Delayed presentation of Type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a low-income setting - a case report

Sep 29, 2026

Uploaded by jayni

Delayed presentation of Type I Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is described in a 27-year-old newly married woman from a low-income setting. Despite normal secondary sexual characteristics and a normal karyotype expectation, she reported primary amenorrhea and painful penetrative intercourse, with pelvic findings of a small, narrow, blind-ended vagina. Magnetic resonance imaging confirmed absence of the uterus and cervix and associated genital tract abnormalities, guiding diagnosis. Management combined serial vaginal dilation and psychosocial counseling, emphasizing the need for proactive evaluation in resource-limited contexts.

LanguageEnglish

CategoryHealthcare

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Introduction and importance

Case presentation

Clinical discussion

Conclusion

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Case Report Delayed presentation of Type I Mayer–Rokitansky– Küster–Hauser (MRKH) syndrome in a low-income setting: a case report Abhigya Parajuli, MBBSa ,*, Deepak Raj Upadhyaya , Prabin Regmi, MBBSb , Rupak Ranjan Prasad Koirala, MBBSb , Bipin Poudel, MBBSc , Chandika Pandit, MDd Introduction and importance: Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare female congenital disorder characterized by uterovaginal aplasia with normal genotype, phenotype, and karyotype. Patients typically present with primary amenorrhea despite normal secondary sexual characteristics and external genitalia. Case Presentation: A 27-year-old, illiterate, newly married female, yet to attend menarche, presented with a complaint of painful penetrative intercourse. Physical examination showed well-developed secondary sexual characteristics. Pelvic examination disclosed a small, narrow, and blind ended vagina. Magnetic resonance imaging revealed the absence of the uterus, cervix, and normal anatomical contour of the renal system, which led to the diagnosis. Considering her low socioeconomic background and individual needs, she is currently receiving psychosocial counseling in addition to serial vaginal dilation as a first-line treatment. Clinical Discussion: MRKH syndrome is the second most common cause of primary amenorrhea because of Müllerian dysgenesis. Clinical presentation and laboratory results, corroborated with imaging findings, led to the diagnosis. Besides anatomical correction, psychosexual counseling plays a pivotal role in the success of the treatment. Functional vaginal creation is the standard of care. Conclusion: Our case exemplifies the delayed presentation of MRKH syndrome. The absence of menstruation being non-lifethreatening is not perceived as a medical concern in low-income settings. Thus, no attention was paid by the family members to our patient’s presenting complaints. Therefore, this case strongly reminds healthcare providers in similar settings to proactively investigate for primary amenorrhea, even in the absence of other complaints, to prevent such profound delays in presentation. Keywords: case report, delayed presentation, low-income setting, Müllerian duct, primary amenorrhea Introduction Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome or Müllerian dysgenesis is a rare female congenital disorder characterized by the absence of the uterus and upper part of vagina despite normal development of secondary sexual characteristics anda normal karyotype (46, XX), with the estimated incidence of 1 in 5000 females[1]. It belongs to the most severe uterine malformation class I-II according to American Society for Reproductive aSchool of Medicine, Gandaki Medical College Teaching Hospital, Pokhara, Nepal, bMedical Officer, Fewa City Hospital and Research Centre, Pokhara, Nepal, cMedical Officer, Patan Academy of Health Sciences, Lalitpur, Nepal and dDepartment of Obstetrics and Gynaecology, Gandaki Medical College Teaching Hospital, Pokhara, Nepal Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article. *Corresponding author. Address: School of Medicine, Gandaki Medical College Teaching Hospital, Pokhara 33700, Gandaki Province, Nepal. Tel.: +9779846046127. [E-mail: abhigyaparajuli1@gmail.com](E-mail: abhigyaparajuli1@gmail.com) (A. Parajuli). Copyright © 2025 The Author(s). Published by Wolters Kluwer Health, Inc. This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. Annals of Medicine & Surgery (2026) 88:881–885 Received 12 August 2025; Accepted 18 November 2025 Published online 3 December 2025 [http://dx.doi.org/10.1097/MS9.0000000000004472](http://dx.doi.org/10

FAQs

What key symptoms suggested MRKH syndrome in this case?

The patient had primary amenorrhea and painful intercourse. Pelvic examination showed a small, narrow, blind-ended vagina despite well-developed secondary sexual characteristics.

How was the diagnosis confirmed?

Magnetic resonance imaging showed absence of the uterus and cervix and an abnormal uterovaginal anatomy, supporting the diagnosis of Type I MRKH syndrome.

Why was the presentation delayed and what does the case emphasize?

In low-income settings, absence of menstruation was not perceived as a medical concern, so family members did not prioritize investigation. The case highlights the need for healthcare providers to proactively assess primary amenorrhea to prevent long delays.

Sep 29, 2026

Uploaded by jayni