Mayer-Rokitansky-Küster-Hauser syndrome presenting with short stature and gonadal Dysgenesis

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly of female genital tract where there is hypoplasia of uterus and upper two- thirds of vagina. Patients with MRHK syndrome present with normal development of secondary sexual characteristics due to normal ovarian function. We report 2 cases of MRHK syndrome who presented with absent secondary sexual characteristics due to absent ovaries confirmed on imaging. Both our cases with MRKH had short stature with underdeveloped secondary sexual characteristics. It is extremely rare for gonadal dysgenesis and Mullerian tract abnormalities to coexist.