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• W2146093276 abstract "McCune-Albright syndrome (MAS) is a disorder caused by a post-zygotic gain-of-function mutation in the gene encoding the Gs-alpha protein. Sexual precocity, common in girls, has been reported in only 15% of boys, and little is known on the long-term evolution of MAS in males.In a boy with MAS, we studied spermatogenesis, testis histology, and immunohistochemistry with the aim to shed light on seminiferous tubule activity.A boy who presented at the age of 2.9 years with sexual precocity, monolateral macroorchidism, increased testosterone levels, and suppressed gonadotropins was followed up until the age of 18.Throughout follow-up testicular asymmetry persisted and gonadotropin and testosterone pattern did not change. At the age of 18, inhibin B was undetectable while alpha-immunoreactive inhibin was within normal range. Anti-Mullerian hormone level was slightly subnormal. Sperm cells were 3,900,000 per ejaculate. Histology of both testes showed spermatogonia, spermatocytes, and, in some tubes, matured spermatozoa. Sertoli cells were markedly stained with anti-inhibin alpha-subunit antibody in both the testes. There was no immunostaining of Sertoli, Leydig, or germ cells with anti-betaA or anti-betaB antibody. MAS R201H mutation was identified in both the testes.The 15-year follow-up in this boy with MAS demonstrated that autonomous testicular activation and gonadotropin suppression persisted over time. This provides an interesting model of active spermatogenesis despite long-term FSH suppression. It also suggests that FSH is needed for the full expression of the inhibin betaB-subunit gene, an expression previously reported in the germ and Leydig cells of normal adult subjects." @default.
• W2146093276 created "2016-06-24" @default.
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• W2146093276 date "2008-06-01" @default.
• W2146093276 modified "2023-10-18" @default.
• W2146093276 title "Regulation of spermatogenesis in McCune–Albright syndrome: lessons from a 15-year follow-up." @default.
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• W2146093276 doi "https://doi.org/10.1530/eje-07-0494" @default.
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