Table 1. Long-term follow up of thyroid and gonadal hormone profiles of the patient with IGSF1 deletion.

Age	*14 d	1 mo	5 mo	#3y	#6y	8 y	9 y	10 y	11 y	12 y	12.5y	14 y
TSH mIU/L	1.4	0.11	0.09	1.07	1.52	<0.01	0.08	<0.01	<0.01	<0.01	<0.01	<0.01
FT4 pmol/L	7.2	26	23.5	9.9	7.7	16.1	11.6	14.8	11.2	8.4	13.5	11.7
L-T4 dose μg/Kg/day	0	10	5	0	0	1.9	2	1.65	1.4	1.35	1.9	1.4
FSH IU/L	6.3	4.5	1.2	0.43	0.66	0.74	0.88	1.10	0.82	1.11	1.76	2.56
LH IU/L	0.15	na	0.54	<0.1	0.2	0.10	0.14	0.18	0.10	0.27	0.85	0.41
Testosterone nmol/L	1	na	1	na	<0.5	<0.5	<0.5	<0.5	<0.5	0.6	13.50	11.80
†Testicular vol. ml (p98 upon age)	Na	2 (2.8)	2 (2.8)	3 (2.8)	4 (3.5)	5 (3.8)	5 (4)	6 (5)	8 (8)	12 (15)	20 (24)	40 (28)

Hormone parameters are presented in chronological order along patient’s lifespan. In italics and bold, hormone values below and above normal ranges for age, respectively. *Age at clinical diagnosis of the patient. ^#Age after 1 month levo-thyroxine withdrawal to perform two separate TRH tests. ^†Testicular volume was measured by orchidometer until size exceeded 25 ml, when a caliper and the Lamber’s formula were used¹⁸.

TSH: thyrotropin, FT4: free thyroxine, L-T4: levothyroxine treatment, FSH: follicle-stimulating hormone, LH: luteinizing hormone, vol.: volume. d: days; mo: months; y: years; na: not available. Normal ranges for TSH and FT4 are from the Laboratory of the Institution where determinations were performed (TSH: 0.4–4.3 mIU/L, FT4: 11–25 pmol/L), age-related normal ranges for gonadal hormones are from refs ⁷³, ⁷⁴, ⁷⁵, and for testicular volume are from ref. 52.