Yamamoto Shinta, Nakajima Hanako, Okada Hiroshi, Nakanishi Naoko, Hamaguchi Masahide, Fukui Michiaki
Department of Endocrinology and Metabolism, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
JCEM Case Rep. 2025 Jan 15;3(1):luae254. doi: 10.1210/jcemcr/luae254. eCollection 2025 Jan.
Congenital hypogonadotropic hypogonadism (CHH) can cause delayed secondary sexual characteristics and contribute to juvenile osteoporosis, with multiple causative genes having been reported. We treated a 27-year-old man diagnosed with central hypogonadism, presenting with delayed secondary sexual characteristics and juvenile osteoporosis, using bone resorption inhibitors and testosterone therapy. Genetic testing revealed missense variants both in the fibroblast growth factor receptor 1 () and gonadotropin-releasing hormone receptor () genes, a combination that has not been previously reported. This case represents a CHH caused by a novel combination of gene variants not registered in the human genome mutation database.
先天性低促性腺激素性性腺功能减退（CHH）可导致继发性征发育延迟，并导致青少年骨质疏松，目前已报道了多个致病基因。我们对一名27岁被诊断为中枢性性腺功能减退的男性进行了治疗，该患者表现为继发性征发育延迟和青少年骨质疏松，采用了骨吸收抑制剂和睾酮治疗。基因检测发现成纤维细胞生长因子受体1（）和促性腺激素释放激素受体（）基因均存在错义变异，这种组合此前尚未见报道。该病例代表了一种由人类基因组突变数据库中未登记的新型基因变异组合导致的CHH。
