Mayer-Rokitansky-Küster-Hauser Syndrome Associated With Diabetes Mellitus and Renal Anomalies in an Adolescent Girl: A Rare Case Report

TL;DR

A rare case report describes an adolescent girl with Mayer-Rokitansky-Küster-Hauser syndrome, diabetes, and kidney issues, highlighting the need for comprehensive care.

Contribution

This case expands the known phenotypic spectrum of MRKH syndrome to include diabetes mellitus and renal anomalies.

Findings

The patient exhibited MRKH syndrome along with diabetes mellitus and urinary tract anomalies.

The case suggests a potential overlap syndrome involving Müllerian duct aplasia, renal dysplasia, and endocrine dysfunction.

Comprehensive evaluation is crucial for managing MRKH syndrome with extragenital and metabolic complications.

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly characterized by agenesis or hypoplasia of the uterus and upper vagina in phenotypically normal females. Although patients with MRKH syndrome typically exhibit normal secondary sexual development, associations with extragenital anomalies and metabolic conditions such as diabetes mellitus have been increasingly reported.

A female patient initially presented at the age of 15 (currently 19 year old) with primary amenorrhea and absence of secondary sexual characteristics. Initial laboratory evaluation showed elevated follicle-stimulating hormone (FSH) and thyroid-stimulating hormone (TSH) levels, while thyroid antibodies and prolactin were within normal limits. Pelvic magnetic resonance imaging revealed poorly visualized ovaries, a hypoplastic or absent uterus and upper vagina, and urinary tract anomalies including a duplicated right ureter. One year later, she developed symptoms suggestive of diabetes mellitus and was found to have elevated random and fasting blood glucose levels. Her mother had been diagnosed with type 2 diabetes mellitus prior to conception. The patient was referred to endocrinology to evaluate the possibility of monogenic diabetes. The constellation of uterovaginal aplasia, renal anomalies, and endocrine dysfunction raises clinical suspicion of an expanded phenotypic spectrum or a potential overlap syndrome, such as Müllerian duct aplasia, renal dysplasia, and cervicothoracic somite anomalies (Reference ranges: FSH: 3-10 mIU/mL in follicular phase; TSH: 0.4-4.0 μIU/mL).

This case highlights the importance of comprehensive systemic evaluation in patients with MRKH syndrome, especially when extragenital anomalies or metabolic abnormalities such as diabetes mellitus coexist. Early recognition and multidisciplinary management are essential for optimal care and may provide valuable insights into potentially shared developmental and genetic pathways.

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