Mayer-Rokitansky-Küster-Hauser syndrome, also known as<unk> ,<unk>  aplasia, or vaginal<unk>  is a congenital malformation characterized by a failure of the<unk>  duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion.<unk>  (including absence of the uterus, cervix and/or vagina) is the cause in 15% of cases of primary amenorrhoea. Because most of the vagina does not develop from the<unk>  duct, instead developing from the urogenital sinus, along with the bladder and urethra, it is present even when the<unk>  duct is completely absent. Because ovaries do not develop from the<unk>  ducts, affected people might have normal secondary sexual characteristics but are infertile due to the lack of a functional uterus. However, parenthood is possible through use of gestational surrogates. Mayer–Rokitansky–Küster–Hauser syndrome is hypothesized to be a result of autosomal dominant inheritance with incomplete penetrance and variable expressivity, which contributes to the complexity involved in identifying of the underlying mechanisms causing the condition. Because of the variance in inheritance, penetrance and expressivity patterns, MRKH is subdivided into two types: type 1, in which only the structures developing from the<unk>  duct are affected (the upper vagina, cervix, and uterus), and type 2, where the same structures are affected, but is characterized by the additional malformations of other body systems most often including the renal and skeletal systems. MRKH type 2 includes MURCS<unk>  Renal Cervical Somite). The majority of MRKH syndrome cases are characterized as sporadic, but familial cases have provided evidence that, at least for some patients, MRKH is an inherited disorder. The underlying causes of MRKH syndrome is still being investigated, but several causative genes have been studied for their possible association with the syndrome. Most of these studies have served to rule-out genes as causative factors in MRKH, but thus far, only WNT4 has been associated with MRKH with hyperandrogenism. Reports of MRKH syndrome can be traced back to Hippocrates (460 B.C.–377 B.C.). The medical eponym honors August Franz Josef Karl Mayer (1787–1865), Carl Freiherr von Rokitansky (1804–1878), Hermann Küster (1879–1964) and Georges Andre Hauser (1921–2009).
Müllerian agenesis
XY gonadal dysgenesis
Androgen-induced hermaphroditism
Gonadal dysgenesis
Aromatase deficiency
Persistent Müllerian duct syndrome
Gonadotropin-releasing hormone insensitivity
Androgen insensitivity syndrome