Table 2.

Biochemical tests for hormone deficiencies in affected individuals

Feature	Family 1		Family 2				Family 3	Family 4		Family 5		Family 6
Individuals	II.1	II.2	I.1	II.2 (i)	II.4	III.1	II.1	I.2	II.1	I.1	II.1 (i)	II.1 (i)	II.2
GHSTs	N/A	N/A	clonidine, ITT	clonidine, ITT	clonidine	N/A	N/A	glucagon, insulin, clonidine	basal neonatal	insulin, l-dopa	arginine, clonidine	ITT	ITT
GH peak (ng/mL)	N/A	N/A	7.6	0.9	0.5	N/A	N/A	ND	ND	2.9a	2.7b	3.7 mU/L	3.6 mU/L
TSH (U/L)	N/A	N/A	0.6	0.7	1.7	N/A	N/A	N/A	0.28	N/A	3.4	normal	normal
Total T4 (ug/dL)	N/A	N/A	6.4	6	5.6–7.3	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
Free T4 (ng/dL)	N/A	N/A	0.7	0.6–1.1	0.6–0.9	N/A	N/A	N/A	0.4	0.9	1.2	N/A	N/A
Prolactin (ng/mL)	N/A	N/A	N/A	3.8–12	3.2–6.6	N/A	N/A	2.0 mU/L	9 mU/L	8.3	4.4	N/A	N/A
Cortisol (μg/dL)	N/A	N/A	N/A	peak ITT 42	normal	N/A	N/A	treated in twenties	36.2 nmol/L	13	13.2	N/A	N/A
LH/FSH	N/A	N/A	N/A	early puberty	normal puberty	N/A	N/A	delayed puberty, spontaneous pregnancy	normal	spontaneous puberty	0.1/0.75	spontaneous puberty	N/A

Abbreviations are as follows: i, index case; N/A, not available; GHSTs, growth hormone stimulation tests; ND, non-detectable; ITT, insulin-tolerance test; LH, luteinizing hormone; FSH, follicle stimulating hormone.

^aCut-off 4.8 ng/mL.

^bCut-off 10 ng/mL.