Mayer-Rokitansky-Kuster-Hauser Syndrome: A rare case report from Nepal

INTRODUCTION: Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) is a rare congenital disorder with an incidence of 1 in 5000 females. It is characterized by uterovaginal aplasia with normal secondary sexual characteristics and genetic karyotype 46XX. The exact etiology of MRKH syndrome is not known. CASE PRESENTATION: We report a case of type 2 MRKHS with agenesis of left kidney. DISCUSSION: The diagnosis of MRKH mainly depends on imaging study. Transabdominal ultrasonography is the first line investigation but abdomino-pelvic MRI gives more precise and clear information than the prior. So, we suggested our patient to do MRI even though she had done ultrasonography earlier. The differential diagnosis includes congenital vaginal agenesis, low transverse vaginal septum, androgen insensitivity, and imperforate hymen. CONCLUSION: This case presents that MRKH syndrome can occur with normal endocrine function and secondary sexual characteristics. Surgical correction by creating a neovagina is a good treatment method in young females for sexual intercourse.