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

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.

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.

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.

Our case exemplifies the delayed presentation of MRKH syndrome. The absence of menstruation being non-life-threatening 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.