J Endocrinol Invest 2017 Aug 1;40(8):789-802. Epub 2017 Mar 1.
Division of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, Medical School, "Aghia Sofia" Children's Hospital, Athens, Greece.
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved in the abnormal hypothalamic-pituitary-gonadal (HPG) axis development, in the normosmic idiopathic hypogonadotropic hypogonadism (nIHH), in the X-linked or autosomal forms of Kallmann syndrome and in precocious puberty have been identified (GNRH1, GNRHR, KISS1, GPR54, FGFR1, FGF8, PROK2, PROKR2, TAC3, TACR3, KAL1, PROK2, PROKR2, CHD7, LEP, LEPR, PC1, DAX1, SF-1, HESX-1, LHX3, PROP-1). Read More