☆ 4.5 Review

Genetic control of typical and atypical sex development

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Nitzan Gonen et al.

SCIENCE (2018)

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Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Gerard Ruiz-Babot et al.

CELL REPORTS (2018)

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The cell biology and molecular genetics of Mullerian duct development

Zahida Yesmin Roly et al.

WILEY INTERDISCIPLINARY REVIEWS-DEVELOPMENTAL BIOLOGY (2018)

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Identification of novel candidate genes for 46, XY disorders of sex development (DSD) using a C57BL/6J-Y-POS mouse model

Hayk Barseghyan et al.

BIOLOGY OF SEX DIFFERENCES (2018)

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Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Patrick Sproll et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2018)

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Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

Rajini Sreenivasan et al.

HUMAN MUTATION (2018)

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Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

Brittany Croft et al.

NATURE COMMUNICATIONS (2018)

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Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence

He Huang et al.

CLINICAL ENDOCRINOLOGY (2017)

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NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Dorien Baetens et al.

GENETICS IN MEDICINE (2017)

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Testis Determination Requires a Specific FGFR2 Isoform to Repress FOXL2

Stefan Bagheri-Fam et al.

ENDOCRINOLOGY (2017)

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Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study

A. Berglund et al.

HUMAN REPRODUCTION (2017)

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

Mimi S. Kim et al.

JOURNAL OF UROLOGY (2017)

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Congenital adrenal hyperplasia

Diala El-Maouche et al.

LANCET (2017)

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Elimination of the male reproductive tract in the female embryo is promoted by COUP-TFII in mice

Fei Zhao et al.

SCIENCE (2017)

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Sry and SoxE genes: How they participate in mammalian sex determination and gonadal development?

Zhen-Yu She et al.

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2017)

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A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD

Yassine Naasse et al.

SEXUAL DEVELOPMENT (2017)

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New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria

Silvia Andonova et al.

SEXUAL DEVELOPMENT (2017)

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Gonadectomy in Complete Androgen Insensitivity Syndrome: Why and When?

Ulla Doehnert et al.

SEXUAL DEVELOPMENT (2017)

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Update on the Pathophysiology and Risk Factors for the Development of Malignant Testicular Germ Cell Tumors in Complete Androgen Insensitivity Syndrome

Martine Cools et al.

SEXUAL DEVELOPMENT (2017)

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Rescuing the aberrant sex development of H3K9 demethylase Jmjd1a-deficient mice by modulating H3K9 methylation balance

Shunsuke Kuroki et al.

PLOS GENETICS (2017)

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MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature

Andrea Granados et al.

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

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22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

Nadia Falah et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

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Small copy-number variations involving genes of the FGF pathway in differences in sex development

Andrew Hagan et al.

HUMAN GENOME VARIATION (2017)

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The Role of Hox Genes in Female Reproductive Tract Development, Adult Function, and Fertility

Hongling Du et al.

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE (2016)

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A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo et al.

HUMAN MOLECULAR GENETICS (2016)

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Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development

Agnethe Berglund et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

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Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity

N. C. Hornig et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

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Steroid 5α-reductase 2 deficiency

Berenice B. Mendonca et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2016)

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5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort

Silvano Bertelloni et al.

SEXUAL DEVELOPMENT (2016)

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Involvement of FOXL2 and RSPO1 in Ovarian Determination, Development, and Maintenance in Mammals

Maelle Pannetier et al.

SEXUAL DEVELOPMENT (2016)

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Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

Romina P. Grinspon et al.

SEXUAL DEVELOPMENT (2016)

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Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

Anu Bashamboo et al.

SEXUAL DEVELOPMENT (2016)

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Anogenital distance as a marker of androgen exposure in humans

A. Thankamony et al.

ANDROLOGY (2016)

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Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers et al.

GENOME BIOLOGY (2016)

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Gonadal Maldevelopment as Risk Factor for Germ Cell Cancer: Towards a Clinical Decision Model

Yvonne G. van der Zwan et al.

EUROPEAN UROLOGY (2015)

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FGFR2 mutation in 46, XY sex reversal with craniosynostosis

Stefan Bagheri-Fam et al.

HUMAN MOLECULAR GENETICS (2015)

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Lineage specification of ovarian theca cells requires multicellular interactions via oocyte and granulosa cells

Chang Liu et al.

NATURE COMMUNICATIONS (2015)

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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Annalisa Vetro et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

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Transcriptome Comparisons Identify New Cell Markers for Theca Interna and Granulosa Cells from Small and Large Antral Ovarian Follicles

Nicholas Hatzirodos et al.

PLOS ONE (2015)

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An oral multiparticulate, modified- release, hydrocortisone replacement therapy that provides physiological cortisol exposure

Martin J. Whitaker et al.

