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

From: The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

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)

  1. 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.
  2. 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.
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