Güitrón A, Forsbach G, González J M, Garza J G, Vázquez J, Espinoza G
Departamento de Ginecología, Hospital de Gineco Obstetricia Dr. Morones, IMSS, NL.
Ginecol Obstet Mex. 1998 Jan;66:21-3.
A nineteen years old woman with ambiguous external genitalia was studied. This condition had been previously identified as a newborn, but her parents refused medical attention and it was reared as a girl. At 12-years, she began spontaneous mammary development, appearing pubic and axillary hair, and clitoral enlargement. The menarche occurred at 15-years and it was followed by irregular periods. Physical examination, showed absence of hirsutism and acne, normal mammary development equivalent to grade V of Tanner. The external genitalia showed fused labio-scrotal folds with an small introitus. The urethral meatus was absent and was later located inside the introitus. There was a big phallus similar to an adult penis with a normal glans, flexed by a chordee. Hormonal determinations discarded congenital adrenal hyperplasia. The karyotype was 46,XX and testosterone levels were in adult male range. Pelvic ultrasonography disclosed a normal uterus and both gonads in confirmed by laparoscopy identifying bilateral ovotestis. Testicular tissue was removed and plastic reconstruction of female genitals was done.
对一名19岁外生殖器模糊的女性进行了研究。这种情况在其新生儿时期就已被发现，但她的父母拒绝医疗干预，孩子一直作为女孩抚养。12岁时，她开始出现乳房自发发育、阴毛和腋毛生长以及阴蒂增大。月经初潮发生在15岁，随后月经不规律。体格检查显示无多毛症和痤疮，乳房发育正常，相当于坦纳五级。外生殖器表现为阴唇阴囊褶融合，阴道口小。尿道口缺失，后位于阴道口内。有一个类似成年阴茎的大阴茎，龟头正常，因阴茎下弯而弯曲。激素测定排除了先天性肾上腺皮质增生症。核型为46,XX，睾酮水平处于成年男性范围内。盆腔超声显示子宫正常，腹腔镜检查证实双侧性腺为卵睾。切除了睾丸组织，并进行了女性生殖器整形重建。
