Abstract
INTRODUCTION: Primary amenorrhea is defined as the absence of menarche by age 13 without secondary sexual characteristics or by age 15 with them. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea after ovarian failure. This case highlights a 15-year-old female with MRKH syndrome type I presenting with chronic headaches. CASE PRESENTATION: A 15-year-old female presented with primary amenorrhea and chronic frontal headaches. She reported non-foul-smelling white per vaginal discharge but denied visual disturbances, limb weakness, or systemic symptoms. Examination revealed normal secondary sexual characteristics, a blind vaginal pouch (0.5 cm), and a low body mass index of 17. Pelvic ultrasonography and MRI confirmed uterine agenesis with normal ovaries and no renal anomalies, consistent with MRKH syndrome. Brain MRI and hormonal profiles were normal, suggesting her headaches were likely nutritional and dehydration related, which improved with dietary optimization. A multidisciplinary team performed McIndoe vaginoplasty using a split-thickness skin graft, successfully creating a 9-cm neovagina. On follow-up, the patient demonstrated good neovaginal patency, maintained regular self-dilatation, and reported improved psychological well-being. DISCUSSION: MRKH syndrome is a congenital disorder characterized by the absence or underdevelopment of the uterus and upper vagina despite normal external genitalia and a 46,XX karyotype. It affects approximately 1 in 5000 females. Diagnosis is confirmed through imaging, with MRI being the most reliable modality. Although headaches are not commonly associated with MRKH, in this patient, they were likely due to undernutrition, dehydration, and psychological stress. Management of MRKH includes both nonsurgical (vaginal dilation) and surgical approaches. The McIndoe procedure, involving a skin graft to create a neovagina, has shown high success rates in improving sexual function and psychological well-being. Postoperative outcomes highlight the importance of a multidisciplinary approach. CONCLUSION: This case highlights a rare presentation of MRKH syndrome with primary amenorrhea and headache in a young adolescent. Although headaches may mislead diagnosis, imaging is vital for confirmation and exclusion of other causes. The patient improved following McIndoe vaginoplasty, emphasizing timely diagnosis, multidisciplinary care, and psychological support for optimal outcomes.