A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

de Roux, Nicolas; Young, Jacques; Misrahi, Micheline; Genet, Roger; Chanson, Philippe; Schaison, Gilbert; Milgrom, Edwin

doi:10.1056/nejm199711273372205

Cited by 518Hypothalamic control of reproductive hormonesPituitary Gland Disorders and TreatmentsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

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de Roux, Nicolas, Young, Jacques, Misrahi, Micheline, Genet, Roger, Chanson, Philippe, Schaison, Gilbert, Milgrom, Edwin·1997·New England Journal of Medicine

DOI 10.1056/nejm199711273372205

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Abstract

Hypogonadotropic hypogonadism is often associated with anosmia in a condition known as Kallmann's syndrome. The gene for the X-linked form of Kallmann's syndrome has been mapped to chromosome Xp22.3,1 and several mutations have been described.2–4 In idiopathic hypogonadotropic hypogonadism there is no anosmia, and the involved genes have not been characterized. One possible candidate is the gene for gonadotropin-releasing hormone (GnRH), especially since hypogonadal mice with the deletion of this gene have been identified.5 However, no abnormality of the gene for GnRH has been found in several patients with idiopathic hypogonadotropic hypogonadism.6–9 The gene for the GnRH receptor . . .

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Germ-line mutations in GNRHR were among the first genetic mutations identified in patients with IHH.
“Germ-line mutations in GNRHR were among the first genetic mutations identified in patients with IHH.71”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [71]
Gln106Arg maps to the first extracellular loop of the GnRHR and decreases GnRH binding.
“Gln106Arg maps to the first extracellular loop of the GnRHR and decreases GnRH binding.71”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [71]

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Authors: de Roux, N., Young, J., Misrahi, M., Genet, R., Chanson, P., Schaison, G., & Milgrom, E.
ORCID: Young, Jacques
Misrahi, Micheline
Chanson, Philippe
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 1997-11-27
Volume: 337
Issue: 22
Pages: 1597-1603
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejm199711273372205
OpenAlex: W2015386663
Cited by: 518
References: 34
Citations by year: 2026: 6 · 2025: 5 · 2024: 16 · 2023: 12 · 2022: 7 · 2021: 20 · 2020: 7 · 2019: 16 · 2018: 14 · 2017: 14 · 2016: 20 · 2015: 25 · 2014: 20 · 2013: 14 · 2012: 31
FWCI: 11.91
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Keywords: hypogonadotropic hypogonadism, idiopathic hypogonadotropic hypogonadism, GnRH receptor, Kallmann syndrome, anosmia
MeSH terms: Adult, Amino Acid Sequence, Base Sequence, Female, Gonadotropins, Heterozygote, Humans, Hypogonadism, Gonadotropin-Releasing Hormone, Male, Pedigree, Receptors, LHRH, Point Mutation

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A Family with Hypogonadotropic Hypogonadism and Mutations in the Gonadotropin-Releasing Hormone Receptor

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