Table 2 Detailed thyroid and gonadal hormones profiles of the IGSF1-deficient patient at 14 years of age and his parents.

Age	Patient			Mother¹	Father	Normal ranges
	A	B	C	Mother¹	Father	Male	Male	Female
	14 y	14 y	14 y	50 y	49 y	T-IV	Adult	Menopause
TSH mIU/L	0.002	1.7	2.0	0.002	2.17	0.4–4.3
FT4 pmol/L	17.2	8.3	9.1	26.6	17.1	11–25
T4 nmol/L	67	41.4	40.2	109.0	95.1	58–128
T3 nmol/L	1.57	1.37	1.40	1.82	1.58	1.4–2.5
L-T4 dose μg/Kg/day	1.4	0	0	1	0
FSH IU/L	2.9	4.0	4.1	123.0	3.8	0.3–8	1.5–14	35–150
LH IU/L	0.6	1.0	1.1	32.8	3.4	0.5–5	1.5–8	15–90
SHBG nmol/L	20.3	11.7	11.7	78.8	31.7	13–88	10–70	20–120
Testosterone nmol/L	11.3	15.3	11.0	0.1	11.7	9–19	10–30	0.5–3
E2 pmol/L	97	112	85	27	104	17–178	50–200	<50
Inhibin B ng/L	505	423	500	20	236	107–310	150–400	10–200
AMH μg/L	44.4	48.0	40.7	0.1	15.3	2–15.5*	1.8–13.7*	<0.1

Three hormone profiles of the patient correspond to three subsequent time points: A, Under L-T4 treatment, B, Four weeks after levo-thyroxine withdrawal for the performance of a TRH test, and C, 3 hours after TRH stimulation. In italic and bold, hormone values below and above normal ranges, respectively. ¹The mother started levo-thyroxine treatment for central hypothyroidism 1 year after diagnosis of her child with hypothyroidism. Therefore, her hormone determinations were performed under L-T4 treatment.
TSH: thyrotropin, FT4: free thyroxine, T4: total thyroxine, T3: total triiodothyronine, L-T4: levo-thyroxine treatment, FSH: follicle-stimulating hormone, LH: luteinizing hormone, SHBG: sex hormone-binding globulin, E2: estradiol, AMH: anti-müllerian hormone, y: years, T-IV: Tanner IV. Normal ranges for thyroid hormone axis and for adult male and postmenopausal female gonadal hormones are from the Laboratory of the Institution where determinations were performed. Normal ranges for gonadal hormones of a male in the Tanner IV stage are from refs 73, 74, 75, 76. *Normal range for male anti-müllerian hormone is from ref. 77.

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