Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN), CONICET, Buenos Aires, Argentina.
Sex Dev. 2022;16(2-3):138-146. doi: 10.1159/000518273. Epub 2021 Aug 31.
Anti-müllerian hormone (AMH) is 1 of the 2 testicular hormones involved in male development of the genitalia during fetal life. When the testes differentiate, AMH is secreted by Sertoli cells and binds to its specific receptor type II (AMHR2) on the müllerian ducts, inducing their regression. In the female fetus, the lack of AMH allows the müllerian ducts to form the fallopian tubes, the uterus, and the upper part of the vagina. The human AMH gene maps to 19p13.3 and consists of 5 exons and 4 introns spanning 2,764 bp. The AMHR2 gene maps to 12q13.13, consists of 11 exons, and is 7,817 bp long. Defects in the AMH pathway are the underlying etiology of a subgroup of disorders of sex development (DSD) in 46,XY patients. The condition is known as the persistent müllerian duct syndrome (PMDS), characterized by the existence of a uterus and fallopian tubes in a boy with normally virilized external genitalia. Approximately 200 cases of patients with PMDS have been reported to date with clinical, biochemical, and molecular genetic characterization. An updated review is provided in this paper. With highly sensitive techniques, AMH and AMHR2 expression has also been detected in other tissues, and massive sequencing technologies have unveiled variants in AMH and AMHR2 genes in hitherto unsuspected conditions.
抗缪勒管激素（AMH）是参与胎儿期男性生殖器官发育的 2 种睾丸激素之一。当睾丸分化时，AMH 由支持细胞分泌，并与缪勒管上的其特异性受体 II（AMHR2）结合，诱导其退化。在女性胎儿中，缺乏 AMH 可使缪勒管形成输卵管、子宫和阴道上段。人类 AMH 基因定位于 19p13.3，由 5 个外显子和 4 个内含子组成，跨度为 2764bp。AMHR2 基因定位于 12q13.13，由 11 个外显子组成，长 7817bp。AMH 途径的缺陷是 46,XY 患者中一组性发育障碍（DSD）的潜在病因。这种情况被称为持续缪勒管综合征（PMDS），其特征是具有正常男性化外生殖器的男孩存在子宫和输卵管。迄今为止，已有约 200 例 PMDS 患者被报道，具有临床、生化和分子遗传学特征。本文提供了一个最新的综述。随着高灵敏度技术的发展，AMH 和 AMHR2 的表达也在其他组织中被检测到，大规模测序技术揭示了 AMH 和 AMHR2 基因在以前未怀疑的情况下的变异。
