4.6 Review

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Endocrinology & Metabolism

Neuropsychological Functioning in Patients with Cushing's Disease and Cushing's Syndrome

Sonja Siegel et al.

Summary: The literature suggests that patients with Cushing's disease exhibit neuropsychological impairment in all domains, with memory and visuo-spatial processing being the most consistently affected. Short-term and long-term remission of the disease shows significant improvement in neuropsychological function, but not all domains return to normal. More studies are needed to further understand neuropsychological function in patients with Cushing's disease.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2021)

Article Endocrinology & Metabolism

Real-World Estimates of Adrenal Insufficiency-Related Adverse Events in Children With Congenital Adrenal Hyperplasia

Salma R. Ali et al.

Summary: The study analyzed data from children with classic 21-hydroxylase deficiency CAH from 34 centers in 18 countries, finding that the number of SDE per patient-year was higher in Low or Middle Income Countries. Infectious illness was the most common precipitating event for both SDE and AC.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Article Endocrinology & Metabolism

11-Oxygenated Estrogens Are a Novel Class of Human Estrogens but Do not Contribute to the Circulating Estrogen Pool

Lise Barnard et al.

Summary: Recent research has shown that 11-ketotestosterone, derived from the 11-oxygenated androgen biosynthesis pathway, contributes significantly to the active androgen pool in women. Despite the ability of human aromatase to generate 11-oxygenated estrogens from 11-oxygenated androgens, these estrogens were not detectable in circulation in individuals with high aromatase and 11-oxygenated androgen levels. This suggests that in vivo, 11-oxygenated androgens primarily function as androgens.

ENDOCRINOLOGY (2021)

Review Endocrinology & Metabolism

MANAGEMENT OF ENDOCRINE DISEASE Gonadal dysfunction in congenital adrenal hyperplasia

Hedi L. Claahsen-van der Grinten et al.

Summary: Gonadal dysfunction in congenital adrenal hyperplasia patients can lead to menstrual disturbances, impaired fertility, and hormonal imbalances. Optimal hormonal control is essential to maintain adequate gonadal function.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2021)

Article Endocrinology & Metabolism

Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene

Pavlos Fanis et al.

Summary: This case report describes a male patient with 3 beta-Hydroxysteroid dehydrogenase deficiency caused by mutations in the HSD3B2 gene. The patient exhibited signs of advanced adrenarche, high testosterone levels, and advanced bone age. Genetic testing revealed novel genetic mutations in the patient and identified both parents as carriers of one of the mutations.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2021)

Review Endocrinology & Metabolism

Considering Sex as a Biological Variable in Basic and Clinical Studies: An Endocrine Society Scientific Statement

Aditi Bhargava et al.

Summary: The NIH announced in 2014 that applicants for research funding must consider sex as a biological variable. Despite efforts to include both sexes in research plans, confusion remains among researchers and reviewers about sex differences. Gender and sex are often used interchangeably, and the gender of the researcher may impact the outcomes of studies, particularly in behavioral research.

ENDOCRINE REVIEWS (2021)

Article Endocrinology & Metabolism

Reproductive and Perinatal Outcomes in Women with Congenital Adrenal Hyperplasia: A Population-based Cohort Study

Angelica Linden Hirschberg et al.

Summary: The study found that women with CAH have lower birth rates, higher rates of gestational diabetes and cesarean section, but comparable perinatal outcomes with controls.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Article Endocrinology & Metabolism

Increased Infection Risk in Addison's Disease and Congenital Adrenal Hyperplasia A Primary Care Database Cohort Study

Alberto S. Tresoldi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Review Medicine, Research & Experimental

Sex Hormones and Prostate Cancer

Richard J. Auchus et al.

ANNUAL REVIEW OF MEDICINE, VOL 71, 2020 (2020)

Article Endocrinology & Metabolism

Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency

Riccardo Pofi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Exposure to Glucocorticoids in the First Part of Fetal Life is Associated with Insulin Secretory Defect in Adult Humans

Jean-Pierre Riveline et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

The External Genitalia Score (EGS): A European Multicenter Validation Study

Saskia van der Straaten et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd-LIFE study

Gabriel Riehl et al.

CLINICAL ENDOCRINOLOGY (2020)

Review Endocrinology & Metabolism

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships

Benjamin Dean et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Pharmacokinetic/Pharmacodynamic Evaluation of Hydrocortisone Therapy in Pediatric Patients with Congenital Adrenal Hyperplasia

Johanna Melin et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia

Megan M. Herting et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Biochemistry & Molecular Biology

Effect of androgen excess and glucocorticoid exposure on metabolic risk profiles in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Luisa Paizoni et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2020)

Article Endocrinology & Metabolism

Clinical course of adrenal myelolipoma: A long-term longitudinal follow-up study

Oksana Hamidi et al.

CLINICAL ENDOCRINOLOGY (2020)

Article Endocrinology & Metabolism

Abiraterone acetate treatment lowers 11-oxygenated androgens

Connor Wright et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2020)

Article Endocrinology & Metabolism

Androgen excess and diagnostic steroid biomarkers for nonclassic 21-hydroxylase deficiency without cosyntropin stimulation

Adina F. Turcu et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2020)

Article Medicine, General & Internal

Associations Between Maternal Antenatal Corticosteroid Treatment and Mental and Behavioral Disorders in Children

Katri Raikkonen et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2020)

Article Endocrinology & Metabolism

Current Management and Outcome of Pregnancies in Women With Adrenal Insufficiency: Experience from a Multicenter Survey

Christina Bothou et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Perturbed Beta-Cell Function and Lipid Profile After Early Prenatal Dexamethasone Exposure in Individuals Without CAH

Lena Wallensteen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Prevention of Adrenal Crisis: Cortisol Responses to Major Stress Compared to Stress Dose Hydrocortisone Delivery

Alessandro Prete et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

The Prevalence of the Chimeric TNXA/TNXB Gene and Clinical Symptoms of Ehlers-Danlos Syndrome with 21-Hydroxylase Deficiency

Yinjie Gao et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Obstetrics & Gynecology

Identity, Sexuality, and Parenthood in Women with Congenital Adrenal Hyperplasia

Hedvig Engberg et al.

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY (2020)

Article Endocrinology & Metabolism

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants

Tulay Guran et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2020)

Review Endocrinology & Metabolism

Pathogenesis of glucocorticoid-induced osteoporosis and options for treatment

Pojchong Chotiyarnwong et al.

NATURE REVIEWS ENDOCRINOLOGY (2020)

Review Endocrinology & Metabolism

11-Oxygenated androgens in health and disease

Adina F. Turcu et al.

