1997
DOI: 10.1038/ng0297-205
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Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility

Abstract: Gonadal function is controlled by the two pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH). While LH mainly regulates gonadal steroidogenesis, FSH is considered essential for folliculogenesis in the female and spermatogenesis in the male. We recently discovered that an inactivating point mutation in the FSH receptor (R) gene causes a recessively inherited form of hypergonadotropic ovarian failure in homozygous females. This 566C-->T mutation, predicting an alanine to val… Show more

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Cited by 508 publications
(258 citation statements)
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“…The contrast with LH-␤ mutations [12] implies that either the LH receptor itself or constitutively produced T has a role in male fetal sexual differentiation. Inactivating mutations in the FSH receptor result only in oligozoospermia with reduced testicular size and normal fertility [16], similar to the phenotypes observed in FSH-␤ and FSH-receptor knockout mice [17,18]. This finding implies that the presence of FSH is not an absolute requirement for the pubertal initiation and maintenance of spermatogenesis or fertility, a conclusion identical to that ascertained in the FSH and LH depletion experiments in man described above.…”
Section: Endocrine Regulation Of Testicular Functionsupporting
confidence: 81%
“…The contrast with LH-␤ mutations [12] implies that either the LH receptor itself or constitutively produced T has a role in male fetal sexual differentiation. Inactivating mutations in the FSH receptor result only in oligozoospermia with reduced testicular size and normal fertility [16], similar to the phenotypes observed in FSH-␤ and FSH-receptor knockout mice [17,18]. This finding implies that the presence of FSH is not an absolute requirement for the pubertal initiation and maintenance of spermatogenesis or fertility, a conclusion identical to that ascertained in the FSH and LH depletion experiments in man described above.…”
Section: Endocrine Regulation Of Testicular Functionsupporting
confidence: 81%
“…One of the most important biochemical signaling networks involved in controlling normal spermatogenesis in mammals exists between the anterior lobe of the pituitary gland and Sertoli cells in the testis (Griswold et al, 1975(Griswold et al, , 1976(Griswold et al, , 1977Orth, 1984;Singh and Handelsman, 1996;Kumar et al, 1997;Tapanainen et al, 1997;Dierich et al, 1998). The biological events controlled by this endocrine mechanism result from the interaction of follicle-stimulating hormone (FSH) with the FSH receptor and the subsequent transduction of molecular information across the membrane leading to the production of second messengers such as cAMP (Means et al, 1980) and Ca 2 + (Chaudhary et al, 1996;Lalevee et al, 1999) and changes in gene expression.…”
Section: Introductionmentioning
confidence: 99%
“…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%