Table 2.

Clinical and biochemical features of the patients with cHH.

Patient ID	Sex	Gene	Refseq	Variant	Type of Variant	Genotype	Inheritance	Zygosity	MAF	Familiar Segregation	Variant Classification	References
1	M	IL17RD	NM_017563.4	c.960G>A	Missense	p.(Met320Ile)	AD/AR/DD	Het	0.008%	N/A	VUS	Novel variant
		FGF17	NM_003867.3	c.208G>A	Missense	p.(Gly70Arg)	AD	Het	0.008%	N/A	VUS	Novel variant
2	F	DUSP6	NM_001946.3	c.434T>G	Missense	p.(Leu145Arg)	AD	Het	-	YES	VUS	Novel variant
3	M	PROK2	NM_001126128.1	c.163del	Nonsense	p.(Ile55*)	AD	Het	-	N/A	Pathogenic	[44]
		CHD7	NM_017780	c.576T>A	Nonsense	p.(Tyr192*)	AD	Het	-	N/A	Likely Pathogenic	Novel variant
4	M	CHD7	NM_017780.3	c.2750C>T	Missense	p.(Thr917Met)	AD	Het	-	N/A	VUS	[42]
		FLRT3	NM_198391.2	c.1106C>T	Missense	p.(Ala369Val)	AD	Het	0.0036%	N/A	VUS	[41]
5	M	CHD7	NM_017780.4	c.7891C>T	Nonsense	p.(Arg2631*)	AD	Het	-	N/A	Pathogenic	[41]
		CCDC103	NM_213607.3	c.461A>C	Missense	p.(His154Pro)	AR	Het	0.3234%	N/A	Pathogenic	[43]

Abbreviations. AD, autosomal dominant; AR, autosomal recessive; Het, heterozygous; cHH, congenital hypogonadotropic hypogonadism; F, female; M, male; VUS, variance of uncertain significance. CCDC103, coiled-coil domain-containing protein 103; CHD7, Chromodomain Helicase DNA Binding Protein 7; DUSP6, dual-specificity phosphatase 6; FGF17, Fibroblast Growth Factor 17; FLT3, FMS-related tyrosine kinase 3; IL17RD, Interleukin 17 Receptor D; PROK2, Prokineticin 2.