NATURE REVIEWS ENDOCRINOLOGY (2020)

Review Endocrinology & Metabolism

Bone Mineral Density in Adults With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Swetha Rangaswamaiah et al.

FRONTIERS IN ENDOCRINOLOGY (2020)

Article Endocrinology & Metabolism

A Phase 2, Multicenter Study of Nevanimibe for the Treatment of Congenital Adrenal Hyperplasia

Diala El-Maouche et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

First-Trimester Prenatal Dexamethasone Treatment Is Associated With Alterations in Brain Structure at Adult Age

Annelies van't Westeinde et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Sex Differences in 11-Oxygenated Androgen Patterns Across Adulthood

Angela Davio et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Endocrinology & Metabolism

Application of Principal Component Analysis to Newborn Screening for Congenital Adrenal Hyperplasia

Michael R. Lasarev et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Biochemistry & Molecular Biology

Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency

Matthias K. Auer et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2020)

Letter Multidisciplinary Sciences

Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency

Nicole Reisch et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Letter Multidisciplinary Sciences

Inhibition of placental CYP19A1 activity remains as a valid hypothesis for 46,XX virilization in P450 oxidoreductase deficiency

Christa E. Fluck et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)

Review Endocrinology & Metabolism

Long-term cardio-metabolic outcomes in patients with classical congenital adrenal hyperplasia: is the risk real?

Larissa G. Gomes et al.

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2020)

Review Pediatrics

Individualized care for patients with intersex (disorders/differences of sex development): Part 3

Kanthi Bangalore Krishna et al.

JOURNAL OF PEDIATRIC UROLOGY (2020)

Article Endocrinology & Metabolism

Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited

Tomohiro Ishii et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2020)

Article Biochemistry & Molecular Biology

The A-ring reduction of 11-ketotestosterone is efficiently catalysed by AKR1D1 and SRD5A2 but not SRD5A1

Lise Barnard et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2020)

Review Medicine, General & Internal

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Deborah P. Merke et al.

NEW ENGLAND JOURNAL OF MEDICINE (2020)

Review Behavioral Sciences

Human gender development

Melissa Hines

NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS (2020)

Article Endocrinology & Metabolism

Urinary GC-MS steroid metabotyping in treated children with congenital adrenal hyperplasia

Clemens Kamrath et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2020)

Article Genetics & Heredity

Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

Phyllis W. Speiser et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

Article Public, Environmental & Occupational Health

'You're basically calling doctors torturers': stakeholder framing issues around naming intersex rights claims as human rights abuses

Daniela Crocetti et al.

SOCIOLOGY OF HEALTH & ILLNESS (2020)

Article Peripheral Vascular Disease

Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency

David Rosenbaum et al.

JOURNAL OF HYPERTENSION (2019)

Article Pediatrics

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia

Annelieke A. A. van der Linde et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2019)

Article Endocrinology & Metabolism

Combined Gestational Age- and Birth Weight-Adjusted Cutoffs for Newborn Screening of Congenital Adrenal Hyperplasia

Naomi Pode-Shakked et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Endocrinology & Metabolism

A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing

Li-fei Gong et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2019)

Article Multidisciplinary Sciences

Novel findings from 2,838 Adult Brains on Sex Differences in Gray Matter Brain Volume

Martin Lotze et al.

SCIENTIFIC REPORTS (2019)

Article Biochemistry & Molecular Biology

Alternative (backdoor) androgen production and masculinization in the human fetus

Peter J. O'Shaughnessy et al.

PLOS BIOLOGY (2019)

Article Endocrinology & Metabolism

Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia

Manon Engels et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Endocrinology & Metabolism

Height Velocity Defined Metabolic Control in Children With Congenital Adrenal Hyperplasia Using Urinary Steroid GC-MS Analysis

Clemens Kamrath et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Pediatrics

Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes

Ani Amelia Zainuddin et al.

FRONTIERS IN PEDIATRICS (2019)

Review Endocrinology & Metabolism

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

Karl-Heinz Storbeck et al.

ENDOCRINE REVIEWS (2019)

Review Biochemistry & Molecular Biology

Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review

Lina Schiffer et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2019)

Article Public, Environmental & Occupational Health

EPIDEMIOLOGY OF RARE DISEASES DETECTED BY NEWBORN SCREENING IN THE CZECH REPUBLIC

Jan David et al.

CENTRAL EUROPEAN JOURNAL OF PUBLIC HEALTH (2019)

Review Endocrinology & Metabolism

Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach

Sarantis Livadas et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

Article Endocrinology & Metabolism

Pregnancy in Congenital Adrenal Hyperplasia

Nicole Reisch

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2019)

Editorial Material Endocrinology & Metabolism

Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol

Walter L. Miller

HORMONE RESEARCH IN PAEDIATRICS (2019)

Article Endocrinology & Metabolism

Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency

Irina Bacila et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Biochemistry & Molecular Biology

Advancement in steroid hormone analysis by LC-MS/MS in clinical routine diagnostics - A three year recap from serum cortisol to dried blood 17α-hydroxyprogesterone

Alexander Gaudl et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2019)

Review Medicine, General & Internal

Adrenal Crisis

R. Louise Rushworth et al.

NEW ENGLAND JOURNAL OF MEDICINE (2019)

Article Pediatrics

The impact of culture on disclosure in differences of sex development

Erica M. Weidler et al.

SEMINARS IN PEDIATRIC SURGERY (2019)

Article Pediatrics

Development of a decision support tool in pediatric Differences/Disorders of Sex Development

David E. Sandberg et al.

SEMINARS IN PEDIATRIC SURGERY (2019)

Article Obstetrics & Gynecology

Breast development and satisfaction in women with disorders/differences of sex development

Tim C. van de Grift et al.

HUMAN REPRODUCTION (2019)

Article Endocrinology & Metabolism

Long-term follow-up of children with classic congenital adrenal hyperplasia: suggestions for age dependent treatment in childhood and puberty

Karijn J. Pijnenburg-Kleizen et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2019)

Article Biochemistry & Molecular Biology

Characterizing the steroidal milieu in amniotic fluid of mid-gestation: A GC-MS study

R. Wang et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2019)

Article Multidisciplinary Sciences

Alternative pathway androgen biosynthesis and human fetal female virilization

Nicole Reisch et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2019)

Review Genetics & Heredity

Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

Sandra Brasil et al.

Review Endocrinology & Metabolism

Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

Anna Nordenstrom et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2019)

Review Obstetrics & Gynecology

Classic congenital adrenal hyperplasia and its impact on reproduction

Larissa G. Gomes et al.

