Genetic Aspects of Idiopathic Hypogonadotropic Hypogonadism / 대한소아내분비학회지

ABSTRACT

Idiopathic hypogonadotropic hypogonadism (IHH) is defined by delayed or absent sexual development associated with inappropriately low gonadal sexual hormone and gonadotropin levels in the absence of anatomical or functional abnormalities of the hypothalamic-pituitary-gonadal axis. IHH has been divided into those associated with anosmia/hyposomia, known as Kallmann syndrome and those occurring in normosmic IHH. Recently, mutations in a number of genes associated with IHH have been identified, including: GNRH1, GNRHR, KISS1R, TAC3, TACR3, KAL1, FGF8, FGFR1, PROK2, PROKR2, and CHD7. These genes encode proteins which are involved in the regulation of gonadotropin releasing hormone (GnRH) neuronal development, migration of GnRH neurons, GnRH secretion or GnRH action. This review discusses the human genetic mutations associated with IHH and their molecular mechanism.