Interpretation of Mayer-Rokitansky-Küster-Hauser syndrome by systematic literature review

Abstract

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a rare congenital anomaly affecting the female genital tract, characterized by the absence of the uterus, cervix and upper vagina in women with normal appearance, karyotype 46 XX and normal endocrine function. The aim of the study was to interpret the main risk factors, clinical criteria and diagnosis of MRKH syndrome and its psychosocial impact through a literature review. A descriptive documentary literature review was conducted, analyzing articles published between 2019 and 2023 in high-impact journals. Sixteen articles were identified, including case studies and theoretical sources of information. The syndrome was found to affect approximately 1 in 4 000 to 5 000 women, with possible genetic basis. Two types are distinguished: type I, with absence of the uterus and vagina, and type II, with additional kidney and skeletal malformations. Diagnosis is made by ultrasound and MRI, and treatment includes the creation of a neovagina through surgical or non-surgical procedures. The syndrome carries a significant emotional and psychological burden due to infertility and sexual difficulties. It was concluded that MRKH involves risk factors such as family history, primary amenorrhea and normal development, requiring a multidisciplinary approach and including treatment options. In Ecuador, the lack of protocols and awareness presents challenges for those affected. It is vital to raise awareness of this condition and support research to improve the quality of life of those affected