Mayer-Rokitansky-K'ster-Hauser Syndrome ? A Case Report of Genetics and MR Imaging Findings with Short Literature Review

Savina Hadjidekova, George Hadjidekov

Abstract: The authors describe the clinical and genetic presentation in case of a young female patient with primary amenorrhea and normal development of secondary sexual characteristics, normal external genitalia and functional ovaries. Normal karyotype 46, XX without visible chromosomal anomaly has been observed. MR imaging was confirmatory to the diagnosis of Mayer-Rokitansky-Kuster-Hausers type 1 (isolated) syndrome (MRKH).

Keywords: Mayer-Rokitansky-Kster-Hauser Syndrome, Genetics, MRI