Table 1. Open in new tab Characteristics...

ID	Sex	Mutation	Family History	Result of T₄-Based NBS	TFT at the Diagnosis	Basal PRL, ng/mL	Basal/Peak TSH by TRH Test, mU/L	Clinical Information at the Last Visit
1	M	IGSF1 p.Leu680Pro	No	Positive	0.1	4.4	0.71	33.2	NE	3	−0.2	No	4.0
2	M	IGSF1 p.Tyr856*	No	Positive	0.1	2.6	0.44	NE	NE	6	+1.0	No	1.7
3	M	IGSF1 p.Arg1189*	No	Positive	0.1	3.0	0.63	7.4	3.0/5.8	9	+0.1	Present	2.3
4	M	IGSF1 c.2056+1G>A	Present	Negative	10	7.1	0.65	1.0	7.1/6.0	23	−1.0	No	1.4
5	M	IGSF1 4.8-kb deletion	No	Positive	0.1	2.9	0.45	11.7	2.9/5.8	14	−1.4	No	1.0
6	M	TBL1X p.Asn382del	No	Positive	0.2	2.7	0.53	34.0	2.7/21.4	6	−1.5	No	Not treated
7	M		No	NA^{^a}	0.0	2.0	0.73	NE	NE	10	−4.3	Present	3.3
8	M		No	Positive	0.1	2.5	0.55	NE	2.5/9.0	6	−2.0	No	1.4
9	M		No	Positive	0.2	6.4	0.73	174.3	6.4/29.3	9	+0.4	No	1.7
10	F		No	Negative	0.9	3.2	0.68	6.6	NE	5	−1.1	No	2.0
11	M		No	NA^{^a}	0.9	1.2	0.79	5.0	1.2/11.9	5	−0.7	No	2.1
12	M		No	NA^{^a}	1.1	5.9	0.79	6.4	NE	8	−2.5	Present	3.9
13	F		No	Negative	4	2.1	0.70	7.3	2.1/42.0	20	+1.8	Present	1.5
Ref						1.7-9.1^{^b}	0.9-2.3^{^b}	M, 4.3–13.7
F, 4.9–29.3

Sex

Mutation

Family History

Result of T₄-Based NBS

TFT at the Diagnosis

Basal PRL, ng/mL

Basal/Peak TSH by TRH Test, mU/L

Clinical Information at the Last Visit

Age, y

TSH, mU/L

Free T4, ng/dL

Age, y

Height SD Score

Intellectual Disability

L-T4 Dose, μg/kg/d

IGSF1 p.Leu680Pro

Positive

0.1

4.4

0.71

33.2

−0.2

4.0

IGSF1 p.Tyr856*

Positive

0.1

2.6

0.44

+1.0

1.7

IGSF1 p.Arg1189*

Positive

0.1

3.0

0.63

7.4

3.0/5.8

+0.1

Present

2.3

IGSF1 c.2056+1G>A

Present

Negative

7.1

0.65

1.0

7.1/6.0

−1.0

1.4

IGSF1 4.8-kb deletion

Positive

0.1

2.9

0.45

11.7

2.9/5.8

−1.4

1.0

TBL1X p.Asn382del

Positive

0.2

2.7

0.53

34.0

2.7/21.4

−1.5

Not treated

NA^{^a}

0.0

2.0

0.73

−4.3

Present

3.3

Positive

0.1

2.5

0.55

2.5/9.0

−2.0

1.4

Positive

0.2

6.4

0.73

174.3

6.4/29.3

+0.4

1.7

Negative

0.9

3.2

0.68

6.6

−1.1

2.0

NA^{^a}

0.9

1.2

0.79

5.0

1.2/11.9

−0.7

2.1

NA^{^a}

1.1

5.9

0.79

6.4

−2.5

Present

3.9

Negative

2.1

0.70

7.3

2.1/42.0

+1.8

Present

1.5

Ref

1.7-9.1^{^b}

0.9-2.3^{^b}

M, 4.3–13.7

F, 4.9–29.3

ID	Sex	Mutation	Family History	Result of T₄-Based NBS	TFT at the Diagnosis	Basal PRL, ng/mL	Basal/Peak TSH by TRH Test, mU/L	Clinical Information at the Last Visit
1	M	IGSF1 p.Leu680Pro	No	Positive	0.1	4.4	0.71	33.2	NE	3	−0.2	No	4.0
2	M	IGSF1 p.Tyr856*	No	Positive	0.1	2.6	0.44	NE	NE	6	+1.0	No	1.7
3	M	IGSF1 p.Arg1189*	No	Positive	0.1	3.0	0.63	7.4	3.0/5.8	9	+0.1	Present	2.3
4	M	IGSF1 c.2056+1G>A	Present	Negative	10	7.1	0.65	1.0	7.1/6.0	23	−1.0	No	1.4
5	M	IGSF1 4.8-kb deletion	No	Positive	0.1	2.9	0.45	11.7	2.9/5.8	14	−1.4	No	1.0
6	M	TBL1X p.Asn382del	No	Positive	0.2	2.7	0.53	34.0	2.7/21.4	6	−1.5	No	Not treated
7	M		No	NA^{^a}	0.0	2.0	0.73	NE	NE	10	−4.3	Present	3.3
8	M		No	Positive	0.1	2.5	0.55	NE	2.5/9.0	6	−2.0	No	1.4
9	M		No	Positive	0.2	6.4	0.73	174.3	6.4/29.3	9	+0.4	No	1.7
10	F		No	Negative	0.9	3.2	0.68	6.6	NE	5	−1.1	No	2.0
11	M		No	NA^{^a}	0.9	1.2	0.79	5.0	1.2/11.9	5	−0.7	No	2.1
12	M		No	NA^{^a}	1.1	5.9	0.79	6.4	NE	8	−2.5	Present	3.9
13	F		No	Negative	4	2.1	0.70	7.3	2.1/42.0	20	+1.8	Present	1.5
Ref						1.7-9.1^{^b}	0.9-2.3^{^b}	M, 4.3–13.7
F, 4.9–29.3

Table 1.

