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Abstract：
We report a case of an SRY-positive 46,XX Indian male who presented with small testis and phallus, poor beard and mustache development and gynecomastia at the age of 24 years. He was biochemically found to have hypergonadotropic hypogonadism. He had 46,XX karyotype and Quantitative Fluorescence-PCR (QF-PCR) identified the SRY gene on the X chromosome. SRY-positive 46 XX male SRS cases usually present as phenotypically male since birth but develop features of hypogonadism, poor testicular development, and infertility after puberty. Infertility, hypogonadism, external genital development, and psychological distress are the major concerns during the management of the patients. Testosterone therapy for hypogonadism, artificial reproductive technologies for fertility, surgical repair of hypospadias/ cryptorchidism/under-virilized genitalia and psychological and genetic counseling are helpful for proper management of the patients.
摘要：
我们报告了一例SRY阳性的46，XX印度男性，睾丸和阴茎小，在24岁时，胡须和胡须发育不良以及男子乳房发育症。在生化方面发现他患有促性腺激素性性腺功能减退症。他有46，XX核型，定量荧光PCR（QF-PCR）鉴定了X染色体上的SRY基因。SRY阳性46XX男性SRS病例从出生后通常表现为表型男性，但发展为性腺功能减退的特征，睾丸发育不良,青春期后不孕。不孕症,性腺功能减退,外生殖器发育，和心理困扰是患者管理期间的主要问题。睾酮治疗性腺功能减退,用于生育的人工生殖技术，尿道下裂/隐睾/欠毒性生殖器的手术修复以及心理和遗传咨询有助于患者的正确管理。
