Mayer-Rokitansky-Kuster-Hauser syndrome in a young female: diagnosis and treatment: a case report Authors Asfia Tariq Department of Family Medicine, The Indus Hospital, Karachi, Pakistan Nida Ilyas Shamsi Department of Family Medicine, The Indus Hospital, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.6355 Abstract Mayer-Rokitansky-Kuster-Hauser Syndrome is a rare condition in which Müllerian system does not develop and ends up with rudimentary upper vagina and the uterus. As compared to normal physiology of the ovaries and puberty, the patients present with primary amenorrhoea a key clinical symptom. However, the exact aetiology of the disease is still unknown. A few reports considered environmental and epigenetic changes, hormonal imbalance, and cellular receptor abnormalities as possible risk factors associated with the disease. This case was reported at the Department of Family Medicine, The Indus Hospital, Karachi. A 24-year-old woman, married for eight months, presented with primary amenorrhoea and painful intercourse. Upon detailed clinical evaluation and relevant radiological and diagnostic investigation, an assessment, of Mayer-Rokitansky syndrome was made. Keywords: Primary Amenorrhoea, Mullerian agenesis, Mayer-Rokitansky-Kuster- Hauser Syndrome. Downloads Full Text Article Published 2023-02-15 How to Cite Tariq, A., & Shamsi, N. I. (2023). Mayer-Rokitansky-Kuster-Hauser syndrome in a young female: diagnosis and treatment: a case report. Journal of the Pakistan Medical Association, 73(3), 697–699. https://doi.org/10.47391/JPMA.6355 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 73 No. 3 (2023): March Section CASE REPORT