Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
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A Case of Kallmann Syndrome Inherited in Autosomal Dominant Mode

상염색체 우성으로 유전된 칼만 증후군 1례

  • Nam, Yoon-Sung (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Lee, Sook-Hwan (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Lee, Woo-Sik (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Park, Chan (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Kim, Jong-Wook (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University) ;
  • Cha, Kwang-Yul (Department of Obstetrics and Gynecology, College of Medicine, Pocheon CHA University)
  • 남윤성 (포천중문의과대학 산부인과학교실) ;
  • 이숙환 (포천중문의과대학 산부인과학교실) ;
  • 이우식 (포천중문의과대학 산부인과학교실) ;
  • 박찬 (포천중문의과대학 산부인과학교실) ;
  • 김종욱 (포천중문의과대학 산부인과학교실) ;
  • 차광열 (포천중문의과대학 산부인과학교실)
  • Published : 1999.09.30
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Abstract

Objective: To report the pedigree of Kallmann syndrome inherited in autosomal dominant mode with variable expressivity. Material and Method: Case report. Results: The patient had amenorrhea and anosmia but did not have a sign of absolute hypo gonadotropic hypogonadism. Her father had an anosmia and her two elderly sisters also had an anosmia but delivered babies uneventfully. Her two male siblings did not show any signs of hypogonadotropic hypogonadism. Conclusion: Kallmann syndrome has many different modes of inheritance such as autosomal dominant, autosomal recessive, and X-linked form. So the careful investigation of family pedigree is required.

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