Table 2.

Laboratory values of case patient 1.

Biochemistry/Age	3 months	2.0 years	3.0 years	5.5 years	7 years	13.5 years	14.5 years	15 years	15.5 years	16.3 years	25 years
TSH [mU/L] (0.59–4.23)	3.83			NA	3.912	2.281	1.584			2.54	4.5
fT4 [pmol/L] (11.7–22.5)	14.9			16.5	13.2					13.57	16.0
fT3 [pmol/L] (3.79–6.05)	4.0			7	5.3					5.23	7.1
IGF-1 [μg/L]				312 (high)		141	103	89.4			128
IGFBP3 [mg/L]						4.6	5.02	5.89			2.67
GH (basal/peak) [μg/L]				2.9			0.199/2.76 (arginine)	0.515/1.76 (L-DOPA)
LH [U/L]						<0.1	0.665	0.566		1.32	4.6
FSH [U/L]						0.919	2.2	2.27		1.64	2.2
Cortisol (basal/peak)* [nmol/L]	40.7/54	12/21	171†
ACTH [pmol/L] (<10.20)			<2.2
PRA [μg/L/h]				0.24 (low)	0.54
Insulin (basal/2 h) [mU/L]		4.3		2.5/37.4
Glucose (basal/2 h) [mmol/L]		3.7	3.4	3.1/7.0	22.7
Androstendion [nmol/L] (0.7–10.8)											1.47
DHEA-S [μmol/L] (3.6–12.9)							0.0				1.6
SHBG [nmol/L] (18–114)											67.0
Testosterone, total [nmol/L]						0.0	0.0	0.05		2.5	33.7
Testosterone, free [pmol/L]											64.4
Total cholesterol [mmol/L] (<5.2)		4.1	4.5	4.2	3.2	5.6	4.1			6.1	4.5
LDL [mmol/L] (<3.4)		2.5	2.7	2.6	1.9	3.0	2.7			3.1	2.9
HDL [mmol/L] (>1.3)		0.5	0.9	1.0	0.7	0.7	0.7			0.8	1.0
Triglycerides [mmol/L] (<1.7)		2.1	2.0	1.2	1.4	4.0	2.8			10.7	1.4
Pubertal status				A1, P1		A1, P1	A1, P1	A1, P1	P2	A1, P2
Testicular volume [mL]				1-2	2	2	3	1-2	8-10	15

Reference values are stated in brackets. *Peak values were obtained 60 minutes after stimulation with synthetic ACTH 125 µg and 250 µg intramuscularly at 3 months and 2 years, respectively, ^†value obtained while on substitution with hydrocortisone.