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

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• 作者：Agnieszka Białka ; MD¹ ; Aneta Gawlik ; MD ; PhD² ; Agnieszka Drosdzol-Cop ; MD ; PhD¹ ; ^{cor111@poczta.onet.pl" class="auth_mail" title="E-mail the corresponding author} ; Krzysztof Wilk ; MD ; PhD¹ ; Ewa Małecka-Tendera ; MD ; PhD² ; Violetta Skrzypulec-Plinta ; MD ; PhD¹
• 关键词：Mayer-Rokitansky-Kü ; ster-Hauser syndrome ; Turner syndrome ; Gonadal dysgenesis
• 刊名：Journal of Pediatric and Adolescent Gynecology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：29
• 期：2
• 页码：e35-e38
• 全文大小：230 K

文摘

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.