Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.

摘要: The Mayer-Rokitansky-Kuster-Hauser syndrome, MRKHS, is a rare (orphan) disease characterized by the aplasia or hypoplasia of uterus and vagina. In women's health research, little known as to how much care provision for patients with MRKHS takes into account their socio-demographic together clinical characteristics. This work examines patients’ characteristics, highlighting issues inappropriate deficient care. study was carried out part larger TransCareO project included group N=129 who underwent surgery between 2008 2012. Using specially developed questionnaire, we analyzed data found both in documentation Department Women's Health, University Hospital Tubingen patient surveys Center Rare Genital Malformations (CRGM/ ZSGF). Patients took interviews were compared non-respondents. Patient respondents non-respondents did not differ parameters interest. most cases, primary amenorrhea reported an admission reason. 24% patients, medical intervention (hymenal incision hormone treatment) already occurred before proper diagnosis MRKHS. About one third received advance treatment. During therapy, more than half solid partnership. 10% family anamneses documented occurrence urogenital malformations. Care largely delayed part, treatment attempts; there are also indications regional differences. Anamnestic clues such asymptomatic renal abnormalities unclear origin still fail result early enough referral center on basis suspected diagnosis. Urogenital malformations common general population. For wide range burdens associated Abnormalities female peers occur, instance, partnership status: have rarely partner.