Hamin Jarna Naing, Arkoncel Francis Raymond P, Lantion-Ang Frances Lina, Sandoval Mark Anthony S
Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.
BMJ Case Rep. 2012 Feb 10;2012:bcr1220103626. doi: 10.1136/bcr.12.2010.3626.
Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital. At birth, the perceived female external genitalia and clitoromegaly, led the parents to register and eventually rear the patient as a female. At puberty, he developed masculine features and growth of phallus. Patient was more interested in male activities and began to identify himself as male in the community. The discrepancy between his birth certificate and his male gender jeopardised his ambition to become a policeman; this led him to seek medical consult. On physical examination, he was phenotypically male. The external genitalia showed the phallus length of 3.5 cm and perineoscrotal hypospadias. Chromosomal sex was normal 46 XY with neither numerical nor structural aberrations in all cell lines, serum testosterone was low and gonadotrophins were elevated. Whole abdominal CT scan showed bilaterally undescended testes and a 4.5 cm blind vaginal pouch seen on genitogram. Bilateral orchidectomy with first stage repair of hypospadias was performed. On histopathology, the right testis was fibrotic and the left testis showed minimal testicular tissue with absent spermatids. The clinical, endocrine, cytogenetic and histopathologic data are consistent with gonadal dysgenesis syndrome.
性发育障碍（DSD）包括染色体、性腺或解剖学性别发育异常的先天性疾病。2000年，奥斯特勒报告46 XY DSD和完全性性腺发育不全的患病率为1:20000。一名21岁的患者因性征模糊到菲律宾总医院门诊部就诊。出生时，因其外生殖器看似女性且阴蒂增大，父母将其登记并最终当作女性抚养。青春期时，他出现男性特征且阴茎生长。患者对男性活动更感兴趣，并开始在社区中认同自己为男性。他的出生证明与男性性别之间的差异危及了他成为警察的抱负，这促使他寻求医学咨询。体格检查时，他的表型为男性。外生殖器显示阴茎长度为3.5厘米，会阴阴囊型尿道下裂。染色体性别正常，为46 XY，所有细胞系均无数量或结构异常，血清睾酮水平低，促性腺激素水平升高。全腹CT扫描显示双侧睾丸未降，生殖器官造影显示有一个4.5厘米的盲端阴道囊袋。进行了双侧睾丸切除术并一期修复尿道下裂。组织病理学检查显示，右侧睾丸纤维化，左侧睾丸显示少量睾丸组织，无精子细胞。临床、内分泌、细胞遗传学和组织病理学数据与性腺发育不全综合征相符。
