title: [The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: clinical description and genetics].
abstract: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (two-third) of the vagina. It may be isolated (type I) or associated with other malformations (type II or MURCS association). These latter involve the upper urinary tract, the skeleton and, to a lesser extent, the otologic sphere or the heart. The incidence of MRKH syndrome has been estimated as 1 in 4500 women. The prime feature is a primary amenorrhea in women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia. However, the vagina is reduced to a vaginal dimple with variable depth. The ovaries are normal and functional as well as the endocrine status. Karyotype is 46,XX, with no visible chromosome modification. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or malformations and thus require accurate delineation as well as differential diagnosis. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing familial cases now support the hypothesis of a genetic cause currently under investigation. The syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity.
authors: CNRS UMR 6061 génétique et développement, IFR140 GFAS, faculté de médecine, université de Rennes-1, Rennes, France. karine.morcel@chu-rennes.fr
authors: K
authors: K
authors: Morcel
authors: D
authors: D
authors: Guerrier
authors: T
authors: T
authors: Watrin
authors: I
authors: I
authors: Pellerin
authors: J
authors: J
authors: Levêque
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000568:Amenorrhea / Q000209:etiology; D004062:DiGeorge Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D005260:Female; D005602:France / Q000453:epidemiology; D005820:Genetic Testing; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D013577:Syndrome; D014463:Ultrasonography; D014599:Uterus / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*