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Characteristics of the Study Subjects

ID	Sex	Mutation	Family History	Result of T₄-Based NBS	TFT at the Diagnosis			Basal PRL, ng/mL	Basal/Peak TSH by TRH Test, mU/L	Clinical Information at the Last Visit
ID	Sex	Mutation	Family History	Result of T₄-Based NBS	Age, y	TSH, mU/L	Free T4, ng/dL	Basal PRL, ng/mL	Basal/Peak TSH by TRH Test, mU/L	Age, y	Height SD Score	Intellectual Disability	L-T4 Dose, μg/kg/d
1	M	IGSF1 p.Leu680Pro	No	Positive	0.1	4.4	0.71	33.2	NE	3	−0.2	No	4.0
2	M	IGSF1 p.Tyr856*	No	Positive	0.1	2.6	0.44	NE	NE	6	+1.0	No	1.7
3	M	IGSF1 p.Arg1189*	No	Positive	0.1	3.0	0.63	7.4	3.0/5.8	9	+0.1	Present	2.3
4	M	IGSF1 c.2056+1G>A	Present	Negative	10	7.1	0.65	1.0	7.1/6.0	23	−1.0	No	1.4
5	M	IGSF1 4.8-kb deletion	No	Positive	0.1	2.9	0.45	11.7	2.9/5.8	14	−1.4	No	1.0
6	M	TBL1X p.Asn382del	No	Positive	0.2	2.7	0.53	34.0	2.7/21.4	6	−1.5	No	Not treated
7	M		No	NA^{^a}	0.0	2.0	0.73	NE	NE	10	−4.3	Present	3.3
8	M		No	Positive	0.1	2.5	0.55	NE	2.5/9.0	6	−2.0	No	1.4
9	M		No	Positive	0.2	6.4	0.73	174.3	6.4/29.3	9	+0.4	No	1.7
10	F		No	Negative	0.9	3.2	0.68	6.6	NE	5	−1.1	No	2.0
11	M		No	NA^{^a}	0.9	1.2	0.79	5.0	1.2/11.9	5	−0.7	No	2.1
12	M		No	NA^{^a}	1.1	5.9	0.79	6.4	NE	8	−2.5	Present	3.9
13	F		No	Negative	4	2.1	0.70	7.3	2.1/42.0	20	+1.8	Present	1.5
Ref						1.7-9.1^{^b}	0.9-2.3^{^b}	M, 4.3–13.7
Ref						1.7-9.1^{^b}	0.9-2.3^{^b}	F, 4.9–29.3

ID	Sex	Mutation	Family History	Result of T₄-Based NBS	TFT at the Diagnosis			Basal PRL, ng/mL	Basal/Peak TSH by TRH Test, mU/L	Clinical Information at the Last Visit
ID	Sex	Mutation	Family History	Result of T₄-Based NBS	Age, y	TSH, mU/L	Free T4, ng/dL	Basal PRL, ng/mL	Basal/Peak TSH by TRH Test, mU/L	Age, y	Height SD Score	Intellectual Disability	L-T4 Dose, μg/kg/d
1	M	IGSF1 p.Leu680Pro	No	Positive	0.1	4.4	0.71	33.2	NE	3	−0.2	No	4.0
2	M	IGSF1 p.Tyr856*	No	Positive	0.1	2.6	0.44	NE	NE	6	+1.0	No	1.7
3	M	IGSF1 p.Arg1189*	No	Positive	0.1	3.0	0.63	7.4	3.0/5.8	9	+0.1	Present	2.3
4	M	IGSF1 c.2056+1G>A	Present	Negative	10	7.1	0.65	1.0	7.1/6.0	23	−1.0	No	1.4
5	M	IGSF1 4.8-kb deletion	No	Positive	0.1	2.9	0.45	11.7	2.9/5.8	14	−1.4	No	1.0
6	M	TBL1X p.Asn382del	No	Positive	0.2	2.7	0.53	34.0	2.7/21.4	6	−1.5	No	Not treated
7	M		No	NA^{^a}	0.0	2.0	0.73	NE	NE	10	−4.3	Present	3.3
8	M		No	Positive	0.1	2.5	0.55	NE	2.5/9.0	6	−2.0	No	1.4
9	M		No	Positive	0.2	6.4	0.73	174.3	6.4/29.3	9	+0.4	No	1.7
10	F		No	Negative	0.9	3.2	0.68	6.6	NE	5	−1.1	No	2.0
11	M		No	NA^{^a}	0.9	1.2	0.79	5.0	1.2/11.9	5	−0.7	No	2.1
12	M		No	NA^{^a}	1.1	5.9	0.79	6.4	NE	8	−2.5	Present	3.9
13	F		No	Negative	4	2.1	0.70	7.3	2.1/42.0	20	+1.8	Present	1.5
Ref						1.7-9.1^{^b}	0.9-2.3^{^b}	M, 4.3–13.7
Ref						1.7-9.1^{^b}	0.9-2.3^{^b}	F, 4.9–29.3

Abbreviations: F, female; L-T4, levothyroxine; M, male; NA, not applicable; NE, not evaluated; TFT, thyroid function tests.

These patients received TSH-based NBS.

Reference range for neonates.

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