Cantú J M, Corona-Rivera E, Díaz M, Medina C, Esquinca E, Cortés-Gallegos V, Vaca G, Hernández A
Acta Endocrinol (Copenh). 1980 Jun;94(2):273-9. doi: 10.1530/acta.0.0940273.
An 18 year-old 46,XY female-reared patient with incomplete male pseudohermaphroditism type 2 (5 alpha-reductase deficiency) was studied. She had a male habitus, Wolffian ducts derivatives, normal testes and small phallus; there were no Mullerian duct derivatives nor gynaecomastia. Clinical and genetic data were typical of the diagnosis which was corroborated by endocrinological studies. Normal LH, FSH, testosterone (T) and oestradiol and decreased dihydrotestosterone (DHT) plasma levels before and after hCG administration were found; the T:DHT ratio was highly increased. The histopathological studies of a testis biopsy showed a normal adult male pattern, and the meiotic chromosomes were interpreted as normal. After assessment of her psychosexual orientation, successful surgical and medical therapy to maintain and improve her femaleness was effectuated. The post-pubertal gender role switch commonly observed in these female-reared patients is discussed.
对一名18岁、按女性养育的46,XY患者进行了研究，该患者患有2型不完全性男性假两性畸形（5α-还原酶缺乏症）。她具有男性体型、中肾管衍生物、正常睾丸和小阴茎；无苗勒管衍生物及乳腺增生。临床和基因数据符合该诊断，内分泌学研究也证实了这一点。发现人绒毛膜促性腺激素（hCG）给药前后促黄体生成素（LH）、促卵泡生成素（FSH）、睾酮（T）和雌二醇水平正常，而血浆双氢睾酮（DHT）水平降低；T:DHT比值显著升高。睾丸活检的组织病理学研究显示为正常成年男性模式，减数分裂染色体被解释为正常。在评估其心理性取向之后，实施了成功的手术和药物治疗以维持并改善其女性特征。文中讨论了这些按女性养育的患者中常见的青春期后性别角色转换。
