Mayer-Rokitansky-Kuster-Hauser Syndrome, Type 2 presenting with end stage kidney disease: a rare occurrence

Abstract

Background: The association unilateral renal agenesis, renal malformation, kidney disease in residual kidney, uterine agenesis, vaginal atresia and skeletal malformations is a rare occurrence being reported in between 1 in 5000 to 1 in 20,000 live births. It is also known as Mayer-Rokitansky-Kuster- Hauser (MRKH) Syndrome and is as a result of Mullerian duct abnormalities. It is a rare case and is associated with anomalies of the urinary tract, ovaries, kidneys. cervix and vagina. While it has been recognized worldwide, it is rare and this is the first time it is being reported in this environment presenting this late with End Stage Kidney Disease necessitating hemodialysis.

Method: The patient's history, physical examination findings and investigations were carefully evaluated. A diagnosis of End stage kidney disease thought to be as a result of the repeated Urinary Tract Infections and hypertension was made. The patient was re-evaluated in detail and the diagnosis of MRKH syndrome was made.

Conclusion: There is need for clinicians to recognize the associations between primary amenorrhea, the presence of secondary sexual characteristics, recurrent Urinary Tract Infection, skeletal muscle abnormalities as a part of the MRKH syndrome. This is important so that close follow up will be dome early to prevent or delay the onset of end stage kidney failure, as well as to bring together a multi-specialist team to manage the medical, renal, psychological and gynecologic issues that are associated with the syndrome.