Abstract
To report a patient with Bardet-Biedl syndrome (BBS) with known hypogonadotrophic hypogonadism who developed spontaneous reversal of hypogonadism in adulthood. Case report and discussion. Endocrine unit of a tertiary hospital. A 30-year-old male patient with BBS. Clinical evaluation, fine-needle aspiration of the testes, hormonal, cytogenetic, and pathologic evaluation. Serum gonadotropins and testosterone levels and presence of spermatogenesis in testicular aspirate. 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. 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.
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