Mayer–Rokitansky–Kuster–Hauser Syndrome: Case Report

Abstract

Mayer–Rokitansky–Kuster–Hauser syndrome (MRKH) or vaginal agenesis or Mullerian agenesis is a congenital malformation characterized by a failure of the Müllerian duct to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion. Müllerian agenesis (including absence of the uterus, cervix, and/or vagina) is the cause in 15% of cases of primary amenorrhoea. Affected patients usually have normal ovarian function, but present with primary amenorrhea or cyclic abdominal pain. It is the third most common causes of primary amenorrhea after pregnancy and gonadal failure. The exact cause is unknown, occurrence is sporadic, most cases of MRKH syndrome occur in people with no history of the disorder in their family, less often, through generations in families, specific mutations of several genes, such as WTI, WNT4, PAX2, etc., involved in the earliest stages of embryonic development could play a key role. Clinical features are primary amenorrhea, phenotype and karyotype 46XX chromosomes, absent of uterus and vagina, ovaries are intact and ovulation usually occurs, an individual with this condition is hormonally normal, normal development of secondary sexual characteristics, associated renal/skeletal/cardiac abnormalities, typically the vagina is shortened and intercourse may, in some cases, be difficult and painful. Diagnoses are medical and gynaecological examination, ultrasonography, magnetic resonance imaging, laparoscopic, etc. Primary vaginal elongation by dilation is the appropriate first-line approach, for coital function, vaginoplasty may be done a few months before the marriage.