FERTILITY AND STERILITY (2019)

Review Obstetrics & Gynecology

Prenatal genetic testing and treatment for congenital adrenal hyperplasia

Joe Leigh Simpson et al.

FERTILITY AND STERILITY (2019)

Article Endocrinology & Metabolism

Persistent Effects of Antenatal Synthetic Glucocorticoids on Endocrine Stress Reactivity From Childhood to Adolescence

Liesa Ilg et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Review Endocrinology & Metabolism

Glucocorticoid Regimens in the Treatment of Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Emma Whittle et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2019)

Article Endocrinology & Metabolism

Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Leif Karlsson et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2019)

Article Psychology, Clinical

Sexuality in Adults with Differences/Disorders of Sex Development (DSD): Findings from the dsd-LIFE Study

Baudewijntje P. C. Kreukels et al.

JOURNAL OF SEX & MARITAL THERAPY (2019)

Article Endocrinology & Metabolism

Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone

Julia E. Barillas et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Quantitative Brain MRI in Congenital Adrenal Hyperplasia: In Vivo Assessment of the Cognitive and Structural Impact of Steroid Hormones

Emma A. Webb et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Review Reproductive Biology

Current knowledge on the acute regulation of steroidogenesis

Vimal Selvaraj et al.

BIOLOGY OF REPRODUCTION (2018)

Article Neurosciences

Sex Differences in the Adult Human Brain: Evidence from 5216 UK Biobank Participants

Stuart J. Ritchie et al.

CEREBRAL CORTEX (2018)

Article Endocrinology & Metabolism

Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia

Sara Jenkins-Jones et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2018)

Article Endocrinology & Metabolism

Gonadal function in adult male patients with congenital adrenal hyperplasia

M. Engels et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2018)

Review Endocrinology & Metabolism

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Walter L. Miller et al.

HORMONE RESEARCH IN PAEDIATRICS (2018)

Review Endocrinology & Metabolism

Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Diana MacKay et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia

Diala El-Maouche et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Biochemistry & Molecular Biology

Androgen excess is due to elevated 11-oxygenated androgens in treated children with congenital adrenal hyperplasia

Clemens Kamrath et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2018)

Article Biochemistry & Molecular Biology

Catalytic modulation of human cytochromes P450 17A1 and P450 11B2 by phospholipid

Hwei-Ming Peng et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2018)

Article Biochemistry & Molecular Biology

11-Oxygenated androgen precursors are the preferred substrates for aldo-keto reductase 1C3 (AKR1C3): Implications for castration resistant prostate cancer

Monique Barnard et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2018)

Article Biochemistry & Molecular Biology

The art of measuring steroids Principles and practice of current hormonal steroid analysis

S. A. Wudy et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2018)

Article Cardiac & Cardiovascular Systems

Complex Association of Sex Hormones on Left Ventricular Systolic Function: Insight into Sexual Dimorphism

Joe-Elie Salem et al.

JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY (2018)

Letter Urology & Nephrology

Re: Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia

M. J. M. Verhees et al.

JOURNAL OF UROLOGY (2018)

Article Endocrinology & Metabolism

Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany

Helmuth G. Doerr et al.

BMC ENDOCRINE DISORDERS (2018)

Review Pediatrics

Feminizing genitoplasties: Where are we now?

Lisieux Eyer Jesus

JOURNAL OF PEDIATRIC UROLOGY (2018)

Article Endocrinology & Metabolism

Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up

Mirjana Kocova et al.

ENDOCRINE CONNECTIONS (2018)

Article Pediatrics

Cognitive function in children with classic congenital adrenal hyperplasia

Sherifa Ahmed Hamed et al.

EUROPEAN JOURNAL OF PEDIATRICS (2018)

Article Endocrinology & Metabolism

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia

Carolina Taddeo Mendes-dos-Santos et al.

HORMONE RESEARCH IN PAEDIATRICS (2018)

Review Endocrinology & Metabolism

Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Shrikant Tamhane et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Review Endocrinology & Metabolism

Genital Reconstructive Surgery in Females With Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Jehad Almasri et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Endocrinology & Metabolism

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline

Phyllis W. Speiser et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2018)

Article Genetics & Heredity

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

Jesse Slone et al.

JOURNAL OF HUMAN GENETICS (2018)

Article Veterinary Sciences

Melanocortin 2 receptor antagonists in canine pituitary-dependent hypercortisolism: in vitro studies

Karin Sanders et al.

VETERINARY RESEARCH COMMUNICATIONS (2018)

Review Psychology, Developmental

Barriers to Transition From Pediatric to Adult Care: A Systematic Review

Wendy N. Gray et al.

JOURNAL OF PEDIATRIC PSYCHOLOGY (2018)

Article Endocrinology & Metabolism

Phenotypic Variation of 46,XX Late Identified Congenital Adrenal Hyperplasia among Indonesians

Achmad Zulfa Juniarto et al.

JOURNAL OF THE ASEAN FEDERATION OF ENDOCRINE SOCIETIES (2018)

Article Psychology, Clinical

Stigma Associated with Classical Congenital Adrenal Hyperplasia in Women's Sexual Lives

Heino F. L. Meyer-Bahlburg et al.

ARCHIVES OF SEXUAL BEHAVIOR (2018)

Article Psychology, Developmental

Beyond Pink and Blue: The Complexity of Early Androgen Effects on Gender Development

Sheri A. Berenbaum

CHILD DEVELOPMENT PERSPECTIVES (2018)

Article Endocrinology & Metabolism

Extensive Bilateral Adrenal Rest Testicular Tumors in a Patient With 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

Evangelos Lolis et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2018)

Article Obstetrics & Gynecology

Two cases of reversible male infertility due to congenital adrenal hyperplasia combined with testicular adrenal rest tumor

Mikito Tanaka et al.

REPRODUCTIVE MEDICINE AND BIOLOGY (2018)

Article Endocrinology & Metabolism

Quality of compounded hydrocortisone capsules used in the treatment of children

Uta Neumann et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2017)

Article Endocrinology & Metabolism

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'

A. Kulle et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2017)

Article Endocrinology & Metabolism

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults

Ja Hye Kim et al.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2017)

Article Genetics & Heredity

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians

Fady Hannah-Shmouni et al.

GENETICS IN MEDICINE (2017)

Article Biochemistry & Molecular Biology

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

Yanyan Peng et al.

HUMAN MOLECULAR GENETICS (2017)

Article Biochemistry & Molecular Biology

Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia

Chunxue Wang et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2017)

Review Psychology, Developmental

Research Review: Childhood chronic physical illness and adult emotional health - a systematic review and meta-analysis

Ekin Secinti et al.

JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2017)

Article Endocrinology & Metabolism

11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency

Adina F. Turcu et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2017)

Article Family Studies

How the Child's Gender Matters for Families Having a Child With Congenital Adrenal Hyperplasia

Louise Fleming et al.

JOURNAL OF FAMILY NURSING (2017)

Article Biochemistry & Molecular Biology

The urinary steroidome of treated children with classic 21-hydroxylase deficiency

Clemens Kamrath et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2017)

Review Biochemistry & Molecular Biology

Disorders in the initial steps of steroid hormone synthesis

Walter L. Miller

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2017)

Article Urology & Nephrology

Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia

Mimi S. Kim et al.

JOURNAL OF UROLOGY (2017)

Article Reproductive Biology

The relationship between maternal corticosteroid use and orofacial clefts-a meta-analysis

Wen-lin Xiao et al.

REPRODUCTIVE TOXICOLOGY (2017)

Review Endocrinology & Metabolism

Steroidogenesis: Unanswered Questions

Walter L. Miller

TRENDS IN ENDOCRINOLOGY AND METABOLISM (2017)

Article Multidisciplinary Sciences

MiR-30a targets IL-1α and regulates islet functions as an inflammation buffer and response factor

Xin Jiang et al.

SCIENTIFIC REPORTS (2017)

Article Endocrinology & Metabolism

Cognitive impairment in adolescents and adults with congenital adrenal hyperplasia

Leif Karlsson et al.

CLINICAL ENDOCRINOLOGY (2017)

Article Radiology, Nuclear Medicine & Medical Imaging

Sonography and Magnetic Resonance Imaging Characteristics of Testicular Adrenal Rest Tumors

Ravza Yilmaz et al.

POLISH JOURNAL OF RADIOLOGY (2017)

Article Endocrinology & Metabolism

Pregnancy in women with nonclassic congenital adrenal hyperplasia: Time to conceive and outcome

Ori Eyal et al.

CLINICAL ENDOCRINOLOGY (2017)

Article Multidisciplinary Sciences

Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype

Semyon Gurgov et al.

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES (2017)

Article Genetics & Heredity

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Antoine Paul et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Disorders of sex development (DSD): Clinical service delivery in the United States

Aimee M. Rolston et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2017)

Article Genetics & Heredity

Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSDTranslational research network

David E. Sandberg et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2017)

Review Endocrinology & Metabolism

Cell Therapy for Type 1 Diabetes: Current and Future Strategies

Yasaman Aghazadeh et al.

CURRENT DIABETES REPORTS (2017)

Article Endocrinology & Metabolism

Risk factors for hospitalization of children with congenital adrenal hyperplasia

Ming Yang et al.

CLINICAL ENDOCRINOLOGY (2017)

Article Medical Laboratory Technology

Harmonisation of serum dihydrotestosterone analysis: establishment of an external quality assurance program

Ronda F. Greaves et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2017)

Article Endocrinology & Metabolism

Deferring surgical treatment of ambiguous genitalia into adolescence in girls with 21-hydroxylase deficiency: a feasibility study

Pierre Bougneres et al.

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY (2017)

Review Endocrinology & Metabolism

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Krupali Bulsari et al.

ENDOCRINE (2017)

Review Obstetrics & Gynecology

Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone

Sarah Heland et al.

AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY (2016)

Article Public, Environmental & Occupational Health

The status of neonatal screening in China, 2013

Kun Zhong et al.

JOURNAL OF MEDICAL SCREENING (2016)

Letter Endocrinology & Metabolism

A delayed diagnosis of salt-wasting congenital adrenal hyperplasia

K. J. Pijnenburg-Kleizen et al.

CLINICAL ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

Adina F. Turcu et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2016)

Article Endocrinology & Metabolism

A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia

Aikaterini A. Nella et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency

Adina F. Turcu et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Steroid Metabolomic Disease Signature of Nonsyndromic Childhood Obesity

Aneta Gawlik et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Sex-Dimorphic Effects of Prenatal Treatment With Dexamethasone

Lena Wallensteen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

Stefan R. Bornstein et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Review Endocrinology & Metabolism

Current and future perspective of newborn screening: an Indian scenario

Gurjit Kaur et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2016)

Article Biochemistry & Molecular Biology

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene

Huy-Hoang Nguyen et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2016)

Article Biochemistry & Molecular Biology

Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants

Clemens Kamrath et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2016)

Article Genetics & Heredity

Current models of care for disorders of sex development - results from an International survey of specialist centres

Andreas Kyriakou et al.

ORPHANET JOURNAL OF RARE DISEASES (2016)

Review Endocrinology & Metabolism

Novel treatment strategies in congenital adrenal hyperplasia

Adina F. Turcu et al.

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2016)

Article Endocrinology & Metabolism

Hospital Admission Patterns in Children with CAH: Admission Rates and Adrenal Crises Decline with Age

R. Louise Rushworth et al.

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2016)

Article Biochemical Research Methods

Determination of a steroid profile in heel prick blood using LC-MS/MS

Anita Boelen et al.

BIOANALYSIS (2016)

Article Endocrinology & Metabolism

Fetal endocrine therapy for congenital adrenal hyperplasia should not be done

Walter L. Miller

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Medical Laboratory Technology

Salivary morning androstenedione and 17α-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia

Monique J. M. de Groot et al.

CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2015)

Article Endocrinology & Metabolism

Ethical Issues in Decision-Making for Infants with Disorders of Sex Development

A. A. Kon

HORMONE AND METABOLIC RESEARCH (2015)

Article Endocrinology & Metabolism

Building Trust: The History and Ongoing Relationships Amongst DSD Clinicians, Researchers, and Patient Advocacy Groups

A. C. Lossie et al.

HORMONE AND METABOLIC RESEARCH (2015)

Article Endocrinology & Metabolism

A Phase 2 Study of Chronocort, a Modified-Release Formulation of Hydrocortisone, in the Treatment of Adults With Classic Congenital Adrenal Hyperplasia

Ashwini Mallappa et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

High Incidence of Adrenal Crisis in Educated Patients With Chronic Adrenal Insufficiency: A Prospective Study

Stefanie Hahner et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Cardiovascular Abnormalities and Impaired Exercise Performance in Adolescents With Congenital Adrenal Hyperplasia

Alberto M. Marra et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency

Adina F. Turcu et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Newborn Screening for Congenital Adrenal Hyperplasia in New Zealand, 1994-2013

Natasha L. Heather et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

Henrik Falhammar et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Endocrinology & Metabolism

Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia

Rachel Morissette et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)

Article Biochemistry & Molecular Biology

Simultaneous quantification of cholesterol sulfate, androgen sulfates, and progestagen sulfates in human serum by LC-MS/MS

Alberto Sanchez-Guijo et al.

JOURNAL OF LIPID RESEARCH (2015)

Article Endocrinology & Metabolism

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

Isabelle Wieacker et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2015)

Article Psychiatry

Emotional and behavioral problems in late-identified Indonesian patients with disorders of sex development

Annastasia Ediati et al.

JOURNAL OF PSYCHOSOMATIC RESEARCH (2015)

Article Cell Biology

Management considerations for the adult with congenital adrenal hyperplasia

Richard J. Auchus

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

Patrice K. Held et al.

MOLECULAR GENETICS AND METABOLISM (2015)

Review Obstetrics & Gynecology

Current status of newborn screening worldwide: 2015

Bradford L. Therrell et al.

SEMINARS IN PERINATOLOGY (2015)

Article Endocrinology & Metabolism

Parental Reports of Stigma Associated with Child's Disorder of Sex Development

Aimee M. Rolston et al.

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2015)

Review Endocrinology & Metabolism

New directions for the treatment of adrenal insufficiency

Gerard Ruiz-Babot et al.

FRONTIERS IN ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations

Peter C. Hindmarsh et al.

CLINICAL ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Diala El-Maouche et al.

CLINICAL ENDOCRINOLOGY (2015)

Review Pediatrics

Developmental changes in renal tubular transport-an overview

Jyothsna Gattineni et al.

PEDIATRIC NEPHROLOGY (2015)

Review Endocrinology & Metabolism

Biochemical and genetic diagnosis of 21-hydroxylase deficiency

Henrik Falhammar et al.

ENDOCRINE (2015)

Article Genetics & Heredity

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

Mariela Larrandaburu et al.

JOURNAL OF COMMUNITY GENETICS (2015)

Article Psychology, Clinical

Gender Development in Indonesian Children, Adolescents, and Adults with Disorders of Sex Development

Annastasia Ediati et al.

ARCHIVES OF SEXUAL BEHAVIOR (2015)

Article Endocrinology & Metabolism

Congenital adrenal hyperplasia patient perception of 'disorders of sex development' nomenclature

Karen Lin-Su et al.

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY (2015)

Review Endocrinology & Metabolism

EXTENSIVE EXPERTISE IN ENDOCRINOLOGY Adrenal crisis

Bruno Allolio

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

Marilza Leal Nascimento et al.

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA (2014)

Article Obstetrics & Gynecology

Fertility in patients with congenital adrenal hyperplasia

David E. Reichman et al.

FERTILITY AND STERILITY (2014)

Article Pediatrics

A three-year follow-up of congenital adrenal hyperplasia newborn screening

Isabela L. Pezzuti et al.

JORNAL DE PEDIATRIA (2014)

Article Endocrinology & Metabolism

Increased Psychiatric Morbidity in Men With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Henrik Falhammar et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Suboptimal Psychosocial Outcomes in Patients With Congenital Adrenal Hyperplasia: Epidemiological Studies in a Nonbiased National Cohort in Sweden

A. Strandqvist et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Increased Mortality in Patients With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Henrik Falhammar et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

Maria I. New et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Adrenal steroidogenesis following prenatal dexamethasone exposure in the spiny mouse

Tracey A. Quinn et al.

JOURNAL OF ENDOCRINOLOGY (2014)

Review Medicine, General & Internal

Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency

E. S. Husebye et al.

JOURNAL OF INTERNAL MEDICINE (2014)

Article Endocrinology & Metabolism

Psychological impact on parents of children with congenital adrenal hyperplasia: a study from Sri Lanka

K. S. H. de Silva et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2014)

Letter Medicine, General & Internal

Mitotane for 21-Hydroxylase Deficiency in an Infertile Man

Helene Bry-Gauillard et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Pediatrics

Transition Care for Children With Special Health Care Needs

Alaina M. Davis et al.

PEDIATRICS (2014)

Article Multidisciplinary Sciences

Sex differences in the structural connectome of the human brain

Madhura Ingalhalikar et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)

Article Biochemistry & Molecular Biology

Morpho-functional characteristics of rat fetal thyroid gland are affected by prenatal dexamethasone exposure

Milica N. Manojlovic-Stojanoski et al.

STEROIDS (2014)

Article Health Care Sciences & Services

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011

H. Al Hosani et al.

EASTERN MEDITERRANEAN HEALTH JOURNAL (2014)

Article Pediatrics

Adult height of subjects with nonclassical 21-hydroxylase deficiency

Ori Eyal et al.

ACTA PAEDIATRICA (2013)

Review Psychology, Developmental

Self-esteem of children and adolescents with chronic illness: a meta-analysis

M. Pinquart

CHILD CARE HEALTH AND DEVELOPMENT (2013)

Article Medical Laboratory Technology

Newborn screening for congenital adrenal hyperplasia in Cuba: Six years of experience

Ernesto Carlos Gonzalez et al.

CLINICA CHIMICA ACTA (2013)

Article Endocrinology & Metabolism

Glucocorticoid treatment regimen and health outcomes in adults with congenital adrenal hyperplasia

T. S. Han et al.

CLINICAL ENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

Glucocorticoid Programming of the Fetal Male Hippocampal Epigenome

Ariann Crudo et al.

ENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

A glucocorticoid education group meeting: an effective strategy for improving self-management to prevent adrenal crisis

Han J. W. J. Repping-Wuts et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia

Henrik Falhammar et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2013)

Article Endocrinology & Metabolism

Liquid Chromatography-Tandem Mass Spectrometry Analysis of Human Adrenal Vein 19-Carbon Steroids Before and After ACTH Stimulation

Juilee Rege et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Endocrinology & Metabolism

Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia

Deborah P. Merke et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Endocrinology & Metabolism

Cortisol Response to Operative Stress With Anesthesia in Healthy Children

Lisa K. Taylor et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Review Obstetrics & Gynecology

Research on Quality of Life in Female Patients with Congenital Adrenal Hyperplasia and Issues in Developing Nations

Ani Amelia Zainuddin et al.

JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY (2013)

Article Pediatrics

Congenital Adrenal Hyperplasia and the Second Newborn Screen

Christine L. Chan et al.

