Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a pathological condition characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus and of the upper vagina. The development of secondary sexual characters is normal as well as that the karyotype (46,XX). Etiologically, this syndrome may be caused by the lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. To explain this condition, it has been suggested that in patients with MRKH syndrome, there is a very strong hyperincretion of Müllerian-inhibiting factor (MIF), which would provoke the lack of development of the Müllerian ducts from primitive structures (as what normally occurs in male phenotype). These alterations are commonly associated with renal agenesis or ectopia. Specific mutations of several genes such as WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 involved in the earliest stages of embryonic development could play a key role in the etiopathogenesis of this syndrome. Besides, it seems that the other two genes, TCF2 (HNF1B) and LHX1, are involved in the determinism of this pathology. Currently, the most widely nonsurgical used techniques include the “Frank’s dilators method,” while the surgical ones most commonly used are those developed by McIndoe, Williams, Vecchietti, Davydov, and Baldwin. 1. Aim This current paper of literature aims at investigating the most recent outcomes of studies related to Mayer-Rokitansky-Küster-Hauser syndrome, focusing mainly on the embryological and genetic profile, in order to lead future diagnostic and therapeutic studies. 2. Materials and Methods 2.1. Materials A complete research of the literature has been carried out using keywords, such as Mayer-Rokitansky-Küster-Hauser. Database of PubMed and Cochrane have been used as sources, focusing the analysis on the studies that provided clinical evidence. The research has been extended to publications on American Society of Reproductive Medicine, Human Reproduction Journal, European Journal of Obstetrics and Gynaecology and Reproductive Biology, Gynecological Endocrinology, Orphanet Journal of Rare Disease, Fertility and Sterility, Journal of Medical Genetics, American Journal of Obstetrics and Gynaecology, The American College of Obstetricians and Gynaecologists, and other relevant ones. 2.2. Method The research focused on a critical revision of data of studies about epidemiology, aetiopathogenesis, diagnosis and therapy of Mayer-Rokitansky-Küster-Hauser syndrome, with a particular reference to the study of genetic mutations and to the effects
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