The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia–renal agenesis–cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea. She had well-developed secondary sexual characteristics along with multiple congenital developmental abnormalities such as the absence of uterus, ectopic kidney, cervical vertebral fusion, hemivertebrae, scoliosis, cervical rib, facial asymmetry and growth retardation. Our case highlights the rarity and clinical importance of this syndrome. For the evaluation of primary amenorrhoea in a female with well-developed secondary sexual characteristics, congenital anomalies should be ruled out before hormone and karyotype analyses.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.