JOURNAL OF PEDIATRICS (2013)

Article Biochemistry & Molecular Biology

Dexamethasone inhibits the maturation of newly formed neurons and glia supplemented with polyunsaturated fatty acids

Christine Heberden et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2013)

Article Multidisciplinary Sciences

Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia

Shozeb Haider et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Multidisciplinary Sciences

Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Maria I. New et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)

Article Biochemistry & Molecular Biology

Non-classic congenital adrenal hyperplasia

Selma Feldman Witchel

STEROIDS (2013)

Article Pediatrics

Current practice in feminizing surgery for congenital adrenal hyperplasia; A specialist survey

Francisca Yankovic et al.

JOURNAL OF PEDIATRIC UROLOGY (2013)

Article Endocrinology & Metabolism

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study

Sebastian Gidlof et al.

LANCET DIABETES & ENDOCRINOLOGY (2013)

Review Psychology, Developmental

Parenting Stress Among Caregivers of Children With Chronic Illness: A Systematic Review

Melissa K. Cousino et al.

JOURNAL OF PEDIATRIC PSYCHOLOGY (2013)

Article Public, Environmental & Occupational Health

Peer Victimization Among School-aged Children With Chronic Conditions

Mariane Sentenac et al.

EPIDEMIOLOGIC REVIEWS (2012)

Article Endocrinology & Metabolism

Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Heino F. L. Meyer-Bahlburg et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency

Ingrid Nermoen et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

Henrik Falhammar et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Endocrinology & Metabolism

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

Nicole Reisch et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2012)

Article Biochemistry & Molecular Biology

Mutation Analysis of the CYP21A2 Gene in the Iranian Population

Bahareh Rabbani et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2012)

Article Endocrinology & Metabolism

Absence of Clinically Relevant Growth Acceleration in Untreated Children with Non-Classical Congenital Adrenal Hyperplasia

Karijn J. Pijnenburg-Kleizen et al.

HORMONE RESEARCH IN PAEDIATRICS (2012)

Letter Medicine, General & Internal

Cases of Congenital Adrenal Hyperplasia Missed by Newborn Screening in Minnesota

Kyriakie Sarafoglou et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2012)

Article Ethics

Prenatal Dexamethasone for Congenital Adrenal Hyperplasia

Alice Dreger et al.

JOURNAL OF BIOETHICAL INQUIRY (2012)

Article Endocrinology & Metabolism

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Nils Krone et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia

Gabriela P. Finkielstain et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Review Endocrinology & Metabolism

The Syndrome of 17,20 Lyase Deficiency

Walter L. Miller

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Editorial Material Endocrinology & Metabolism

Prenatal Dexamethasone Treatment of Children at Risk for Congenital Adrenal Hyperplasia: The Swedish Experience and Standpoint

Tatja Hirvikoski et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Bone Mineral Density Is Not Significantly Reduced in Adult Patients on Low-Dose Glucocorticoid Replacement Therapy

K. R. Koetz et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

Jan Idkowiak et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Increased Activation of the Alternative Backdoor Pathway in Patients with 21-Hydroxylase Deficiency: Evidence from Urinary Steroid Hormone Analysis

Clemens Kamrath et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Editorial Material Genetics & Heredity

Prenatal Treatment of Congenital Adrenal Hyperplasia-Not Standard of Care

Selma Feldman Witchel et al.

JOURNAL OF GENETIC COUNSELING (2012)

Article Pediatrics

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

Vinutha B. Shetty et al.

JOURNAL OF PAEDIATRICS AND CHILD HEALTH (2012)

Article Endocrinology & Metabolism

Apparent mineralocorticoid excess syndrome: report of one family with three affected children

Taiba Al-Harbi et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2012)

Article Public, Environmental & Occupational Health

Applying the Female Sexual Functioning Index to Sexual Minority Women

Ulrike Boehmer et al.

JOURNAL OF WOMENS HEALTH (2012)

Article Obstetrics & Gynecology

An Update on Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

Maria I. New et al.

SEMINARS IN REPRODUCTIVE MEDICINE (2012)

Article Nursing

Informing parents about positive newborn screen results: Parents' recommendations

Natalie Salm et al.

JOURNAL OF CHILD HEALTH CARE (2012)

Article Health Care Sciences & Services

Paternal Involvement in Pediatric Type 1 Diabetes: Fathers' and Mothers' Psychological Functioning and Disease Management

Jennifer A. Hansen et al.

FAMILIES SYSTEMS & HEALTH (2012)

Article Pediatrics

Determinant factors of gender identity: A commentary

Lih-Mei Liao et al.

JOURNAL OF PEDIATRIC UROLOGY (2012)

Review Public, Environmental & Occupational Health

Hormones, context, and Brain Gender: A review of evidence from congenital adrenal hyperplasia

Rebecca M. Jordan-Young

SOCIAL SCIENCE & MEDICINE (2012)

Article Industrial Relations & Labor

Career Barriers Experienced by People with Chronic Illness: A U.S. Study

Joy E. Beatty

EMPLOYEE RESPONSIBILITIES AND RIGHTS JOURNAL (2012)

Review Endocrinology & Metabolism

Clinical outcomes in the management of congenital adrenal hyperplasia

Henrik Falhammar et al.

ENDOCRINE (2012)

Article Psychology, Developmental

Families With Children With Diabetes: Implications of Parent Stress for Parent and Child Health

Vicki S. Helgeson et al.

JOURNAL OF PEDIATRIC PSYCHOLOGY (2012)

Article Genetics & Heredity

Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation

Christa E. Flueck et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2011)

Article Pediatrics

The 1990s A Decade of Change in Understanding Children With Ongoing Conditions

Ruth E. K. Stein

ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2011)

Article Biochemistry & Molecular Biology

Why Human Cytochrome P450c21 Is a Progesterone 21-Hydroxylase

Dario Mizrachi et al.

BIOCHEMISTRY (2011)

Review Endocrinology & Metabolism

The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders

Walter L. Miller et al.

ENDOCRINE REVIEWS (2011)

Article Endocrinology & Metabolism

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

Radha Nandagopal et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2011)

Article Endocrinology & Metabolism

Adrenarche and Puberty in Children with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Thomas M. K. Voelkl et al.

HORMONE RESEARCH IN PAEDIATRICS (2011)

Review Medicine, General & Internal

Noninvasive Fetal Sex Determination Using Cell-Free Fetal DNA A Systematic Review and Meta-analysis

Stephanie A. Devaney et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)

Article Endocrinology & Metabolism

Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Gabriela P. Finkielstain et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Article Endocrinology & Metabolism

Partial Defect in the Cholesterol Side-Chain Cleavage Enzyme P450scc (CYP11A1) Resembling Nonclassic Congenital Lipoid Adrenal Hyperplasia

Taninee Sahakitrungruang et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Article Endocrinology & Metabolism

Final Adult Height in Children with Congenital Adrenal Hyperplasia Treated with Growth Hormone

Karen Lin-Su et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Review Biotechnology & Applied Microbiology

Direct lineage conversions: unnatural but useful?

