Hypogonadotrophic hypogonadism
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Can be caused by defects in:
- Gonadotropin-releasing hormone receptor coded by the GNRHR gene
- Progonadoliberin-1 (cleaved to gonadotropin-releasing hormone) coded by the GNRH1 gene
- KiSS-1 receptor coded by the KISS1R gene.
- Nasal embryonic luteinizing hormone-releasing hormone factor coded by the NLEF gene
- Basic fibroblast growth factor receptor 1 coded by the FGFR1 gene
- Prokineticin-2 coded by the PROK2 gene
- Chromodomain-helicase-DNA-binding protein 7 coded by the CHD7 gene
- Fibroblast growth factor 8 coded by the FGF8 gene
- Tachykinin-3 coded by the TAC3 gene
- Neuromedin-K receptor (Tachykinin receptor) coded by the TACR3 gene
Many of the the above genes are also implicated in Kallmann syndrome which is hypogonadotrophic hypogonadism and anosmia.
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