Table.
Genes involved in the control of GnRH
| Locus | Protein | Inheritance | Phenotype | References | |
|---|---|---|---|---|---|
|
Stimulation of GnRH synthesis or secretion
| |||||
| GNRHR | 4q13.2 | GnRH receptor | Autosomal recessive | Isolated hypogonadotropic hypogonadism | 35, 46 |
| KISS3 | 1q32.1 | Kisspeptin | Autosomal recessive | Isolated hypogonadotropic hypogonadism and central precocious puberty | 47, 48 |
| KISS3R | 19p13.2 | Kisspeptin receptor | Autosomal recessive | Isolated hypogonadotropic hypogonadism and central precocious puberty | 42, 43, 49 |
| TAC3 | 12q13.3 | Neurokinin B | Autosomal recessive | Isolated hypogonadotropic hypogonadism | 44 |
| TACR3 | 4q24 | Neurokinin B receptor | Autosomal recessive | Isolated hypogonadotropic hypogonadism | 44 |
| GNRH3 | 8p21.2 | GnRH | Autosomal recessive | Isolated hypogonadotropic hypogonadism | 50, 51 |
|
| |||||
|
Inhibition of GnRH synthesis or secretion
| |||||
| MKRN3 | 15q11–13 | Makorin ring finger protein 3 | Paternally inherited | Central precocious puberty | 52 |
|
| |||||
|
GnRH migration
| |||||
| KAL3 | Xp22.31 | Anosmin-1 | X-linked | Kallmann’s syndrome | 35, 46 |
| FGFR3 | 8p11.2 | Fibroblast growth factor receptor 1 | Autosomal dominant | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| FGF3 | 10q24.32 | Fibroblast growth factor 8 | Autosomal dominant | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| PROK3 | 3p13 | Prokineticin 2 | Autosomal recessive | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| PROKR3 | 20p12.3 | Prokineticin receptor 2 | Autosomal recessive | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| CHD3 | 8p12.1 | Chromodomain helicase DNA binding protein 7 | Autosomal recessive | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| SEMA3A | 7q12.1 | Semaphorin-3A | Autosomal dominant | Kallmann’s syndrome | 35, 46 |
| WDR33 | 10q26.12 | WD repeat-containing protein 11 | Autosomal recessive | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| HS3ST3 | 2q.21 | Heparan sulphate 6-O-sulphotransferase 1 | Autosomal dominant | Kallmann’s syndrome or isolated hypogonadotropic hypogonadism | 35, 46 |
| FGF33, IL33RD, DUSP3, | ·· | Genes encoding components of | Autosomal dominant | Kallmann’s syndrome or isolated hypogonadotropic | 53 |
| SPRY3, and FLRT3 | fibroblast growth factor pathway | hypogonadism | |||
GnRH=gonadotropin-releasing hormone.