Endocrine Abstracts

Introduction

Mayer-Rokitansky-Küster-Hauser (MRKH) type 2 or MURCS (Müllerian duct aplasia, unilateral renal agenesis and cervicothoracic somite anomalies) syndrome is a congenital disease with an incidence of 1 in 4000–5000 female live births, with unknown etiology. Several chromosomal abnormalities were associated with the disease, with a normal 46XX karyotype and familial members to share the same associated anomalies as sporadic cases have been reported. Associated malformations include unilateral renal agenesis (23–28%) and one- or both kidney ectopia (17%) and the incidence of abnormally located ovary is significantly increased in patients with MRKH syndrome.

Case report

A 16-year-old girl presented for renal ectopia detected on a pelvic ultrasonography. We found out she was having primary amenorrhea, with normal breast and pubic pilosity development over the past three years (BVPV Tanner stage) and positive family history of renal and cardiac congenital anomalies. The abdomino-pelvic MRI described uterine and upper two-thirds vaginal agenesis, right kidney agenesis, ectopic left kidney, ovaries with abnormal morfology and topography, tubular aspect and situated high in the abdominal cavity. The karyotype was 46 XX and she had normal ovarian function. A diagnosis of Mayer-Rokitansky-Kuster-Hauser Syndrome type 2 was made.

Discussions

Here we describe a case of a young lady who presented with a renal anomaly that was diagnosed as a case of type 2 MRKH syndrome. The absence of obvious signs and symptoms and the normal development of secondary sexual traits and normal external genitalia causes the syndrome to be diagnosed most often in adolescence, with primary amenorrhea as the first symptom. Considering the renal, skeletal, hearing or cardiac congenital anomalies associated and the increased levels of psychological distress, the multidisciplinary approach of these patient is very important.

Keywords

primary amenorrhea, renal agenesis, Müllerian duct aplasia, Mayer-Rokitansky-Küster-Hauser type 2 syndrome