Idiopathic hypogonadotropic hypogonadism (IHH) is often defined when a girl or a boy reaches the age 13 and 14 respectively, with a bone age of at least 11, who lack secondary sexual characteristics in the presence of low serum sex steroids as well as low gonadotropins. In an individual with pubertal delay, to establish a diagnosis of IHH frequently requires a battery of tests and a long follow-up period. Increasingly popular use of whole exome sequencing made extremely important contributions in making timely diagnosis of IHH and understanding the human reproductive biology.
Keywords: Idiopathic hypogonadotropic hypogonadism, clinical and genetics approach