MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea

Abstract

Mayer-Rokitansky-Haüser-Kuster (MRHK) or Mullerian agenesis syndrome is characterized by aplasia or hypoplasia of uterus and upper 2/3 of the vagina. Patients usually have normal gonadal function as both ovaries develop from different embryonic sources. Due to functioning gonads, despite being present with primary amenorrhoea, patients develop secondary sexual characteristics. Turner syndrome is a disorder characterized by the absence of all or part of a normal second sex chromosome, sometimes with mosaicism of 45X with another cell line. Patients are phenotypically female present with short stature, often absent secondary sexual characteristics due to gonadal dysgenesis. Co-existence of both syndromes is very rare. We describe here a 16-year old girl present with primary amenorrhoea, absenting secondary sexual characteristics and short stature.

Keywords

• müllerian agenesis, gonadal dysgenesis, primary amenorrhoea, secondary sexual characteristics