Abstract
Isolated hypogonadotropic hypogonadism(IHH) is characterized by low serum gonadotro-pins and hypogonadism with or without olfactory defects,and caused mainly by the genetic defects involving in the development and function of the CnRH-secreting neurons. Recently, a number of novel gene mutations including GnRH,GnRHR,GPR54,PROK2,PROKR2,TAC and TACR,are reported to result in dysfunction of hypothalamic-pituitary-gonadal axis as defects of GnRH synthesis,secretion and action. The identification of these genetic defects helps to illustrate the regulatory mechanism of GnRH secretion and to understand the pathogenesis of IHH. Key words: Isolated hypogonadotropic hypogonadism; Gene mutations; Impairment of sex development
Published Version
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