| 학회지 검색 | HOME > 논문 및 학회지 > 학회지 검색 |
대한생식의학회지 제26권 제3호 2010년
상염색체 우성으로 유전된 칼만증후군 1례
포천중문의과대학 산부인과학교실
남윤성, 이숙환, 이우식, 박찬, 김종욱, 차광열,
A Case of Kallmann Syndrome Inherited in Autosomal Dominant Mode
Nam ys, Lee sh, Lee ws, Park c, Kim jw, Cha ky
Pulsatile secretion of GnRH from the hypothalamus is a prerequisite for both the initiation and maintenance of the reproductive axis in humans. Failure of this episodic GnRH secretion results in the clinical syndrome of hypogonadotropic hypogonadism. Deficient GnRH secretion may occur in isolation(idiopathic hypogonadotropic hypogonadism : IHH), in association with anosmia(Kallmann’s syndrome), or as a result of a variety of structural and functional lesions of the hypothalamic – pituitary axis. GnRH deficiency may be inherited via autosomal dominant, autosomal recessive, and X – linked modes of inheritance, underscoring considerable genetic heterogeneity in this syndrome. Unique genetic mechanisms for both Kallmann syndrome and idiopathic hypogonadotropic hypogonadism have been described. However, some probands with Kallmann syndrome have family members with congenital hypogonadotropic hypogonadism but normal olfaction. This variable expressivity suggests that some individuals with isolated GnRH deficiency may line a single diagnostic spectrum of hypogonadism rather than represent discrete diagnostic subsets. We have experienced a case of Kallmann syndrome inherited via autosomal dominant mode with variable expressivity. So we report this case with a brief review of literatures.
키워드 : Kallmann syndrome, Autosomal dominant mode
교신저자 :
전문 파일 : 
