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Swyer Syndrome: A Case Report

Swyer 증후군: 증례 보고

  • 최형기 (창원파티마병원 영상의학과) ;
  • 박소훈 (창원파티마병원 영상의학과)
  • Received : 2023.03.16
  • Accepted : 2023.05.19
  • Published : 2023.09.01

Abstract

Swyer syndrome is a rare form of primary amenorrhea resulting from gonadal dysgenesis. It is characterized by the presence of a female phenotype with a 46, XY karyotype. In our case, CT scans revealed the absence of the uterus and bilateral ovaries of the 16-year-old female patient. Calcific nodules were found in both inguinal areas, which were suspected to be calcified atrophic testes. A chromosomal study confirmed the diagnosis of Swyer syndrome. Herein, we report a rare case of Swyer syndrome.

Swyer 증후군은 생식샘 발달에 영향을 미치는 희귀 유전질환으로 원발성 무월경의 드문 원인이다. 이 증후군은 46, XY 핵형을 가지나 표현형은 여성으로 나타나는 특징을 보인다. 이번 증례는 원발성 무월경을 주소로 내원한 16세 여성으로 컴퓨터단층촬영에서 자궁과 양측 난소가 관찰되지 않으며 양쪽 사타구니 부위에서 위축된 고환으로 보이는 석회화 결절이 관찰되었다. 염색체 연구에서 46, XY로 Swyer 증후군으로 확진되었다. 이에 저자들은 원발성 무월경의 드문 원인으로 Swyer 증후군을 보고하고자 한다.

Keywords

References

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