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Mayer-Rokitansky-Küster-Hauser Syndrome: An Atypical Presentation with Secondary Amenorrhea – A Case Report

Year: 2025

Type: article

Abstract: Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital malformation of the Müllerian ducts that results in aplasia or severe hypoplasia of the upper vagina, uterus, and fallopian tubes. The typical clinical presentation is primary amenorrhea in females with normal secondary sexual characteristics and a normal female karyotype. Case Presentation: We report the case of a 19-year-old female who presented with secondary amenorrhea and whose magnetic resonance imaging showed MRKH syndrome. She had associated ovarian dysgenesis, leading to hypergonadotropic hypogonadism. Although the patient reported menarche, it is arguable if it actually occurred. Conclusion: This case highlights an unusual presentation of MRKH syndrome with reported secondary amenorrhea and ovarian dysgenesis, contributing to the existing body of knowledge.

Source: Endocrinology Insights

DOI: 10.1159/000549519

Authors: Margarida Gonçalves, Ana Amado, Henrique Carmona Alexandrino, Ana Margarida Sá Sousa, Marta Almeida Ferreira

Language: English

Topic: Gynecological conditions and treatments

Subfield: Obstetrics and Gynecology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4416225023

FWCI:

Cites: 13

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