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.
Authors
- Henrique Carmona Alexandrino (ORCID: https://orcid.org/0000-0001-7697-1231)
- Ana Amado
- Margarida Gonçalves
- Ana Cibele Pereira Sousa (ORCID: https://orcid.org/0000-0003-0312-8176)
- Marta Ferreira (ORCID: https://orcid.org/0000-0002-7065-809X)
Publication Details
- Journal
- Endocrinology Insights
- Published
- 2025-11-14
- DOI
- https://doi.org/10.1159/000549519
- Primary Topic
- Gynecological conditions and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00