Picard Jean-Yves, Belville Corinne
Unité de Recherches sur l'Endocrinologie du Développement, INSERM U493, Ecole Normale Supérieure, Département de Biologie, 92120 Montrouge.
J Soc Biol. 2002;196(3):217-21.
Anti-müllerian hormone (AMH), a glycoprotein produced by immature Sertoli cells, is responsible in male fetuses for regression of müllerian ducts, the anlagen of Fallopian tubes and uterus in females. AMH binds to a specific type II serine-threonine kinase transmembrane receptor (AMHR-II). A known pathology of AMH and its receptor is the persistent müllerian ducts syndrome (PMDS), a peculiar case of male pseudohermaphroditism, presenting with retention of tubes and uterus in otherwise normally virilized boys, and transmitted with an autosomic recessive mode. Genetic studies on 76 families of patients allowed identification of AMH gene mutations in 45%, and AMHR-II gene mutations in 39% (including a 27 bases deletion in half of the latter). In 15% mutation of none of the two genes was detected, thus mutations are expected in genes coding for other factors of the AMH transduction cascade.
抗苗勒管激素(AMH)是一种由未成熟支持细胞产生的糖蛋白,在男性胎儿中负责苗勒管的退化,苗勒管是女性输卵管和子宫的原基。AMH与一种特定的II型丝氨酸 - 苏氨酸激酶跨膜受体(AMHR-II)结合。AMH及其受体的一种已知病理情况是持续性苗勒管综合征(PMDS),这是一种男性假两性畸形的特殊病例,在其他方面正常男性化的男孩中表现为输卵管和子宫的保留,并以常染色体隐性模式遗传。对76个患者家庭的基因研究发现,45%的患者存在AMH基因突变,39%的患者存在AMHR-II基因突变(其中后者的一半存在27个碱基的缺失)。15%的患者未检测到这两个基因中的任何一个发生突变,因此预计在编码AMH转导级联反应其他因子的基因中会发生突变。