Mayer–Rokitansky–Küster–Hauser Syndrome with Gonadal Dysgenesis: Systematic Review of Literature with an Illustrative Case Description
Year: 2025
Type: review
Study design: Systematic Review
Abstract: Aims and background: Comprehensive descriptions of the each rare co-existence of "Mayer-Rokitansky-Küster-Hauser syndrome" (MRKHS) with gonadal dysgenesis (GD) are crucial for accurate diagnosis, effective management strategies, and further investigation into their potential etiologies, given their limited instances and varied presentations.We conducted this research to consolidate knowledge, identify gaps, inform clinical decision-making, guide research efforts, and improve patient care in these complex and rare conditions.Methods: A protocol following the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines was used for this systematic review, along with a tailored search strategy on PubMed.Studies reporting on MRKHS and GD were included, while non-English publications, animal studies, non-research articles, and studies unrelated to MRKHS and GD were excluded.Additional relevant studies were identified through manual citation searches from all articles.Results: Our extensive literature review includes 33 case reports, documenting the coexistence of MRKHS and GD in a total of 42 patients.The median age at presentation was 19 years, with most patients presenting in adulthood with complaints of primary amenorrhea and poorly developed secondary sexual characteristics.The case report describes the 22-year-old patient's symptoms and physical examination findings, confirming the coexistence of MRKHS and GD through karyotyping and imaging studies.The patient was managed with hormone replacement therapy with significant improvement.Conclusion: The article highlights the rarity of the coexistence of MRKHS and GD and explores possible explanations for this association, such as genetic mutations, endocrine disruptors, and environmental toxins.Clinical significance: This article underscores the importance for clinicians to be vigilant and consider the potential coexistence of MRKHS and GD in patients exhibiting related symptoms or anomalies.Early diagnosis and management are emphasized as critical for providing appropriate medical care and psychological support to affected individuals.
Institution: All India Institute of Medical Sciences
Language: English
Subfield: Obstetrics and Gynecology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W4413870246