Centre Hospitalier Universitaire Vaudois, Endocrine, Diabetes, & Metabolism Service, BH 19-701, Rue du Bugnon 46, 1011 Lausanne, Switzerland.
Mol Cell Endocrinol. 2011 Oct 22;346(1-2):37-43. doi: 10.1016/j.mce.2011.05.042. Epub 2011 Jun 1.
Fibroblast growth factor (FGF) signaling is critical for a broad range of developmental processes. In 2003, Fibroblast growth factor receptor 1 (FGFR1) was discovered as a novel locus causing both forms of isolate GnRH Deficiency, Kallmann syndrome [KS with anosmia] and normosmic idiopathic hypogonadotropic hypogonadism [nIHH] eventually accounting for approximately 10% of gonadotropin-releasing hormone (GnRH) deficiency cases. Such cases are characterized by a broad spectrum of reproductive phenotypes from severe congenital forms of GnRH deficiency to reversal of HH. Additionally, the variable expressivity of both reproductive and non-reproductive phenotypes among patients and family members harboring the identical FGFR1 mutations has pointed to a more complex, oligogenic model for GnRH deficiency. Further, reversal of HH in patients carrying FGFR1 mutations suggests potential gene-environment interactions in human GnRH deficiency disorders.
成纤维细胞生长因子（FGF）信号对于广泛的发育过程至关重要。2003 年，成纤维细胞生长因子受体 1（FGFR1）被发现是一种新的基因座，可导致两种形式的孤立性 GnRH 缺乏症，即卡尔曼综合征[伴有嗅觉缺失]和正常嗅觉特发性促性腺激素释放激素缺乏症[nIHH]，最终约占促性腺激素释放激素（GnRH）缺乏症病例的 10%。此类病例的特征是具有广泛的生殖表型，从严重的先天性 GnRH 缺乏到 HH 逆转。此外，携带相同 FGFR1 突变的患者和家庭成员的生殖和非生殖表型的可变表达性表明 GnRH 缺乏症存在更为复杂的多基因模型。此外，携带 FGFR1 突变的患者 HH 逆转表明人类 GnRH 缺乏症中存在潜在的基因-环境相互作用。
