Ontology highlight
ABSTRACT:
SUBMITTER: Shivalingappa SS
PROVIDER: S-EPMC6180887 | biostudies-other | 2016
REPOSITORIES: biostudies-other
BJR case reports 20160203 2
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterized by agenesis of the uterus and vagina in females with normal ovaries and fallopian tubes, secondary sexual characteristics and 46XX karyotype. They present with primary amenorrhoea. Urinary anomalies, usually renal agenesis and rarely ectopia, occur. Skeletal abnormality can co-exist in about 10% of the patients. Simultaneous pulmonary hypoplasia has been reported very rarely in the literature. The normal exter ...[more]