4.5 Review

Genetic variants of gonadotrophins and their receptors: Impact on the diagnosis and management of the infertile patient

Related references

Note: Only part of the references are listed.
Article Endocrinology & Metabolism

Rescue of Function of Mutant Luteinising Hormone Receptors with Deficiencies in Cell Surface Expression, Hormone Binding, and Hormone Signalling

Claire Louise Newton et al.

Summary: The study demonstrated that the pharmacological chaperone LHR-Chap can rescue a variety of dysfunctional mutants, including intracellularly retained LHR mutants. Additionally, it can restore function in mutant receptors with deficiencies in hormone binding or hormone-induced signaling.

NEUROENDOCRINOLOGY (2021)

Article Endocrinology & Metabolism

FSHB Transcription is Regulated by a Novel 5′ Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism

Stephanie C. Bohaczuk et al.

Summary: This study identified a novel upstream regulator of FSHB transcription and indicated that rs11031006 can modulate FSH levels.

ENDOCRINOLOGY (2021)

Article Biochemistry & Molecular Biology

Identification of Key Receptor Residues Discriminating Human Chorionic Gonadotropin (hCG)- and Luteinizing Hormone (LH)-Specific Signaling

Clara Lazzaretti et al.

Summary: The study focused on identifying key residues in LHCGR that are likely evolved in humans to discriminate between specific binding of LH and hCG. Mutations within the receptor's leucine reach repeat 9 and 10 were found to lead to loss of discrimination ability, resembling the modulation of Lhr-mediated signaling patterns.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Andrology

FSHB and FSHR gene variants exert mild modulatory effect on reproductive hormone levels and testis size but not on semen quality: A study of 2020 men from the general Danish population

Anne Kirstine Bang et al.

Summary: This study explored the effects of three FSH-related SNPs on testicular function in healthy men, finding that these polymorphisms have minor effects on testicular function but subtle effects on FSH levels, possibly related to altered Leydig cell function.

ANDROLOGY (2021)

Article Obstetrics & Gynecology

Pituitary response to GnRH stimulation tests in different FSHB-211 G/T genotypes

Andrea Sansone et al.

Summary: The FSHB-211 G > T polymorphism affects pituitary response to exogenous GnRH stimulation by reducing FSH and increasing LH outputs. TT carriers displayed significantly higher peak levels of LH compared to GT and GG carriers, with no significant difference in stimulated FSH levels.

HUMAN REPRODUCTION (2021)

Article Obstetrics & Gynecology

The effect of polymorphisms in FSHR and FSHB genes on ovarian response: a prospective multicenter multinational study in Europe and Asia

Nikolaos P. Polyzos et al.

Summary: The presence of FSHR SNPs has a statistically significant impact on ovarian response in predicted normal responders treated with a fixed dose of 150 IU rFSH, although this effect is of minimal clinical relevance.

HUMAN REPRODUCTION (2021)

Article Biochemistry & Molecular Biology

Mol* Viewer: modern web app for 3D visualization and analysis of large biomolecular structures

David Sehnal et al.

Summary: Large biomolecular structures are being determined experimentally using established techniques such as crystallography and electron microscopy, with performance requirements for visualization and analysis tools increasing rapidly. The Mol* Viewer is an advanced online web-native 3D visualization tool that allows visualization of complex structures, and is the primary tool used by PDBe and RCSB PDB.

NUCLEIC ACIDS RESEARCH (2021)

Article Endocrinology & Metabolism

Effect of LHCGR Gene Polymorphism (rs2293275) on LH Supplementation Protocol Outcomes in Second IVF Cycles: A Retrospective Study

G. A. Ramaraju et al.

Summary: A personalized pharmacogenomic approach to LH supplementation can improve pregnancy and live birth rates in IVF patients. Analyzing the N312S gene variant and determining the corresponding r-hLH supplementation protocol can help patients achieve higher success rates.

FRONTIERS IN ENDOCRINOLOGY (2021)

Article Endocrinology & Metabolism

Rescue of Cell Surface Expression and Signaling of Mutant Follicle-Stimulating Hormone Receptors

Sharika Hanyroup et al.

Summary: The study demonstrated the rescue of certain mutant FSHRs with poor cell surface expression and functionality using the pharmacological chaperone CAN1404. This finding contributes to understanding the effects of genetic mutations on GPCR function and provides evidence for the therapeutic potential of FSHR pharmacological chaperones.

ENDOCRINOLOGY (2021)

Article Genetics & Heredity

Utilization of in vitro maturation in cases with a FSH receptor mutation

Achraf Benammar et al.

Summary: This study identified a new FSHR variant in a 28-year-old woman with secondary amenorrhea, primary infertility, and ovarian resistance to FSH. The research also led to the development of an IVM algorithm for patients with gonadotropin resistance syndrome (GRS).

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)

Review Obstetrics & Gynecology

A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome

Tatiana Castillo-Higuera et al.

