Genetic Etiology of Idiopathic Hypogonadotropic Hypogonadism

Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental disorders characterized by low gonadotropin levels in the face sex steroid hormone concentrations. IHH practically divided into two major groups according to olfactory function: normal sense smell (normosmia) nIHH, and reduced (hyposmia/anosmia) Kallmann syndrome (KS). Although mutations more than 50 genes have been associated with so far, only half those cases were explained gene mutations. Various combinations deleterious variants different as causes increasingly recognized (Oligogenic etiology). In addition complexity inheritance patterns, spontaneous or steroid-induced clinical recovery from IHH, which seen approximately 10–20% cases, blurs further phenotype/genotype relationship poses challenging steps new discovery. Beyond helping for diagnostics, identification genetic pathophysiology hoped shed light on central governance hypothalamo-pituitary-gonadal axis through life stages. This review aims summarize etiology discuss physiological ramifications