. 2014 Sep 16;99(12):E2762–E2771. doi: 10.1210/jc.2014-2233

Table 1.

Subject Characteristics

#	Sex	Age (y)	BMI (kg/m²)	Diagnosis	Age at Presentation (y)^a	Rare Sequence Variant^b	TV (mL)	Change in LH Amplitude in Response to GnRH (mIU/mL)^c	Prior Hormone Treatment	Other
1	M	43	38.6	KS	16	KAL1 p.L601YfsX18	9, 8	1.3	GnRH
									T
2	M	59	29.0	KS	18	None identified	2,2	0.1	GnRH	Rheumatoid arthritis
									hCG
									FSH
									T
3	M	20	35.1	KS	14	None identified	2, 3	2.6	hCG
									T
4	M	38	45.7	KS	17	PROKR2 p.L173R	4, 5	0.5	GnRH
									FSH
									T
5	M	53	28.6	KS	25	None identified	2, 2	0.5	GnRH
									T
6	M	32	31.9	nIHH	12	FGFR1 p.[F747L; D768H]	6, 6	1.4	T
7	M	42	33.5	nIHH	16	None identified	10, 12	6.8	hCG
									FSH
									T
8	M	47	28.5	nIHH	21	None identified	15, 10	5.9	GnRH
									hCG
									T
9	M	22	22.7	KS	17	FGFR1 p.G687R	4, 5	4.6	T
						KISS1 p.C53R
10	F	54	31.0	KS	18	FGFR1 p.L630P	NA	6.3	None	Hypothyroidism
11	F	22	30.2	nIHH	14	GNRHR p.[R262Q]; [L286P]	NA	0.3	Estrogen/progesterone
									OCP
12^d	M	23	40.5	nIHH	19	None identified	15, 20	7.3	T	Reversal

Age at presentation for delayed puberty. Subjects under the age of 18 were re-evaluated after the age of 18 to confirm the diagnosis of IHH, which was further re-confirmed for subjects 1–11 through participation in this study. Subjects 3 and 6 had been followed from birth due to cryporchidism and therefore presented at an earlier age.

Variants are listed if they were predicted to be deleterious by at least three out of four prediction programs.

Change in LH amplitude in response to GnRH is peak LH - baseline LH in response to 75 ng/kg bolus of intravenous GnRH prior to pituitary priming.

This subject attained serum testosterone in normal adult range in the absence of exogenous treatment. BMI, body mass index; KS, Kallmann syndrome; nIHH, normosmic idiopathic hypogonadotropic hypogonadism; NA, not applicable; OCP, oral contraceptive pills; T, testosterone; TV, testicular volume.