Murcs Association: A most severe form of Mayer-Rokitansky-Küster-Hauser Syndrome, case report and literature review

Abstract

BACKGROUND Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital abnormality of sexual development characterized by an aplastic or hypoplastic uterus, as well as the absence of the cervix and the upper third of the vagina. It may be limited to the reproductive tract (MRKH type 1), or in association with abnormalities of the extragenital tract, usually of renal and skeletal origin (MRKH type 2). The presence of a pattern of multiple anomalies has been described, specifically characterized by aplasia of the Müller ducts (MU), renal aplasia (R), and alterations of the cervicothoracic somite (CS), which has been called the MURCS association. METHODOLOGY A search was performed in the Medline database via PubMed using the following terms: “Mayer–Rokitansky–Küster–Hauser Syndrome”, “Mullerian anomalies”, “genetics of agenesis/hypoplasia of the uterus and vagina”, “uterine cervical aplasia and agenesis”, from 1979 to 2023, a total of 316 studies were found, 58 studies were selected that included women with a diagnosis of MRKH or MURCS association. CASE REPORT A 34-year-old woman attends a gynecologist evaluation presenting primary amenorrhea, with external genitalia with normal development, but has multiple spinal abnormalities. The image reports the absence of the uterus and the superior two-thirds of the vagina, renal aplasia, scoliosis, and cervical, thoracic, and lumbar spinal abnormalities. CONCLUSIONS Mullerian abnormalities are a set of abnormalities of sexual development in which the development of the uterus, fallopian tubes, and vagina are mainly affected. Within this group, there is MRKH syndrome. In these variants of GREB1L (estrogen growth regulation gene in breast cancer type 1 gene), variants have been reported in familiar cases of bilateral renal agenesis. Establishing the cause of these clinical entities is controversial, making it difficult to deny or affirm whether the atypical forms of the MRKH syndrome and the MURCS association belong to the same phenotypic spectrum originating from common or related causes or simply different entities.