Open AccessAMH and AMHR2 Involvement in Congenital Disorders of Sex Development
Author(s) -
F. Brunello,
Rodolfo Rey
Publication year - 2021
Publication title -
sexual development
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.528
H-Index - 44
eISSN - 1661-5433
pISSN - 1661-5425
DOI - 10.1159/000518273
Subject(s) - biology , anti müllerian hormone , medicine , endocrinology , exon , mullerian ducts , uterus , disorders of sex development , fetus , hormone , gene , genetics , pregnancy
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.