A case of müllerian agenesis, Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome, in a 16 year-old female with primary amenorrhea is reported. This patient exhibited normal female external physical characteristics with a shallow, blind vaginal pouch upon examination. Serologic hormone evaluation as well as karyotype determination revealed normal pubertal female range hormones and 46, XX, respectively. MRKH Syndrome has a prevalence of 1 in 4000 to 10000 females. Treatment is multi-factorial and should include nonsurgical vaginal dilator therapy, surgical neovaginal options, as well as psychosocial support and counseling on future reproductive options.
Keywords: Primary amenorrhea; Müllerian agenesis; Mayer-Rokitansky-Küester-Hauser Syndrome; MRKH; Blind pouch
Published on: Sep 13, 2014 Pages: 30-32
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DOI: 10.17352/2455-5282.000010
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