Eur J Endocrinol
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DOI: 10.1530/EJE-07-0494
European Journal of Endocrinology, Vol 158, Issue 6, 921-927
Copyright © 2008 by European Society of Endocrinology
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CASE REPORT

Regulation of spermatogenesis in McCune–Albright syndrome: lessons from a 15-year follow-up.

Filippo De Luca, Valérie Mitchell1, Malgorzata Wasniewska, Teresa Arrigo, Maria Francesca Messina, Mariella Valenzise, Luisa de Sanctis2 and Najiba Lahlou3

Department of Pediatrics, University of Messina, 01924 Messina, Italy1 Laboratory of Spermiology and Histology, CHRU – Faculty of Medicine, 59037 Lille, France2 Department of Pediatrics,, University of Turin, 10126 Turin, Italy and 3 Laboratory for Hormone Biology,, CHU Cochin – Saint Vincent de Paul, 75014 Paris, France

(Correspondence should be addressed to F De Luca who is now at Dipartimento di Scienze Pediatriche Mediche e Chirurgiche, Policlinico Universitario di Messina, Via Consolare Valeria, 98123 Messina, Italy; Email: wasniewska{at}yahoo.it)

Abstract

Context: 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.

Objective: In a boy with MAS, we studied spermatogenesis, testis histology, and immunohistochemistry with the aim to shed light on seminiferous tubule activity.

Design: 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.

Results: 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-βA or anti-βB antibody. MAS R201H mutation was identified in both the testes.

Conclusion: 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 βB-subunit gene, an expression previously reported in the germ and Leydig cells of normal adult subjects.






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