Summary: PCOS is a common endocrine-metabolic disorder in women of reproductive age, with a polygenic nature involving multiple single nucleotide polymorphisms. Research has primarily focused on Asian and European populations, identifying common genes associated with PCOS such as DENND1A, THADA, FSHR, and LHCGR, while other genes like AMH, AMHR2, ADIPOQ, FTO, HNF1A, CYP19, YAP1, HMGA2, RAB5B, SUOX, INSR, and TOX3 have also been linked to PCOS. However, the biological functions of these genes and their relationship with the pathology remain unclear.

REPRODUCTIVE SCIENCES (2021)

Article Genetics & Heredity

Clinical and genetic analysis of an isolated follicle-stimulating hormone deficiency female patient

Lixia Zhu et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2020)

Review Immunology

Human Chorionic Gonadotrophin: New Pleiotropic Functions for an Old Hormone During Pregnancy

Virginie Gridelet et al.

FRONTIERS IN IMMUNOLOGY (2020)

Article Genetics & Heredity

Gonadotropin receptor variants are linked to cumulative live birth rate after in vitro fertilization

I. Lindgren et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2019)

Article Biotechnology & Applied Microbiology

The N680S variant in the follicle-stimulating hormone receptor gene identifies hyperresponders to controlled ovarian stimulation

Hannah A. Nenonen et al.

PHARMACOGENETICS AND GENOMICS (2019)

Review Endocrinology & Metabolism

Follicle Stimulating Hormone Receptor (FSHR) Polymorphisms and Polycystic Ovary Syndrome (PCOS)

Joop S. E. Laven

FRONTIERS IN ENDOCRINOLOGY (2019)

Article Biochemistry & Molecular Biology

The implication of single-nucleotide polymorphisms in ovarian hyperstimulation syndrome

Sayyed Mohammad Hossein Ghaderian et al.

MOLECULAR REPRODUCTION AND DEVELOPMENT (2019)

Review Endocrinology & Metabolism

Molecular Mechanisms of Action of FSH

Livio Casarini et al.

FRONTIERS IN ENDOCRINOLOGY (2019)

Article Endocrinology & Metabolism

Pregnancy and Live Birth In Women With Pathogenic LHCGR Variants Using Their Own Oocytes

Xuefeng Lu et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Article Biochemistry & Molecular Biology

Effects of a Polymorphism in the Promoter Region of the Follicle-Stimulating Hormone Subunit Beta (FSHB) Gene on Female Reproductive Outcomes

Camila Martins Trevisan et al.

GENETIC TESTING AND MOLECULAR BIOMARKERS (2019)

Article Endocrinology & Metabolism

FSHB-211 G>T Polymorphism as Predictor for TESE Success in Patients With Unexplained Azoospermia

Alexander Siegfried Busch et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2019)

Review Endocrinology & Metabolism

Gonadotropins and Their Analogs: Current and Potential Clinical Applications

Ross C. Anderson et al.

ENDOCRINE REVIEWS (2018)

Review Endocrinology & Metabolism

MECHANISMS IN ENDOCRINOLOGY Hormonal regulation of spermatogenesis: mutant mice challenging old paradigms

Ilpo Huhtaniemi

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2018)

Article Genetics & Heredity

Homozygous nonsense mutation Trp28X in the LHB gene causes male hypogonadism

Xiaoyu Yang et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2018)

Review Endocrinology & Metabolism

Actions of pituitary hormones beyond traditional targets

Mone Zaidi et al.

JOURNAL OF ENDOCRINOLOGY (2018)

Review Biochemistry & Molecular Biology

Structure and dynamics of GPCR signaling complexes

Daniel Hilger et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2018)

Review Biochemistry & Molecular Biology

Structure and dynamics of GPCR signaling complexes

Daniel Hilger et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2018)

Letter Medicine, General & Internal

Hypogonadotrophic hypogonadism due to a mutation in the luteinizing hormone β-subunit gene

Jae Won Song et al.

KOREAN JOURNAL OF INTERNAL MEDICINE (2018)

Review Endocrinology & Metabolism

FSHR Trans-Activation and Oligomerization

Kamila Szymanska et al.

FRONTIERS IN ENDOCRINOLOGY (2018)

Review Obstetrics & Gynecology

The gonadotropin system, lessons from animal models and clinical cases

Kamila Szymanska et al.

MINERVA GINECOLOGICA (2018)

Article Genetics & Heredity

Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility

Junjie Zheng et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)

Article Obstetrics & Gynecology

Genetics of gonadotropins and their receptors as markers of ovarian reserve and response in controlled ovarian stimulation

Laura Riccetti et al.

BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY (2017)

Article Endocrinology & Metabolism

Variants in FSHB Are Associated With Polycystic Ovary Syndrome and Luteinizing Hormone Level in Han Chinese Women

Ye Tian et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Article Endocrinology & Metabolism

A vital region for human glycoprotein hormone trafficking revealed by an LHB mutation

Iulia Potorac et al.