CLINICAL ENDOCRINOLOGY (2014)

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Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency

Hui Zhu et al.

CLINICAL ENDOCRINOLOGY (2014)

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DSDs: genetics, underlying pathologies and psychosexual differentiation

Valerie A. Arboleda et al.

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R-spondin1, WNT4, and the CTNNB1 signaling pathway: strict control over ovarian differentiation

Anne-Amandine Chassot et al.

REPRODUCTION (2014)

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The Genetics of Disorders of Sex Development in Humans

Thomas Ohnesorg et al.

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Gender assignment in patients with disorder of sex development

Berenice B. Mendonca

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2014)

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Long-Term Follow-Up of Patients with 46, XY Partial Gonadal Dysgenesis Reared as Males

Juliana Gabriel Ribeiro de Andrade et al.

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY (2014)

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Testicular histological and immunohistochemical aspects in a post-pubertal patient with 5 alpha-reductase type 2 deficiency: case report and review of the literature in a perspective of evaluation of potential fertility of these patients

Lavinia Vija et al.

BMC ENDOCRINE DISORDERS (2014)

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AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity

T. Akcay et al.

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Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden A 26-Year Longitudinal Prospective Population-Based Study

Sebastian Gidlof et al.

JAMA PEDIATRICS (2014)

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The Regulation of Testicular Descent and the Effects of Cryptorchidism

John M. Hutson et al.

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Complete androgen insensitivity syndrome and discordant Mullerian remnants: two cases with novel mutation in the androgen receptor

Ayla Guven et al.

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Disorders of sex development: new genes, new concepts

Makoto Ono et al.

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The dynamics of the primordial follicle reserve

Jeffrey B. Kerr et al.

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Gata4 Is Required for Formation of the Genital Ridge in Mice

Yueh-Chiang Hu et al.

PLOS GENETICS (2013)

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

Sebastian Gidlof et al.

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Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

Javaria Mona Khalid et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2012)

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SRY protein function in sex determination: thinking outside the box

Liang Zhao et al.

CHROMOSOME RESEARCH (2012)

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Gadd45γ and Map3k4 Interactions Regulate Mouse Testis Determination via p38 MAPK-Mediated Control of Sry Expression

Nick Warr et al.

DEVELOPMENTAL CELL (2012)

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A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Stefan White et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

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The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does disorders of sexual development (DSD) classification based on new Chicago consensus cover all sex chromosome DSD?

Gonul Ocal et al.

EUROPEAN JOURNAL OF PEDIATRICS (2012)

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The Androgen Receptor Gene Mutations Database: 2012 Update

Bruce Gottlieb et al.

HUMAN MUTATION (2012)

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Androgen insensitivity syndrome

Ieuan A. Hughes et al.

LANCET (2012)

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DSD Due to 5α-Reductase 2 Deficiency - from Diagnosis to Long Term Outcome

Elaine M. F. Costa et al.

SEMINARS IN REPRODUCTIVE MEDICINE (2012)

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Temporal Transcriptional Profiling of Somatic and Germ Cells Reveals Biased Lineage Priming of Sexual Fate in the Fetal Mouse Gonad

Samantha A. Jameson et al.

PLOS GENETICS (2012)

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Normal male sexual differentiation and aetiology of disorders of sex development

Rodolfo A. Rey et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

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Practical approach to steroid 5alpha-reductase type 2 deficiency

Chong Kun Cheon

EUROPEAN JOURNAL OF PEDIATRICS (2011)

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Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome

Stefan Bagheri-Fam et al.

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SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation

M. Fernandez-Cancio et al.

INTERNATIONAL JOURNAL OF ANDROLOGY (2011)

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Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients

Laurent Maimoun et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

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Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism

M. Cools et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

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Identification of SOX3 as an XX male sex reversal gene in mice and humans

Edwina Sutton et al.

JOURNAL OF CLINICAL INVESTIGATION (2011)

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Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development

Min Nie et al.

MOLECULAR HUMAN REPRODUCTION (2011)

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Testicular descent: INSL3, testosterone, genes and the intrauterine milieu

Katrine Bay et al.

NATURE REVIEWS UROLOGY (2011)

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A SOX9 Duplication and Familial 46,XX Developmental Testicular Disorder.

James J. Cox et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

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What Signals Testis Descent?

Jacques J. Tremblay

BIOLOGY OF REPRODUCTION (2010)

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Scapula development is governed by genetic interactions of Pbx1 with its family members and with Emx2 via their cooperative control of Alx1

Terence D. Capellini et al.

DEVELOPMENT (2010)

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Abnormal Epithelial Cell Polarity and Ectopic Epidermal Growth Factor Receptor (EGFR) Expression Induced in Emx2 KO Embryonic Gonads

Masatomo Kusaka et al.

