Mayer Rokitansky Kuster Houser syndrome: Psychosocial and Fertility Aspect

Abstract Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is congenital disorder that affects the female reproductive system. MRKH syndrome is characterized by congenital aplasia of the uterus or utero-vaginal agenesis with normal ovaries and normal breast development. In MRKH syndrome females, the chromosome number is normal (46, XX). The MRKH patients suffer with primary amenorrhoea, sexual problems, and infertility along with depression. It is inherited in an autosomal dominant pattern with an incomplete degree of penetrance and variable expressivity in the patients in the family. The females patients also have to suffer psychosocial problems and mental trauma. The prevalence of MRKH syndrome is about 1 per 4500 female live births. MRKH syndrome can be either isolated (MRKH type I) or syndromic form (MRKH type II or MURCS association) which is associated withrenal, vertebral, and to a lesser extent with auditory and cardiac defects. MRKH type II or MURCS association is characterized by Müllerian duct aplasia, renal dysplasia, and cervical somite anomalies in the female patients. Material and Methods: In our study, a total of 50 patients having MRKH syndrome were enrolled for clinical investigation. The detailed clinical history of the patients were observed and diagnosed the patients by evaluating the reports of USG, MRI, and other tests including biochemical tests. The all associated abnormalities of vital organs including kidney, liver, heart, and other associated organs were recorded for each patient. Chromosomal abnormalities like aneuploidy, breakage, and translocation were ruled out by karyotyping. In the females patients, levels of hormones like luteinizing hormone (LH), follicle-stimulating hormone (FSH), Tri-iodothyronine (T3), Thyroxine (T4), and thyroid stimulating hormone (TSH) were estimated from serum or plasma. All the detailed information and history required for fertility aspects were interrogated to patients and documented their future plans related to fertility. Results: In this study, we enrolled a total of 50 MRKH female patients and studied their problems of psychosocial, sex, and infertility. Most of the cases (52%) of MRKH syndrome were diagnosed between the age of 18 to 22 years, while the age group of 14-18 years and 22-28 years were distributed with 20% and 28%, respectively. Prevalence of MRKH syndrome is higher 64% (32 cases) in rural location as compared to urban location 36% (18 patients). MRKH syndrome were diagnosed after marriage in 70% patients. The reason could be either hiding the clinical manifestations and symptoms that included the overlapping features of amenorrhoea (40 patients), infertility (30 patients), and sexual problems (35 patients). Out of 50 females, 30 patients were underwent surgery for McIndoe-Vaginoplasty. MRKH syndrome patients were counselled that resulted adoption of child in 5 couples (cases) and surrogacy in one case. In our study, 20 females were got married with a widower person who already have children.We also focused on the diagnosis the abnormalities in associated organs including renal, cardiac, skeletal, and auditory in female patients suffering with MRKH syndrome. Conclusion : MRKH syndrome is a rare syndrome in females but causes many psychosocial and fertility problems in patients. The counselling plays an important role in females suffering with MRKH syndrome.