Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: a comprehensive update.

ABSTRACT:

Background

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX).

Main body

The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point toward

SUBMITTER: Herlin MK 

PROVIDER: S-EPMC7439721 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature