Rey R, Picard J Y
National Scientific Research Council (CONICET), Hospital de Niños, Buenos Aires, Argentina.
Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):17-33. doi: 10.1016/s0950-351x(98)80427-8.
In the human male fetus, testes develop by the 7th week and begin to secrete two hormones: anti-müllerian hormone (AMH) induces the regression of müllerian ducts, the anlagen of the uterus, fallopian tubes and upper vagina, upon binding to a specific membrane receptor, whereas testosterone induces the differentiation of the wolffian ducts into the epididymes, vasa deferentia and seminal vesicles. In some target tissues, testosterone is converted to dihydrotestosterone, which is responsible for masculinization of the urogenital sinus and external genitalia. Both androgens act upon binding to the same nuclear receptor. In the absence of AMH and androgen action, or example in the female or in abnormal male differentiation, the internal and external genital primordia differentiate following the female pathway, even in the absence of ovaries. In males, an impaired function of the AMH-dependent pathway results in the persistent müllerian duct syndrome, a disorder characterized by the presence of uterus and fallopian tubes in otherwise normally virilized boys. Several mutations found in the AMH and AMH-receptor genes explain the pathophysiology of this syndrome.
在人类男性胎儿中，睾丸在第7周时开始发育，并开始分泌两种激素：抗苗勒管激素（AMH）与特定的膜受体结合后，会诱导苗勒管（子宫、输卵管和阴道上段的原基）退化；而睾酮则诱导沃尔夫管分化为附睾、输精管和精囊。在一些靶组织中，睾酮会转化为双氢睾酮，它负责泌尿生殖窦和外生殖器的男性化。这两种雄激素都通过与同一核受体结合来发挥作用。例如，在缺乏AMH和雄激素作用的情况下，或者在女性或男性分化异常的情况下，即使没有卵巢，内外生殖器原基也会沿着女性途径分化。在男性中，AMH依赖途径的功能受损会导致持续性苗勒管综合征，这种疾病的特征是在其他方面正常男性化的男孩体内存在子宫和输卵管。在AMH和AMH受体基因中发现的几种突变解释了这种综合征的病理生理学。
