Mayer-Rokitansky-Küster-Hauser syndrome type II. Case report

Mayer-Rokitansky-Küster-Hauser syndrome is a rare congenital disorder characterized by Müllerian agenesis while preserving secondary sexual characteristics and a normal 46XX karyotype. It is classified into two types, with type II involving additional multisystemic anomalies affecting the skeletal, renal, and cardiovascular systems. Due to its rarity, epidemiological data on prevalence and incidence are lacking, and no cases have been previously reported in our country. We present the case of a 48-year-old female patient diagnosed with Mayer-Rokitansky-Küster-Hauser syndrome type II at the age of 17. Her medical history includes atrial septal defect, agenesis of the uterus and two-thirds of the vaginal canal, amorphous ovarian tissue, renal ectopia and fusion in the pelvis, supernumerary rib, dorsal scoliosis, fused vertebrae, butterfly vertebra, and annular pancreas. Despite these internal anomalies, her external genitalia are normal, and secondary sexual characteristics are preserved. In 2002, she underwent a McIndoe vaginoplasty to create a functional vaginal canal. This case highlights the complex etiology of MRKH type II syndrome, involving genetic and epigenetic factors, particularly HOX and WNT genes. Diagnosis was confirmed through computed tomography, revealing characteristic anomalies. Treatment included surgical intervention with vaginoplasty and progressive dilation, leading to satisfactory anatomical function and improved body perception. Additionally, cognitive-behavioral therapy played a crucial role in reinforcing the patient's identity and self-esteem.