MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME II, A RARE CASE REPORT FROM PESHAWAR, PAKISTAN

Abstract

Abstract

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. The diagnosis of MRKH mainly depends on imaging studies. Transabdominal ultrasonography is the first line of investigation but abdominopelvic MRI gives more precise and clear information than the prior. The MRI even had been done before but the Ultrasound previously done was not conclusive so I repeated the ultrasound which showed abnormality in the uterus and kidneys. The differential diagnosis included congenital vaginal agenesis, low transverse vaginal septum, androgen insensitivity, and imperforate hymen. This case presents that MRKH syndrome II can occur with normal endocrine function and secondary sexual characteristics. Surgical correction by creating a neovagina is a good treatment method for young females for sexual intercourse in the future.

Keywords: MRKHSII, Ectopic Kidney, Mayer-Rokitansky-Kuster-Hauser syndrome