JOURNAL OF ENDOCRINOLOGY (2016)

Article Genetics & Heredity

LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

Carla Regina Schmitz et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2015)

Article Genetics & Heredity

A novel compound heterozygous mutation of the luteinizing hormone receptor -implications for fertility

Frederic Mitri et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2014)

Article Genetics & Heredity

Association of rs7260002 of chorionic gonadotrophin β5 with idiopathic recurrent spontaneous abortion in Chinese population

Yong Sun et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2014)

Review Cell Biology

Luteinizing hormone and human chorionic gonadotropin: Origins of difference

Janet Choi et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)

Article Cell Biology

FSHR polymorphism p.N680S mediates different responses to FSH in vitro

Livio Casarini et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2014)

Article Developmental Biology

Localization of luteinizing hormone receptor protein in the human ovary

Y. Yung et al.

MOLECULAR HUMAN REPRODUCTION (2014)

Review Endocrinology & Metabolism

Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes

Hernan Valdes-Socin et al.

FRONTIERS IN ENDOCRINOLOGY (2014)

Article Endocrinology & Metabolism

Ovulation Involves the Luteinizing Hormone-Dependent Activation of Gq/11 in Granulosa Cells

Shawn M. Breen et al.

MOLECULAR ENDOCRINOLOGY (2013)

Article Multidisciplinary Sciences

Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy

Jo Ann Janovick et al.

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

Article Endocrinology & Metabolism

Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form

Sabrina Basciani et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

Combined Effects of the Variants FSHB-211G>T and FSHR 2039A>G on Male Reproductive Parameters

Frank Tuettelmann et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Developmental Biology

Structural and functional analysis of rare missense mutations in human chorionic gonadotrophin β-subunit

Liina Nagirnaja et al.

MOLECULAR HUMAN REPRODUCTION (2012)

Article Obstetrics & Gynecology

Inactivating Mutations of the Human Luteinizing Hormone Receptor in Both Sexes

Ana Claudia Latronico et al.

SEMINARS IN REPRODUCTIVE MEDICINE (2012)

Article Multidisciplinary Sciences

Structure of a nanobody-stabilized active state of the β2 adrenoceptor

Soren G. F. Rasmussen et al.

NATURE (2011)

Article Multidisciplinary Sciences

Crystal structure of the β2 adrenergic receptor-Gs protein complex

Soren G. F. Rasmussen et al.

NATURE (2011)

Article Endocrinology & Metabolism

Effect of Polymorphisms in Selected Genes Involved in Pituitary-Testicular Function on Reproductive Hormones and Phenotype in Aging Men

Ilpo T. Huhtaniemi et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Review Cell Biology

Genomics and genetics of gonadotropin beta-subunit genes: Unique FSHB and duplicated LHB/CGB loci

Liina Nagirnaja et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2010)

Article Biochemistry & Molecular Biology

Critical Involvement of the Hinge Region of the Follicle-stimulating Hormone Receptor in the Activation of the Receptor

Gaurav Agrawal et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Medicine, General & Internal

Brief Report: Normal Spermatogenesis in a Man with Mutant Luteinizing Hormone.

Caroline Achard et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Multidisciplinary Sciences

MAPK3/1 (ERK1/2) in Ovarian Granulosa Cells Are Essential for Female Fertility

Heng-Yu Fan et al.

SCIENCE (2009)

Article Endocrinology & Metabolism

Chorionic Gonadotropin β-Gene Variants Are Associated with Recurrent Miscarriage in Two European Populations

Kristiina Rull et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Cell Biology

Molecular pathology of the FSH receptor: New insights into FSH physiology

G. Meduri et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2008)

Article Biotechnology & Applied Microbiology

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene:: association with maldescended testes and male infertility

Manuela Simoni et al.

PHARMACOGENETICS AND GENOMICS (2008)

Article Endocrinology & Metabolism

No evidence of the human chorionic gonadotropin-beta gene 5 βV79M polymorphism in Mexican women

Pablo Dominguez-Lopez et al.

ENDOCRINE (2008)

Article Medicine, General & Internal

Luteinizing hormone beta mutation and hypogonadism in men and women

Adriana Lofrano-Porto et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Endocrinology & Metabolism

Association of common LH variant with hyperfunctional promoter in a Japanese infertile woman

SY Liu et al.

ENDOCRINE JOURNAL (2005)

Article Endocrinology & Metabolism

Mutations in human gonadotropin and gonadotropin-receptor genes

IT Huhtaniemi et al.

ENDOCRINE (2005)

Article Multidisciplinary Sciences

Structure of human follicle-stimulating hormone in complex with its receptor

QR Fan et al.

NATURE (2005)

Article Medicine, General & Internal

Brief report: Hypogonadism in a patient with a mutation in the luteinizing hormone beta-subunit gene

H Valdes-Socin et al.

NEW ENGLAND JOURNAL OF MEDICINE (2004)

Article Endocrinology & Metabolism

Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation

NP Mongan et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2002)

Review Pharmacology & Pharmacy

A common genetic variant of luteinizing hormone; relation to normal and aberrant pituitary-gonadal function

T Lamminen et al.

EUROPEAN JOURNAL OF PHARMACOLOGY (2001)