Table 2.

GH Secretion in 7 IGSF1-Deficient Male Patients

Patient No.	1	2	3	4	5	6	7	Patients (n = 7)	Controls (n = 14)	P value
Age (y)	23.8	28.2	22.0	62.5	22.2	18.4	53.5	24 (20–56)	35 (26–61)	0.135
BMI (kg/m2)	24.8	29.5	25.9	34.4	27.1	29.4	27.3	27.3 (25.5–31.5)	24.5 (21.8–29.9)	0.263
IGF-1 (SDS)a	0.6	2.2	0.1	2.0	-1.2	0.2	2.7	0.9 ± 1.3	-0.4 ± 0.8	0.043
Basal GH secretion (µg/L/24 h)	3.50	4.58	1.82	2.74	2.11	22.38	3.50	3.50 (1.99–11.70)	1.05 (0.27–3.30)	0.014
Pulsatile GH secretion (µg/L/24 h)	52.59	29.84	34.18	17.17	47.69	100.54	21.35	34.18 (19.68–71.77)	18.99 (6.58–30.99)	0.009
Total GH secretion (µg/L/24 h)	56.09	34.41	36.00	19.91	49.78	122.92	24.85	36.00 (22.87–82.82)	20.83 (7.55–32.89)	0.006
ApEn (dimensionless)	0.724	0.617	0.699	0.753	0.265	0.684	0.247	0.684 (0.258–0.736)	0.346 (0.229–0.569)	0.052
Age at diagnosis	2.5 wk	5 wk	7.3 y	61 y	2.5 wk	17 y	51 y
Hormonal deficiencies	TSH, PRL	TSH, PRL	TSH, PRLb	TSH	TSH, T	TSH	TSH
Replacement	LT4	LT4	LT4a	-	LT4, T	LT4	-
Free T4 (pmol/L)a	15.3	18.4	11.3	7.3	17.5	10.6	8.8
TSH (mU/L)a	0.01	<0.01	0.09	2.2	<0.01	0.79	0.58
Prolactin (µg/L)a	3.5	<1	<1	6.3	12.5	8.5	5.5
GH (µg/L)a	0.04	0.02	1.41	0.04	0.04	1.23	0.11
Testicular volume (SDS)c	3.52	6.50	4.65	2.32	5.60	2.46	5.13

Deconvolution of plasma GH secretion profiles in IGSF1-deficient male patients and controls. Basal, pulsatile, and total secretion of GH were log-transformed for normality. Data are presented as mean ± SD or median (P10-P90). P < 0.05 are marked in bold.

Abbreviations: ApEn, approximate entropy; LT4, levothyroxine; T, testosterone.

^aCollected at 8:00 am (fasting), in-house reference ranges: free T4 12.0-22.0 pmol/L, TSH 0.300-4.800 mU/L, IGF-1 SD scores based on age-dependent in-house normal values, GH 0.00-1.31 µg/L, prolactin 4.0-15.0 µg/L, T 8.0-31.0 nmol/L, cortisol 0.100-0.600 µmol/L.

^bPartial GH deficiency from age 7 to 17 years and treated with rhGH replacement in that period.

^cUltrasonographic volume of largest testis in SD scores (14).