Desai Ankush, Jha Onkar, Iyer Venkateswaran, Dada Rima, Kumar Rakesh, Tandon Nikhil
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
Fertil Steril. 2009 Jul;92(1):391.e13-5. doi: 10.1016/j.fertnstert.2009.02.023. Epub 2009 Mar 26.
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.
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.
报告一例患有巴德-比德尔综合征（BBS）且已知存在低促性腺激素性性腺功能减退的患者，该患者在成年后性腺功能减退出现自发逆转。
病例报告及讨论。
一家三级医院的内分泌科。
一名30岁患有BBS的男性患者。
临床评估、睾丸细针穿刺、激素、细胞遗传学及病理学评估。
血清促性腺激素和睾酮水平以及睾丸穿刺液中精子发生情况。
血清睾酮和促性腺激素水平处于正常成年男性范围内。睾丸穿刺液显示各级生精细胞，包括大量精子和少数完整的生精小管。总体情况似乎与正常精子发生一致。
这是首例男性BBS患者低促性腺激素性性腺功能减退逆转的病例。临床医生应在其他低促性腺激素性性腺功能减退患者中寻找这种逆转情况并给出适当预后。
