Table 2. Genetic analyses.

Case	Karyotype	CGH Array	GnRH1	GnRHR	KISS1	KISS1R	TAC3	TACR3	KAL1	FGFR1	PROKR2	PROK2	SEMA3A	Diagnosis
1	46, XY		N				N	N		N				KS
2									N	N	N	N	N	KS
3	46, XY								N	N	N	N	N	KS
6			N	N			N	N	mutated					KS; KAL1 mutated,STS
7	46, XY		N	N	N	N	N	N		N	N	N		HH
8		N	N	N	N	N	N	N						HH
10	pericentric inversion of chromosome 9	N	N	N	N	N	N	N	N	N				HH
11		N	N	N	N	N	N	N						HH
12			N	N	N	N	N	N			mutated			HH: PROKR2 c.253C>T heterozygous missense mutation, p.Arg85Cys
13	46, XY		N	N	N	N	N	N	N	N	N	N	N	KS
14	46, XY								N	mutated				KS; FGFR1 c.286T>C heterozygous missense mutation, p.Ser96Pro. Mother N
17			N	N			N	N						HH
18			N	N										HH
19		N	N	N	N	N	N	N						HH
22			N	N	N	N	N	N						HH
23	46, XY	N	N	N		N								HH
25			N				N	N		N				HH
28	46, XY	N	N	N	N	N	N	N			N	N		HH
29									N	N	N	N	N	KS
31			N	N	N	N	N	N	N	N				KS
32									N	N	N	N		KS
36			N	N		N				mutated				KS; FGFR1 c.962_963delAA mutation; p.Lys321Argfs*13
40		N	N	N	N	N	N		N	N	N			HH
43			N	mutated	N	N	N	N						HH; R-GnRH Glu106Arg heterozygous mutation, c. 317 A>G. Mother N,
44			N				N	N		N				HH
45	46, XY	N												HH
46	46, XY										N	N		KS

Case 33: microduplication of chromosome 15, not found in the parents.