Thomas Vierbuchen et al.

NATURE BIOTECHNOLOGY (2011)

Review Pharmacology & Pharmacy

Congenital adrenal hyperplasia - Pharmacologic interventions from the prenatal phase to adulthood

H. L. Claahsen-van der Grinten et al.

PHARMACOLOGY & THERAPEUTICS (2011)

Article Endocrinology & Metabolism

Children with disorders of sex development: A qualitative study of early parental experience

Halley P. Crissman et al.

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY (2011)

Review Psychology, Developmental

Behavior Problems in Children and Adolescents With Chronic Physical Illness: A Meta-Analysis

Martin Pinquart et al.

JOURNAL OF PEDIATRIC PSYCHOLOGY (2011)

Article Medical Laboratory Technology

Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening

Victor R. De Jesus et al.

CLINICA CHIMICA ACTA (2010)

Article Endocrinology & Metabolism

Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Dorota Tomalik-Scharte et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2010)

Article Endocrinology & Metabolism

Psychiatric characterization of children with genetic causes of hyperandrogenism

Sven C. Mueller et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2010)

Review Endocrinology & Metabolism

Adult Height in Patients with Congenital Adrenal Hyperplasia: A Systematic Review and Metaanalysis

Kalpana Muthusamy et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of 203 Patients

Wiebke Arlt et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

Fertility in Women with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Maud Bidet et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

Approach to Assigning Gender in 46,XX Congenital Adrenal Hyperplasia with Male External Genitalia: Replacing Dogmatism with Pragmatism

Christopher P. Houk et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline

Phyllis W. Speiser et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Review Endocrinology & Metabolism

Minireview: Steroidogenic Factor 1: Its Roles in Differentiation, Development, and Disease

Bernard P. Schimmer et al.

MOLECULAR ENDOCRINOLOGY (2010)

Article Endocrinology & Metabolism

A steroid metabolomic approach to 17α-hydroxylase/17,20 lyase deficiency

D. Tiosano et al.

METABOLOMICS (2010)

Review Genetics & Heredity

Preimplantation genetic diagnosis at 20 years

Joe Leigh Simpson

PRENATAL DIAGNOSIS (2010)

Article Psychology, Developmental

Risk Factors Associated with Depressive Symptoms in Caregivers of Children with Type 1 Diabetes or Cystic Fibrosis

Kimberly A. Driscoll et al.

JOURNAL OF PEDIATRIC PSYCHOLOGY (2010)

Article Physiology

Hypocretin/orexin increases the expression of steroidogenic enzymes in human adrenocortical NCI H295R cells

Jan Wenzel et al.

AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY (2009)

Article Endocrinology & Metabolism

Therapeutic management of adrenal insufficiency

Stefanie Hahner et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Fine Tuning for Quality of Life: 21st Century Approach to Treatment of Addison's Disease

Nicole Reisch et al.

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2009)

Article Endocrinology & Metabolism

Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency

Larissa G. Gomes et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Clinical, Genetic, and Enzymatic Characterization of P450 Oxidoreductase Deficiency in Four Patients

Taninee Sahakitrungruang et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect

S. Kleinle et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Modified-Release Hydrocortisone to Provide Circadian Cortisol Profiles

Miguel Debono et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

A Novel Homozygous Mutation in CYP11A1 Gene Is Associated with Late-Onset Adrenal Insufficiency and Hypospadias in a 46, XY Patient

Petr Rubtsov et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Type 5 17β-Hydroxysteroid Dehydrogenase (AKR1C3) Contributes to Testosterone Production in the Adrenal Reticularis

Yasuhiro Nakamura et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

Gender Role Behavior, Sexuality, and Psychosocial Adaptation in Women with Congenital Adrenal Hyperplasia due to CYP21A2 Deficiency

Louise Frisen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Article Endocrinology & Metabolism

High Prevalence of Reduced Fecundity in Men with Congenital Adrenal Hyperplasia

Nicole Reisch et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)

Review Endocrinology & Metabolism

Neonatal screening for congenital adrenal hyperplasia

Perrin C. White

NATURE REVIEWS ENDOCRINOLOGY (2009)

Article Pediatrics

Physiological Partial Aldosterone Resistance in Human Newborns

Laetitia Martinerie et al.

PEDIATRIC RESEARCH (2009)

Article Endocrinology & Metabolism

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children

Firdevs Baş et al.

Journal of Clinical Research in Pediatric Endocrinology (2009)

Review Behavioral Sciences

Impact of stressors in a natural context on release of cortisol in healthy adult humans: A meta-analysis

Kathy Michaud et al.

STRESS-THE INTERNATIONAL JOURNAL ON THE BIOLOGY OF STRESS (2009)

Article Obstetrics & Gynecology

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage

Hedi L. Claahsen-van der Grinten et al.

FERTILITY AND STERILITY (2008)

Article Health Care Sciences & Services

Quality of life among adolescents with sickle cell disease: mediation of pain by internalizing symptoms and parenting stress

Lamia P. Barakat et al.

HEALTH AND QUALITY OF LIFE OUTCOMES (2008)

Article Endocrinology & Metabolism

Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency

Eli Hershkovitz et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Endocrinology & Metabolism

The common p450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency

Larissa G. Gomes et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Endocrinology & Metabolism

Control of Childhood Congenital Adrenal Hyperplasia and Sleep Activity and Quality with Morning or Evening Glucocorticoid Therapy

Alina German et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Endocrinology & Metabolism

Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia

Agneta Nordenskjoeld et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Endocrinology & Metabolism

Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency

Hsien-Hsiung Lee et al.

MOLECULAR GENETICS AND METABOLISM (2008)

Article Multidisciplinary Sciences

Genetics of P450 oxidoreductase: Sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations

Ningwu Huang et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Endocrinology & Metabolism

Disorders of sex development (DSDs), their presentation and management in different cultures

Garry L. Warne et al.

REVIEWS IN ENDOCRINE & METABOLIC DISORDERS (2008)

Review Behavioral Sciences

Impact of stressors in a natural context on release of cortisol in healthy adult humans: A meta-analysis

Kathy Michaud et al.

