Jarmińska-Jackowiak T, Warenik-Szymankiewicz A, Trzeciak W H
Zakładu Genetyki Człowieka PAN, Poznaniu.
Ginekol Pol. 1995 Jan;66(1):51-8.
Anti-müllerian hormone (AMH) which plays a key role in male sexual differentiation is a glycoprotein, produced by Sertoli cells. In male fetuses AMH is responsible for regression of Müllerian duct, the analgen of uterus, the Fallopian tubes, and 2/3 upper of the vagina, while in female fetuses for a decrease in aromatase activity in granulosa cells of the ovary. Human AMH gene consists of 5 exons: 412, 124, 108, 160 and 856 bp in length, and is localized near the tip of chromosome 19, in subbands 13.2 to 13.3. Mutations of the gene or the receptor of AMH are responsible for clinical symptoms of Persistent Müllerian Duct Syndrome (PMDS) which occurs in subjects with a karyotype 46XY and a male phenotype. Typical case is that of a male with bilateral cryptorchidism and inguinal hernias but normal male genitalia. Uterus and Fallopian tubes are often present in the inguinal canal. In this review data from literature are presented and discussed regarding the structure and function of the AMH and its role in male sexual differentiation.
抗苗勒管激素（AMH）是一种由支持细胞产生的糖蛋白，在男性性分化中起关键作用。在男性胎儿中，AMH负责苗勒管的退化，苗勒管是子宫、输卵管和阴道上2/3的原基，而在女性胎儿中，AMH则导致卵巢颗粒细胞中芳香化酶活性降低。人类AMH基因由5个外显子组成，长度分别为412、124、108、160和856 bp，定位于19号染色体末端13.2至13.3亚带附近。AMH基因或其受体的突变是导致持续性苗勒管综合征（PMDS）临床症状的原因，该综合征发生在核型为46XY且表现为男性表型的个体中。典型病例是一名患有双侧隐睾和腹股沟疝但男性生殖器正常的男性。腹股沟管内常存在子宫和输卵管。在这篇综述中，我们展示并讨论了来自文献的关于AMH的结构和功能及其在男性性分化中的作用的数据。
