Reversible hypogonadism in Bardet-Biedl syndrome

Abstract

Objective: To report a patient with Bardet-Biedl Syndrome (BBS) with known hypogonadotrophic hypogonadism who developed spontaneous reversal of hypogonadism in adulthood. Design: Case report and discussion. Setting: Endocrine unit of a tertiary hospital. Patient(s): A 30-year-old male patient with BBS. Intervention(s): Clinical evaluation, fine-needle aspiration of the testes, hormonal, cytogenetic and pathologic evaluation. Main Outcome Measure(s): Serum gonadotropins and testosterone levels and presence of spermatogenesis in testicular aspirate. Result(s): Serum testosterone and gonadotropin levels were within the normal adult male range. Testicular aspirates showed spermatogenic cells of all series, including numerous spermatozoa and a few intact seminiferous tubules. The overall picture appeared to be consistent with normal spermatogenesis. Conclusion(s): This is the first case of reversal of hypogonadotrophic hypogonadism in a male patient with BBS. Clinicians should look for such reversal in other patients with hypogonadotrophic hypogonadism and give appropriate prognosis.