Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome

Area of Science:

• Reproductive Medicine
• Urology
• Pediatric Endocrinology

Background:

• Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by the underdevelopment or absence of the uterus and vagina.
• It typically presents as primary amenorrhea in adolescent females.
• MRKH syndrome is classified into two types: Type 1 (isolated genital tract anomalies) and Type 2 (associated with other system abnormalities).

Observation:

• A case of a 21-year-old woman with MRKH syndrome presenting with primary amenorrhea and a history of neovagina formation is described.
• The patient subsequently presented with abdominal pain and oligoanuria.
• Imaging revealed a solitary pelvic kidney with ureteropelvic junction stenosis and hydronephrosis.

Findings:

• The patient underwent successful desobstruction with a DJ stent followed by pyeloplasty for the ureteropelvic junction stenosis.
• This case highlights a rare association of MRKH syndrome with complex upper urinary tract malformations.
• Delayed diagnosis of MRKH syndrome can lead to missed opportunities for identifying and managing concurrent anomalies.

Implications:

• Comprehensive urological evaluation is essential in all patients diagnosed with MRKH syndrome to detect potential congenital urinary tract abnormalities.
• Early identification and management of renal anomalies can prevent long-term complications such as chronic kidney disease.
• This case underscores the importance of a multidisciplinary approach in managing patients with complex congenital disorders.