Male Hypogonadism Due to a Mutation in the Gene for the beta-Subunit of Follicle-Stimulating Hormone

Phillip, Moshe; Arbelle, Jonathan E.; Segev, Yael; Parvari, Ruti

doi:10.1097/00005392-199902000-00119

Cited by 27 publications

(33 citation statements)

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“…Thus, the women all show sexual infantilism and infertility as a result of a lack of follicle growth and differentiation in the absence of bioactive FSH. However, the three men with FSHb mutations are all normally masculinized but azoospermic (Lindstedt et al 1998, Phillip et al 1998, Layman et al 2002. This phenotype is at variance with the male phenotype caused by FSH receptor mutations where, notwithstanding reduced sperm quality, fertility is maintained (Tapanainen et al 1997).…”

Section: Fshb Mutationsmentioning

confidence: 97%

An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms

Themmen¹

2005

Reproduction

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New information about mutations and polymorphisms in the genes for the gonadotrophins and their receptors has become available in the last few years. In this short review mutations and polymorphisms in gonadotrophins, their receptors and their patho-physiological effects and implications are discussed. An increasingly clear picture about the structure -function relationships of gonadotrophin action is emerging from the combining the types and the locations of the mutations with their phenotypic effects and the information about the crystal structure of these molecules.

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Section: Fshb Mutationsmentioning

confidence: 97%

An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms

Themmen¹

2005

Reproduction

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“…No mutation in the gonadotropin-releasing hormone (GnRH) gene has been found in men (6) in contrast to mice (7). Mutations in the luteinizing hormone (LH) b subunit (8), follicle-stimulating hormone (FSH) b subunit (9) and GnRH receptor (10 -13) genes have been previously reported in only a few patients with sporadic IHH. Conversely, IHH can reveal a pituitary or supra-pituitary tumor where it is necessary to perform magnetic resonance imaging (MRI) for a precise diagnosis and early adequate treatment.…”

Section: Introductionmentioning

confidence: 99%

The human chorionic gonadotropin test is more powerful than the gonadotropin-releasing hormone agonist test to discriminate male isolated hypogonadotropic hypogonadism from constitutional delayed puberty

Degros

Cortet‐Rudelli²,

Soudan³

et al. 2003

European Journal of Endocrinology

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Objective: The effectiveness of biological investigations aiming at discriminating isolated hypogonadotropic hypogonadism (IHH) from constitutional delayed puberty (CDP) in male patients is still controversial. We revisited the diagnostic power of the basal serum testosterone level, the Triptorelin test and the human chorionic gonadotropin (hCG) test in a cohort of 33 boys with delayed puberty. Design: Boys were aged 14.2 to 26.2 years at referral. A 5-year-long clinical follow-up after the initial study allowed confirmation of the diagnosis. At the end of the follow-up period, IHH was found in 13 patients while the other 20 had normal spontaneous pubertal development (CDP). Results: At referral, a basal morning testosterone level . 1.7 nmol/l was observed in 55% of patients with CDP exclusively (predictive positive value (PPV) ¼ 100%; predictive negative value (PNV) ¼ 59%). For CDP, the PPV of the LH peak 3 h after Triptorelin was 100% by setting the upper threshold at 14 IU/l and the PNV was 72%. However, no lower threshold could discriminate IHH from CDP in the remaining patients with an LH peak 3 h after Triptorelin ,14 IU/l. In CDP patients, the PPV of the serum testosterone increment after hCG stimulation (DT/hCG) was 100% for values .9 nmol/l (PNV ¼ 72%). In IHH patients, the PPV of DT/hCG was 100% for values , 3 nmol/l (PNV ¼ 82%). Only 29% of the studied population had a DT/hCG between these lower and upper thresholds and therefore could not have been classified initially. Conclusions: (i) Dynamic testing for the diagnosis of delayed puberty is useful only when the basal testosterone level is lower than 1.7 nmol/l; (ii) in that case, the hCG test has better discriminating power than the Triptorelin test and appears as the best cost-effective investigation. It prevents useless and expensive investigations in about one-half of CDP patients with a basal morning testosterone level lower than 1.7 nmol/l.

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“…As discussed above, mouse FSHβ (Kumar et al, 1997) and FSHR (Abel et al, 2000;Dierich et al, 1998) knockout phenotypes are both fertile with slight reduction of sperm quality. Inactivating mutations of FSHβ in humans cause azoospermia (Layman et al, 2002;Lindstedt et al, 1998;Phillip et al, 1998), but individuals with FSHR inactivation are oliozoospermic, and some have even sired children (Tapanainen et al, 1997). The exact human phenotype of FSH inactivation therefore remains unclear.…”

Section: Post-natal Developmentmentioning

confidence: 99%

Role of androgen and gonadotrophins in the development and function of the Sertoli cells and Leydig cells: Data from mutant and genetically modified mice

O’Shaughnessy

Morris

Huhtaniemi

et al. 2009

Molecular and Cellular Endocrinology

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Male Hypogonadism Due to a Mutation in the Gene for the beta-Subunit of Follicle-Stimulating Hormone

Cited by 27 publications

References 1 publication

An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms

An update of the pathophysiology of human gonadotrophin subunit and receptor gene mutations and polymorphisms

The human chorionic gonadotropin test is more powerful than the gonadotropin-releasing hormone agonist test to discriminate male isolated hypogonadotropic hypogonadism from constitutional delayed puberty

Role of androgen and gonadotrophins in the development and function of the Sertoli cells and Leydig cells: Data from mutant and genetically modified mice

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