A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH syndrome) and Literature Review

Introduction: Atypical Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by agenesis or aplasia of the uterus and upper part of the vagina in a female with a normal female karyotype (46, XX) with associated extra-genital anomalies such as renal, skeletal, auditory and cardiac malformations. Sporadic cases are common but there is growing evidence of familial cases. We report two cases of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in siblings from the same family, with their father exhibiting unilateral renal hypoplasia.
Case Description: A 19-year-old female presented with the complaint of primary amenorrhea. She had undergone patent ductus arteriosus device closure at the age of 6 years. There were no features of hyperandrogenism. Her family history revealed that her father had left renal hypoplasia. On examination she had short stature and scoliosis. She had tanner 5 breast development and pubic hair distribution. She had normal female karyotyping (46 XX) and hormonal profile was within normal range with no abnormalities. Her MRI abdomen and pelvis showed an absent uterus and upper ⅔ of the vagina, single pelvic kidney with normal ovaries. Her younger sister who was 16 years old was also investigated for primary amenorrhea. She was also short and had Tanner stage 5 breast development  and normal pubic  hair distribution. Her hormonal profile was normal, but  pelvic ultrasound revealed bilateral pelvic kidneys, an absent uterus, and bilateral ovaries located in the left and right iliac fossae, suggesting the possibility of MRKH in the sibling as well.
Discussion & conclusion: MRKH syndrome is the second commonest cause for primary amenorrhea where the aetiology remains controversial. Majority of the cases are sporadic but there is emerging evidence of familial cases of MRKH suggesting a genetic etiology. During the last decade, there has been advancement in the genetic studies related to MRKH syndrome. Understanding the genetics related to MRKH syndrome is of great importance to provide genetic counselling in the clinical setting.