title: Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: a case report and review of the literature.
abstract: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a familial case of two female cousins with MRKH syndrome and unilateral renal agenesis. Family history revealed two cases of renal agenesis in male relatives and ultrasonographic (US) examination of healthy relatives diagnosed an uncle with multiple renal cysts. We have reviewed the literature on familial occurrence of MRKH syndrome and its associated anomalies and collected a total of 67 familial cases. We found familial cases to share the same associated anomalies as sporadic cases and we discuss the necessity of US examination of healthy relatives.
authors: Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
authors: Morten
authors: M
authors: Herlin
authors: Allan T
authors: AT
authors: Højland
authors: Michael B
authors: MB
authors: Petersen
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D000013:Congenital Abnormalities / Q000473:pathology*; D005190:Family; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome; D055815:Young Adult
keywords: Mayer-Rokitansky-Küster-Hauser syndrome; Müllerian aplasia; amenorrhea; familial occurrence; hereditary renal agenesis; uterovaginal agenesis; uterus, Müllerian duct anomalies