특발성 성조숙증 여아에서 진단된 Mayer-Rokitansky-Küster-Hauser (MRKH) 증후군 1례
Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in a Child with Idiopathic Precocious Puberty
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초록
본 증례는 특발성 진성 성조숙증이 있었던 여아에서 MRKH 증후군이 진단된 경우이다. 진성 성조숙증으로 GnRHa 치료 중단 후에도 초경의 발생 여부를 예의주시해야 하며, 신체검진과 골 연령 검사에서 시기적으로 초경이 예상됨에도불구하고 장기간 일차성 무월경이 지속될 경우 MRKH 증후군 가능성을 고려해 봐야 한다. 또한, 최근 사회의 발달에따른 서구화된 생활 양식으로 인해 성조숙증 환아가 급증하고 있는 추세이고, 이에 따라 본 환아와 같이 MRKH 증후군이 발견되는 경우가 증가할 것으로 예상되어 증례를 보고하였고, 문헌 고찰을 통해 MRKH 증후군에 대해 소개하였다.
Abstract
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by the congenital absence or hypoplasia of the uterus and the upper two thirds of the vagina due to müllerian duct malformation during embryogenesis. MRKH syndrome usually presents as primary amenorrhea in adolescence in females showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. For this reason, MRKH syndrome usually remains undiagnosed until primary amenorrhea or difficulty in sexual intercourse occurs. In this study, a case of MRKH syndrome diagnosed in a child with idiopathic precocious puberty is reported.
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