ISOLATED MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE.

Introduction: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital disorder of unknown etiology, characterized by mullerian agenesis and can be associated with renal, skeletal and cardiac malformation. Most cases are sporadic.

Case Report: We report a typical case of MRKH syndrome of a 16 year old female with normal renal system.

Discussion: The diagnostic workup of patient presenting with primary amenorrhea should include history taking, physical examination, hormonal evaluation, imaging and chromosomal analysis. Normal levels of LH (Leutinizing Hormone) and FSH (follicle stimulating hormone) indicate appropriate ovarian function. On the other hand, imaging techniques such as USG and MRI highlight the exact anatomical defects.

Conclusion: Absence of normal menstruation in young normal looking adolescent female should raise suspicion towards Mayer-Rokitansky-Kuster-Hauser Syndrome. Proper counseling of the patient regarding her future fertility and available therapies (surgical and non-surgical) should be explained. While MRKH syndrome is not a life-threatening disease, the diagnosis in adolescence has a significant influence on a patient’s life. Hence, counseling and proper supportive care are the mainstay for the management.

Key Words: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, Mullerian agenesis, Neovagina, aplasia of the uterus, Primary amenorrhea.