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Case Reports
. 2016 Apr;29(2):e35-8.
doi: 10.1016/j.jpag.2015.10.019. Epub 2015 Oct 30.

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report

Agnieszka Białka  1 , Aneta Gawlik  2 , Agnieszka Drosdzol-Cop  3 , Krzysztof Wilk  1 , Ewa Małecka-Tendera  2 , Violetta Skrzypulec-Plinta  1
Affiliations
Case Reports

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report

Agnieszka Białka et al. J Pediatr Adolesc Gynecol. 2016 Apr.

Abstract

Background: Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis.

Case: A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH.

Summary and conclusion: Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.

Keywords: Gonadal dysgenesis; Mayer-Rokitansky-Küster-Hauser syndrome; Turner syndrome.

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