Sultan Charles, Lumbroso Serge, Paris Françoise, Jeandel Claire, Terouanne B, Belon Charles, Audran F, Poujol N, Georget V, Gobinet J, Jalaguier S, Auzou G, Nicolas J C
Pediatric Endocrine Unit, Department of Pediatrics, Hôpital A. de Villeneuve, CHU Montpellier, 34295 Montpellier Cedex, France.
Semin Reprod Med. 2002 Aug;20(3):217-28. doi: 10.1055/s-2002-35386.
Disorders of androgen action are the main cause of male pseudohermaphroditism and include 5alphaR deficiency and androgen receptor defects. 5alphaR deficiency is characterized by female genitalia with some degree of masculinization, clitoromegaly, and severely bifid scrotum corresponding to the so-called pseudovaginal perineoscrotal hypospadias. At the onset of puberty, increased muscle mass, development of pubic hair, and phallic growth are associated with the acquisition of male gender identity. Normal or increased levels of testosterone and an elevated testosterone-to-dihydrotestosterone ratio after human chorionic gonadotropin stimulation testing suggest 5alphareductase deficiency, and the diagnosis can be ascertained by identifying the mutation in the 5alphaR-2 gene. Whatever the patient's age at diagnosis, psychological evaluation with 5alphaRD is vital. Androgen receptor defects encompass two clinical expressions: the complete and partial androgen insensitivity syndromes. Complete androgen insensitivity syndrome should be suspected at birth in the presence of inguinal hernia in a girl without genital ambiguity. At puberty, the sign of alert is primary amenorrhea with normal female phenotype and harmonious mammary development but no pubic hair growth. Partial androgen insensitivity syndrome covers a wide spectrum of undervirilized phenotypes ranging from clitoromegaly at birth to infertile men. In all cases, complementary investigations should include plasma testosterone and luteinizing hormone as well as androgen-binding capacity in cultured genital skin fibroblasts. Diagnosis is confirmed by identification of the androgen receptor gene mutation. Although patients with complete androgen insensitivity syndrome are raised as females, patients with partial androgen insensitivity syndrome should be managed according to age at diagnosis, response to treatment with exogenous androgens, and the presence of an androgen gene mutation. Gonadectomy in complete androgen insensitivity syndrome should be performed before puberty, and androgen substitution may improve the development of external genitalia in some patients with partial androgen insensitivity syndrome. Psychological follow-up is necessary.
雄激素作用障碍是男性假两性畸形的主要原因，包括5α还原酶缺乏和雄激素受体缺陷。5α还原酶缺乏的特征是女性生殖器伴有一定程度的男性化、阴蒂肥大以及与所谓的假阴道会阴阴囊型尿道下裂相对应的严重分裂阴囊。在青春期开始时，肌肉量增加、阴毛生长和阴茎发育与男性性别认同的获得相关。人绒毛膜促性腺激素刺激试验后睾酮水平正常或升高以及睾酮与双氢睾酮比值升高提示5α还原酶缺乏，通过鉴定5αR-2基因中的突变可确诊。无论患者诊断时的年龄如何，对5α还原酶缺乏症进行心理评估至关重要。雄激素受体缺陷包括两种临床表现：完全性和部分性雄激素不敏感综合征。完全性雄激素不敏感综合征在出生时若女孩存在腹股沟疝且无生殖器模糊时应怀疑。在青春期，警示信号是原发性闭经，具有正常女性表型和协调的乳腺发育但无阴毛生长。部分性雄激素不敏感综合征涵盖了从出生时阴蒂肥大到不育男性等广泛的男性化不足表型。在所有情况下，辅助检查应包括血浆睾酮和黄体生成素以及培养的生殖器皮肤成纤维细胞中的雄激素结合能力。通过鉴定雄激素受体基因突变来确诊。虽然完全性雄激素不敏感综合征患者按女性抚养，但部分性雄激素不敏感综合征患者应根据诊断时的年龄、对外源性雄激素治疗的反应以及雄激素基因突变的存在情况进行管理。完全性雄激素不敏感综合征应在青春期前进行性腺切除术，雄激素替代可能改善部分性雄激素不敏感综合征患者的外生殖器发育。心理随访是必要的。
