Sultan Charles, Biason-Lauber Anna, Philibert Pascal
Unite d'Endocrinologie-Gynecologie Pediatriques, Service de Pediatrie I, Hopital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France.
Gynecol Endocrinol. 2009 Jan;25(1):8-11. doi: 10.1080/09513590802288291.
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Mullerian hormone and its receptor, as well as on Wt1, Pax2, Cftr and Hox genes, have been unproductive. Only the Wnt4 gene has been clearly implicated in MRKH syndrome and found to be associated with clinical and/or biological signs of hyperandrogenism in three different works. Beside the multiple malformations that may be associated with MRKH syndrome, such as renal, skeletal, cardiac and auditory defects, MRKH and hyperandrogenism represent a new clinical and genetic disorder.
迈耶-罗基坦斯基-库斯特-豪泽（MRKH）综合征的特征是，具有女性表型的XX个体中苗勒管发育不全，在青春期出现原发性闭经。多种异常情况可能与MRKH综合征相关。针对抗苗勒管激素及其受体基因，以及Wt1、Pax2、Cftr和Hox基因的遗传学研究均未取得成果。只有Wnt4基因被明确认为与MRKH综合征有关，并且在三项不同的研究中发现它与高雄激素血症的临床和/或生物学体征相关。除了可能与MRKH综合征相关的多种畸形，如肾脏、骨骼、心脏和听觉缺陷外，MRKH和高雄激素血症代表了一种新的临床和遗传疾病。
