Mayer-Rokitansky-Küster-Hauser Syndrome: A Case of Primary Amenorrhoea and Diagnostic Approach

Zeba Saleem ¹, Abiha Ahmad Khan ¹*, Syeda Aamena Naaz ¹, Ahmad Hamdy Ibrahim ²

This case highlights Mayer-Rokitansky-Küster-Hauser syndrome as a rare but important cause of primary amenorrhoea, requiring timely diagnosis.

Abstract

Background: Amenorrhoea, defined as the absence of menstruation, can be classified into primary and secondary types. Primary amenorrhoea is diagnosed when menstruation has not occurred by age 15 or within three years of breast development. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare cause of primary amenorrhoea characterized by uterovaginal aplasia in women with a normal 46, XX karyotype and secondary sexual characteristics. This case report discusses a 15-year-old girl diagnosed with MRKH syndrome after a thorough diagnostic workup. Methods: A detailed diagnostic evaluation was conducted, including physical examination, imaging (ultrasonography and MRI), hormonal testing, and chromosomal analysis. The patient presented with primary amenorrhoea and no family history of related conditions. Ultrasound and MRI confirmed the absence of a uterus and non-visualization of the ovaries. Hormonal tests were within normal ranges, and chromosomal analysis revealed a 46, XX karyotype. Results: The diagnostic workup confirmed an atrophic uterus with small bilateral ovaries and no functional endometrial tissue. Mayer-Rokitansky-Küster-Hauser syndrome was diagnosed. The patient was counseled regarding surgical options, including neovaginoplasty, to create a functional vaginal canal for sexual intercourse. Conclusion: MRKH syndrome, though rare, is an important consideration in cases of primary amenorrhoea. Timely diagnosis through imaging and chromosomal analysis is crucial for appropriate management. Psychological counseling and surgical options such as neovaginoplasty can significantly improve the quality of life for affected individuals, particularly regarding sexual health and reproductive possibilities. Addressing the psychological burden associated with infertility is also critical to patient care.

Keywords: Mayer-Rokitansky-Küster-Hauser Syndrome, primary amenorrhoea, uterovaginal aplasia, neovaginoplasty, Müllerian dysgenesis

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