Clinical aspects of Mayer–Rokitansky–Kuester–Hauser syndrome: recommendations for clinical diagnosis and staging

TLDR

MRKH syndrome is a congenital malformation of the female genital tract occurring in about 1 in 4,000 live births, caused by interrupted Müllerian duct development. The study aimed to assess the prevalence of associated malformations, subtype distribution, and to propose new diagnostic guidelines for MRKH. A retrospective analysis of 53 patients using a standardized questionnaire and clinical examinations classified them into typical, atypical, and MURCS subtypes. More than one third of patients had associated malformations, predominantly renal (23 types in 19 patients) and skeletal (18 types in 15 patients).

Abstract

The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one in 4000 female live births) as a result of interrupted embryonic development of the Müllerian (paramesonephric) ducts. This retrospective study examined the issue of associated malformations, subtyping, and the frequency distribution of subtypes in MRKH syndrome.Fifty-three MRKH patients were investigated using a newly developed standardized questionnaire. Together with the results of clinical and diagnostic examinations, the patients were classified into the three recognized subtypes [typical, atypical and MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia)].The typical form was diagnosed in 25 patients (47%), the atypical form in 11 patients (21%), and the most marked form-the MURCS type-in 17 patients (32%). Associated malformations were notably frequent among the patients. Malformations of the renal system were the most frequent type of accompanying malformation, with 23 different malformations in 19 patients, followed by 18 different skeletal changes in 15 patients.In accordance with the literature, this study shows that associated malformations are present in more than a third of cases. Therefore, new basic guidelines for standard diagnostic classification involving patients with suspected MRKH are presented.