Female reproductive tract misdevelopment: comments on Mayer Rokitanski Kuster Hauser syndrome

Abstract

Mayer Rokitanski Kuster Hauser (MRKH) syndrome or the congenital absence of the uterus and vagina accounts for 15% of primary amenorrhea cases and is second to Turner syndrome as the most common cause. Affected individuals have a 46,XX chromosomial constitution and normal secondary sex characteristics. Symmetric uterine buds and fallopian tubes are consistant with type A and asymmetric - with type B MRKH syndrome, the latter being associated with other congenital anomalies (renal, skeletal, ear ovarian and cardiac). We studied four patients aged 18-45 years in which type A MRKH syndrome was established by clinical and gynaecological examination, pelvic and abdominal ultrasonography, explorative laparoscopy cytogenetic analysis and hormonal evaluation. Associated disorders were breast fibroadenoma and Graves disease in one case, congenital glaucoma, keratitis, hypocalcemia and simple goiter in another case and polycystic ovaries with clinical signs of hyperandrogenism in the case which can be related to the genetic defect underlying MRKH syndrome. The presence of associated disorders complicates the management of MRKH syndrome which is complex, requires multidisciplinary approach and decreases further the patient’s quality of life.