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Reversible hypogonadism in Bardet-Biedl syndrome
Ankush Desai1, Onkar Jha, Venkateswaran Iyer
1Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
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.
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