Table 2. Phenotypes and genotypes data of our cohort.

Case	Sex	Age	T4 (μg/dL) (4.5–15.4)	TSH (μIU/mL) (0.25–7.31)	FT4 (ng/dL) (0.5–2.3)	Allele 1, Amino acid	Allele 2, Amino acid	Current treatment	Clinical course
								Oral treatment of L-T4
1	F	5	4.33	37.5	0.77	p.K530X	p.R1211H	37.5 μg per day	Permanent
2	M	5	4.74	28.9	0.62	p.R1110Q	p.D137E	Stopped	Transient
3	F	5	2.65	>100	0.38	p.D1121fsX48	p.R1110Q	Stopped	Transient
4	F	12	3.45	79.2	0.67	p.R683L	p.L1343F	25 μg per day	Permanent
5	M	7	9.32	13.01	1.06	p.R885L	p.R885L	Stopped	Transient
6	M	6	4.84	36.72	0.54	p.K530X	p.S199fs	Stopped	Transient
7	F	10	2.43	53.4	0.43	p.R683L	p.R885Q	37.5 μg per day	Permanent
8	F	4	7.87	72.51	0.98	p.L1343F	p.R683L	Stopped	Transient
9	F	7	0.58	100	0.13	p.R683L	p.L1343F	No data	No data
10	M	7	0.96	100	0.19	p.R885L	p.L320P	50 μg per day	Permanent
11	M	8	3.94	100	0.49	p.K530X	p.K530X	Stopped	Transient
12	F	4	5.47	27.83	0.62	p.R885L	p.Q570X	Stopped	Transient
13	M	10	1.33	78.2	0.53	p.R1110Q	p.R1110Q	87.5 μg per day	Permanent
14	F	7	1.45	89.3	0.34	p.R1110Q	p.R1110Q	87.5 μg per day	Permanent
15	F	4	1.98	100	0.53	p.R885L	p.K530X	Stopped	Transient
16	F	6	3.62	38.3	1.09	p.A1206T	p.R376L	Stopped	Transient
17	M	5	2.87	63.4	0.42	p.T1319I	p.K530X	Stopped	Transient
18	F	2	4.44	81.65	0.65	p.R1110Q	p.Gly1173SerfsX14	12.5 μg per day	Mild permanent
19	F	5	4.53	75.2	0.53	p.K530X	p.Tyr1096SerfsX12	12.5 μg per day	Mild permanent
20	F	6	4.33	68.2	0.67	p.L1343F	p.A1206T	50 μg per day	Permanent

No data: patients lost to follow-up.