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

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.

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Publication Details

Journal
Endocrinology Insights
Published
2025-11-14
DOI
https://doi.org/10.1159/000549519
Primary Topic
Gynecological conditions and treatments
Type
article
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article

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

Henrique Carmona Alexandrino, Ana Amado, Margarida Gonçalves, Ana Cibele Pereira Sousa et al.
Endocrinology Insights
Gynecological conditions and treatments
article

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

Henrique Carmona Alexandrino, Ana Amado, Margarida Gonçalves, Ana Cibele Pereira Sousa, Marta Ferreira
article en

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.

Endocrinology Insights
Openalex Percentile: Top 57%
Gynecological conditions and treatments
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Mayer-Rokitansky-Küster-Hauser Syndrome: An Atypical Presentation with Secondary Amenorrhea – A Case Report — Henrique Carmona Alexandrino, Ana Amado, et al. · Endocrinology Insights (2025) | TGRS Research Map | TGRS