Table 1.

Endocrine investigations in patients carrying SOX2 heterozygous mutations

	Patient 1 (Ht SOX2 deletion)			Patient 2 (c.143TC>AA, p.F48X)
	1a	1b	normal range		normal range
Total T4 (µg/dl)	–	8.98	4.5–12.5
FT4 (ng/dl)	1.40		0.9–1.9	1.24	0.7–1.94
TSH (mU/L)	1.41	1.68	0.4–4.5	–
IGF-1 (µg/L)	270.7	291	96–502	48	51–303
IGFBP3 (mg/L)				1.42	0.80–3.90
Random GH (ng/ml)	6.84	0.60	–	–	–
Basal cortisol (µg/dl)	13.70	22.51	5–25	18.05	5–25
Peak cortisol (µg/dl)	–	–		27.80
Basal LH (U/L)	0.19	0.10
Basal FSH (U/L)	0.31	0.47
Estradiol (pg/ml)	25.60	9.16
Basal testosterone (µg/L)	–	–	–	0.20	–
Testosterone at 3–week HCG test (µg/L)				1.73