Late Presentation of Mayer-Rokitansky-Kuster-Hauser Syndrome in the Tropics-Northern Nigeria

Abstract

Mayer-Rokitansky-Kuster-Hauser syndrome is a congenital malformation characterized by failure of the mullerian duct to develop, resulting in missing of the uterus and upper part of the vagina in women showing normal development of secondary sexual characteristics and a 46, XX karyotype. It is the second most common cause of primary amenorrhea after Turner’s syndrome. A 30 year old nulliparous lady who has been married for 13years presented with history of primary amenorrhoea. Examination revealed a young lady, with normal female pubic and axillary hair distribution, and breast was at tanner stage 4. Pelvic examination showed a normal sized clitoris, labia majora and minora, normal urethra, and blind ended vagina extending to about 7cm. Abdomino-pelvic USS revealed both kidneys normal in position and size, hypoplastic uterus measuring 1.05cm in antero-posterior diameter, left adnexium and pouch of Douglas were normal. Buccal and peripheral blood smear show Barr bodies and drumstick appendages suggested karyotype is XX. She subsequently had diagnostic laparoscopy which revealed a streak of thickened ligament at the position of the uterus. Both ovaries and their ligaments were visualised with a follicular cyst on the right ovary. We made a diagnosis of mullerian agenesis. The couple were counselled and the poor prognosis for fertility explained since they did not seem to have significant problem with intercourse. Gestational surrogacy is a viable treatment option for patients with Rokitansky syndrome and was offered to this patient, but couldn’t afford it due to the prohibitive cost of the procedure.