ENDOCRINOLOGY (2010)

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Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations

Pascal Philibert et al.

FERTILITY AND STERILITY (2010)

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Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5 alpha-Reductase Type 2 Deficiency

Jung Min Ko et al.

HORMONE RESEARCH IN PAEDIATRICS (2010)

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Molecular Analysis of the SRD5A2 in 46,XY Subjects With Incomplete Virilization: The P212R Substitution of the Steroid 5α-Reductase 2 May Constitute an Ancestral Founder Mutation in Mexican Patients

Felipe Vilchis et al.

JOURNAL OF ANDROLOGY (2010)

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Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

L. Audi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

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Mechanisms guiding primordial germ cell migration: strategies from different organisms

Brian E. Richardson et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2010)

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Theca: the forgotten cell of the ovarian follicle

J. M. Young et al.

REPRODUCTION (2010)

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Ovaries and Female Phenotype in a Girl with 46,XY Karyotype and Mutations in the CBX2 Gene

Anna Biason-Lauber et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

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Somatic Sex Reprogramming of Adult Ovaries to Testes by FOXL2 Ablation

N. Henriette Uhlenhaut et al.

CELL (2009)

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Case of sisters with complete androgen insensitivity syndrome and discordant Mullerian remnants

Jennifer L. Nichols et al.

FERTILITY AND STERILITY (2009)

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The primordial pool of follicles and nest breakdown in mammalian ovaries

Candace Tingen et al.

MOLECULAR HUMAN REPRODUCTION (2009)

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Sex determination and SRY: down to a wink and a nudge?

Ryohei Sekido et al.

TRENDS IN GENETICS (2009)

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SERKAL syndrome: An autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

Hannah Mandel et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

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Swyer syndrome: presentation and outcomes

L. Michala et al.

BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2008)

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Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism

Taninee Sahakitrungruang et al.

FERTILITY AND STERILITY (2008)

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Activation of β-catenin signaling by Rspo1 controls differentiation of the mammalian ovary

Anne-Amandine Chassot et al.

HUMAN MOLECULAR GENETICS (2008)

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XX maleness and XX true hermaphroditism in SRY-negative monozygotic twins:: Additional evidence for a common origin

Andrea Trevas Maciel-Guerra et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

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A cellular study of human testis development

H. Ostrer et al.

SEXUAL DEVELOPMENT (2007)

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R-spondin1 is essential in sex determination, skin differentiation and malignancy

Pietro Parma et al.

NATURE GENETICS (2006)

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Extensive clinical experience - Nonclassical 21-hydroxylase deficiency

Maria I. New

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

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Criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: An Androgen Excess Society guideline

Ricardo Azziz et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

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Consensus statement on management of intersex disorders

Peter A. Lee et al.

PEDIATRICS (2006)

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Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers

Martine Cools et al.

ENDOCRINE REVIEWS (2006)

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FOXL2 activates P450 aromatase gene transcription:: towards a better characterization of the early steps of mammalian ovarian development

Maelle Pannetier et al.

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2006)

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SRY and human sex determination: The basic tail of the HMG box functions as a kinetic clamp to augment DNA bending

NB Phillips et al.

JOURNAL OF MOLECULAR BIOLOGY (2006)

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Foxl2 is required for commitment to ovary differentiation

C Ottolenghi et al.

HUMAN MOLECULAR GENETICS (2005)

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46,XX sex reversal with partial duplication of chromosome arm 22q

T Seeherunvong et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

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Novel point mutations in complete androgen insensitivity syndrome with incomplete mullerian regression: two Taiwanese patients

YH Van et al.

EUROPEAN JOURNAL OF PEDIATRICS (2003)

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Pbx1 is essential for adrenal development and urogenital differentiation

CA Schnabel et al.

GENESIS (2003)

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Androgens and male physiology the syndrome of 5α-reductase-2 deficiency

J Imperato-McGinley et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2002)

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How common is intersex? A response to Anne Fausto-Sterling

L Sax

JOURNAL OF SEX RESEARCH (2002)

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The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1

D Wilhelm et al.

GENES & DEVELOPMENT (2002)

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Evidence that Sry is expressed in pre-Sertoli cells and Sertoli and granulosa cells have a common precursor

KH Albrecht et al.

DEVELOPMENTAL BIOLOGY (2001)

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Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation

A Hammes et al.

CELL (2001)

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Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: A meta-analysis

EA Eugster et al.

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The LIM homeobox gene Lhx9 is essential for mouse gonad formation

OS Birk et al.

NATURE (2000)

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SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

NA Hanley et al.

MECHANISMS OF DEVELOPMENT (2000)

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