Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism

Table 1

The correlation of genotypes and phenotypes between proband nIHH and reported Kallmann patient.

Proband	Our research	Previously reported
Dx	nIHH	KS
Sex/age of onset (month)	M/1	F/U
Clinical phenotype
Puberty	+	+
Anosmia	—	+
Skeletal dysplasia	—	+
Hearing loss	—	+
Dental agenesis	—	—
Strabism	+	U
Left palate	—	U
Genetic mutation analysis
Mutation	FGFR1 (E670K)	FGFR1 (E670K)
	CEP290 (D322N)	FLRT3 (Q69K)
Genotype	Heterozygous	Heterozygous
Mutation type	Missense	Missense
Reference	De novo	[28]

Abbreviations are as follows: KS—Kallmann syndrome; Dx—diagnosis; S—sporadic; F—familial; “+”—abnormal (absent puberty is defined as or primary amenorrhea at presentation); “U”—unknown; “-”—normal; E—glutamic acid; K—lysine; D—aspartic acid; N—asparagine; Q—glutamine.