一例NSMF基因突变所致特发性低促性腺激素性性功能减退症的诊治分析

doi:10.16288/j.yczz.25-187

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Hereditas(Beijing) ›› 2026, Vol. 48 ›› Issue (5): 535-543.doi: 10.16288/j.yczz.25-187

• Genetic Resource • Previous Articles Next Articles

Diagnosis and treatment analysis of a case of idiopathic hypogonadotropic hypogonadism caused by NSMF gene mutation

Shuyi Peng(), Kai Wang, Shuqi Wang, Mingjin Zhang, Pei Sheng, Xiaofei An()

Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing 210029, China

Received:2025-11-04 Revised:2026-01-13 Online:2026-02-09 Published:2026-02-09
Contact: Xiaofei An E-mail:yunche0220@163.com;anxiaofei2000@163.com
Supported by:
National Natural Science Foundation of China(82374386)

Abstract

Abstract:

Idiopathic hypogonadotropic hypogonadism (IHH) is a rare endocrine disorder characterized by deficiency or dysfunction of endogenous gonadotropin-releasing hormone (GnRH), leading primarily to hypogonadism. Based on the presence or absence of olfactory dysfunction, IHH is classified into Kallmann syndrome (KS) and normosmic IHH (nIHH). In this study, we reported a 15-year-old male with nIHH, presenting with delayed puberty, hypogonadotropic hypogonadism and normal olfaction. High-throughput gene sequencing identified a novel NSMF:c.79C>G (p.Arg27Gly) variant which has not been reported in the previous literature. By summarizing the patient’s clinical characteristics and analyzing new NSMF gene variant, this study enriches the mutation spectrum of NSMF gene and provides clinical data and genetic resources for the diagnosis and treatment of IHH.

Key words: idiopathic hypogonadotropic hypogonadism, hypotestosteronism, NSMF gene

Shuyi Peng, Kai Wang, Shuqi Wang, Mingjin Zhang, Pei Sheng, Xiaofei An. Diagnosis and treatment analysis of a case of idiopathic hypogonadotropic hypogonadism caused by NSMF gene mutation[J]. Hereditas(Beijing), 2026, 48(5): 535-543.

Figures/Tables 5

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病例	性别	核苷酸变异	氨基酸改变	结构域	共存突变基因	遗传模式	表型类型	参考文献
1	男	c.1261C>T	p.Leu421Phe	ZFD	PROKR2、 SPRY4	寡基因遗传	KS	[25]
2	男	c.C53A	p.Ser18X	-	-	单基因遗传	IHH	[26]
3	男	c.1025G>T	p.Gly342Val	-	-	单基因遗传	FHH	[27]
4	男	-	-	-	-	单基因遗传	IHH	[28]
5	男	c.533C > A	p.Thr178Asn	-	CHD7	寡基因遗传	nIHH	[11]
6	男	c.421G > A	p.Ala141Thr	ZFD	ANOS1	寡基因遗传	KS	[11]
7	男	c.241G > A	p.Gly81Ser	-	-	单基因遗传	KS	[11]
8	男	c.521C > T	p.Ala174Val	-	-	单基因遗传	KS	[11]
9	男	c.500G>A	p.Cys167Tyr	ZFD	BMP2	寡基因遗传	nIHH	[6]
10	男	c.909C>T	p.His303=	-	-	单基因遗传	nIHH	[6]
11	男	c.497A>G	p.Glu166Gly	ZFD	FGF8	寡基因遗传	nIHH	[6]
12	男	c.365_366insA	p.Val123GlyfsTer69	-	-	单基因遗传	nIHH	[6]
13	男	c.757G>A	p.Ala253Thr	-	KAL1	寡基因遗传	KS	[17]
14	男	c.1160-13C>T	-	-	TACR3	寡基因遗传	KS	[17]
15	男	c.629-21G>C;c.629-23C>G	-	-	-	单基因遗传	nIHH	[17]
16	男	c.1438 A>G，	p.Thr480 Ala	NES	-	单基因遗传	IHH	[29]

Diagnosis and treatment analysis of a case of idiopathic hypogonadotropic hypogonadism caused by NSMF gene mutation

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