STRESS-THE INTERNATIONAL JOURNAL ON THE BIOLOGY OF STRESS (2008)

Article Endocrinology & Metabolism

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency

Henrik Falhammar et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Endocrinology & Metabolism

Sexual dimorphism in cortisol secretion starts after age 10 in healthy children: urinary cortisol metabolite excretion rates during growth

Stefan A. Wudy et al.

AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM (2007)

Article Endocrinology & Metabolism

Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency

Rogerio S. Araujo et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Medicine, General & Internal

Long-term outcomes after repeat doses of antenatal corticosteroids

Ronald J. Wapner et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Endocrinology & Metabolism

Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Hedi L. Claahsen-van der Grinten et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2007)

Article Endocrinology & Metabolism

Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: Deceleration of growth velocity during puberty

Walter Bonfig et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Endocrinology & Metabolism

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Robert C. Wilson et al.

MOLECULAR GENETICS AND METABOLISM (2007)

Article Endocrinology & Metabolism

Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone

Tatja Hirvikoski et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Physiology

Maternal dexamethasone treatment at midgestation reduces nephron number and alters renal gene expression in the fetal spiny mouse

Hayley Dickinson et al.

AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY (2007)

Article Endocrinology & Metabolism

Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia

Saroj Nimkarn et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Endocrinology & Metabolism

Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Henrik Falhammar et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Education, Special

An examination of parenting variables and child self-care behavior across disease groups

Teri L. Bourdeau et al.

JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES (2007)

Article Psychology, Clinical

Gender development in women with congenital adrenal hyperplasia as a function of disorder severity

Heino F. L. Meyer-Bahlburg et al.

ARCHIVES OF SEXUAL BEHAVIOR (2006)

Article Endocrinology & Metabolism

Reduced bone mineral density and increased bone metabolism rate in young adult patients with 21-hydroxylase deficiency

Mariateresa Sciannamblo et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Endocrinology & Metabolism

Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia

C. Moran et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Pediatrics

Consensus statement on management of intersex disorders

Peter A. Lee et al.

PEDIATRICS (2006)

Article Endocrinology & Metabolism

Impaired cognitive function in women with congenital adrenal hyperplasia

TH Johannsen et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Medicine, Research & Experimental

In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development

M Goto et al.

JOURNAL OF CLINICAL INVESTIGATION (2006)

Article Endocrinology & Metabolism

Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia

HL Claahsen-van der Grinten et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Endocrinology & Metabolism

Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia

JA King et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Clinical Neurology

Size and burden of mental disorders in Europe - a critical review and appraisal of 27 studies

HU Wittchen et al.

EUROPEAN NEUROPSYCHOPHARMACOLOGY (2005)

Article Psychology, Clinical

Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia

AB Dessens et al.

ARCHIVES OF SEXUAL BEHAVIOR (2005)

Review Medicine, General & Internal

Congenital adrenal hyperplasia

DP Merke et al.

LANCET (2005)

Review Endocrinology & Metabolism

Molecular biology of the 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase gene family

J Simard et al.

ENDOCRINE REVIEWS (2005)

Review Endocrinology & Metabolism

Minireview: Regulation of steroidogenesis by electron transfer

WL Miller

ENDOCRINOLOGY (2005)

Article Endocrinology & Metabolism

Corticotropin-releasing hormone directly stimulates cortisol and the cortisol Biosynthetic pathway in human fetal adrenal cells

R Sirianni et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)

Article Obstetrics & Gynecology

Effects into adulthood of single or repeated antenatal corticosteroids in sheep

TJM Moss et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2005)

Article Urology & Nephrology

The virilized female: endocrine background

MG Forest et al.

BJU INTERNATIONAL (2004)

Article Endocrinology & Metabolism

The orphan nuclear receptors NURR1 and NGFIB regulate adrenal aldosterone production

MH Bassett et al.

MOLECULAR ENDOCRINOLOGY (2004)

Article Endocrinology & Metabolism

Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone

HFL Meyer-Bahlburg et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)

Article Endocrinology & Metabolism

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia

CZ Minutti et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)

Article Endocrinology & Metabolism

Neonatal screening for congenital adrenal hyperplasia

HJ van der Kamp et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2004)

Article Endocrinology & Metabolism

Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia

CM Hall et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)

Article Endocrinology & Metabolism

Prenatal treatment of congenital adrenal hyperplasia

S Lajic et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2004)

Review Endocrinology & Metabolism

The backdoor pathway to dihydrotestosterone

RJ Auchus

TRENDS IN ENDOCRINOLOGY AND METABOLISM (2004)

Article Cell Biology

Congenital adrenal hyperplasia: transitional care

IA Hughes

GROWTH HORMONE & IGF RESEARCH (2004)

Article Endocrinology & Metabolism

CYP21 genotype, adult height, and pubertal development in 55 patients treated for 21-hydroxylase deficiency

A Balsamo et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)

Article Endocrinology & Metabolism

The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the Δ5 steroidogenic pathway

CE Flück et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)

Article Endocrinology & Metabolism

What is the agenda of the intersex patient advocacy movement?

C Chase

ENDOCRINOLOGIST (2003)

Article Endocrinology & Metabolism

Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia

NMML Stikkelbroeck et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)

Article Endocrinology & Metabolism

Agonistic and antagonistic properties of progesterone metabolites at the human mineralocorticoid receptor

M Quinkler et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2002)

Review Endocrinology & Metabolism

The epidemiology of corticosteroid-induced osteoporosis: A meta-analysis

TP van Staa et al.

OSTEOPOROSIS INTERNATIONAL (2002)

Article Pediatrics

Newborn screening for congenital adrenal hyperplasia in the Netherlands

HJ Van der Kamp et al.

PEDIATRICS (2001)

Article Pediatrics

Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia

JL King et al.

ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2001)

Article Endocrinology & Metabolism

Effect of adrenal androgen and estrogen on bone maturation and bone mineral density

O Arisaka et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2001)

Review Endocrinology & Metabolism

Pregnancy outcomes in women with congenital virilizing adrenal hyperplasia

JC Lo et al.

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2001)

Article Endocrinology & Metabolism

The genetics, pathophysiology, and management of human deficiencies of P450c17

RJ Auchus

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA (2001)

Article Obstetrics & Gynecology

21-Hydroxylase-deficient nonclassic adrenal hyperplasia is a progressive disorder:: A multicenter study

C Moran et al.

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2000)

Article Medicine, General & Internal

Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency.

DP Merke et al.

NEW ENGLAND JOURNAL OF MEDICINE (2000)

Article Endocrinology & Metabolism

Use of oral corticosteroids and risk of fractures

TP Van Staa et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2000)