Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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A Case of Male Pseudohermaphroditism due to 17α-Hydroxylase Deficiency

17α-Hydroxylase 결핍에 인한 남성가성반음양 1례

  • Park, Keoung Ah (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Chung, Youn Kyung (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Lee, Jung Ryeol (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Choi, Young Min (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Lee, Gyoung Hoon (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Kim, Hee Seung (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Jee, Byung Chul (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Ku, Seung Yup (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Suh, Chang Suk (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Kim, Seok Hyun (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Kim, Jung Gu (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Moon, Shin Yong (Department of Obstetrics and Gynecology, Medical Research Center, Seoul National University College of Medicine) ;
  • Kim, Seong Yeon (Department of Internal Medicine, Seoul National University College of Medicine)
  • 박경아 (서울대학교 의과대학 산부인과학교실) ;
  • 정연경 (서울대학교 의과대학 산부인과학교실) ;
  • 이정렬 (서울대학교 의과대학 산부인과학교실) ;
  • 최영민 (서울대학교 의과대학 산부인과학교실) ;
  • 이경훈 (서울대학교 의과대학 산부인과학교실) ;
  • 김희승 (서울대학교 의과대학 산부인과학교실) ;
  • 지병철 (서울대학교 의과대학 산부인과학교실) ;
  • 구승엽 (서울대학교 의과대학 산부인과학교실) ;
  • 서창석 (서울대학교 의과대학 산부인과학교실) ;
  • 김석현 (서울대학교 의과대학 산부인과학교실) ;
  • 김정구 (서울대학교 의과대학 산부인과학교실) ;
  • 문신용 (서울대학교 의과대학 산부인과학교실) ;
  • 김성연 (서울대학교 의과대학 내과학교실)
  • Published : 2006.06.30
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Abstract

Female phenotype of a 46,XY male may originates from male pseudohermaphroditism due to $17{\alpha}$-hydroxylase deficiency. Lack of cortisol increases adrenocorticotropic hormone (ACTH) and mineralocorticoid production, leading to low renin hypertention and hypokalemia. A 41-year-old phenotypic female presented primary amenorrhea and hypertension. In the hormonal profile, the levels of serum estradiol, testosterone, rennin, and cortisol were decreased and ACTH and deoxycorticosterone were increased. Laparoscopic bilateral gonadectomy was performed, and corticosteroid, antihypertensive drugs, and estrogen were administered. We report this case with a brief review of the literatures.

46,XY 핵형인 남성에게서 $17{\alpha}$-hydroxylase의 결핍이 있을 경우 성호르몬의 생성장애로 인해 남성가성반음양에 의한 여성 표현형을 보이게 된다. 코티졸이 결핍되면 부신피질자극호르몬의 증가 및 이로 인한 광불무신피질호르몬의 합성이 증가되어 저레닌성 고혈압, 저칼륨혈증이 발생한다. 41세 된 여자 환자가 원발성 무월경과 고혈압을 주소로 내원하였다. 46,XY 핵형을 보였으며, 호르몬 검사상, 혈중 에스트라디올, 테스토스테론, 레닌, 코티졸이 감소되어 있으며 부신피질자극호르몬 및 deoxycorticosterone이 증가되어 있어 $17{\alpha}$-hydroxylase 결핍에 의한 남성가성반음양으로 진단되었다. 이 질환의 치료로 복강경을 이용한 양측 고환적출술을 시행하였고, 부신피질호르몬과 항고혈압 재제, 에스트로젠을 투여하였다. 본 연구에서는 위 증례에 대하여 간단한 문헌고찰과 함께 보고하는 바이다.

Keywords

Acknowledgement

Supported by : 보건복지부

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