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Table 1 Endocrine evaluation in the patient with 4H leukodystrophy

From: Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy

Analysis

At age of 26 yrs

At age of 32 yrs

Normal range

FSH (IU/L)

1.1

1.4

2.5-15

Peak FSH after LHRH test (IU/L)

1.5

1.5

>5

LH (IU/L)a

<1.0

1.1

4-20

Peak LH after LHRH test (IU/L)

<1.0

1.3

>5

Estradiol (pmol/L)

46.3

13.1

105-217

Prolactin (mean, daily curve, ng/mL)b

1.5

2.2

4.8-23.4

Peak prolactin after ITT (ng/mL)c

4.7

4.5

>> > b

Peak prolactin after TRH test (ng/mL)d

N/A

6

>> > b

Thyroxine (nmol/L)

134.7

N/A

60-170

Free thyroxine (pmol/L)

N/A

14.1

7-18

Triiodothyronine (nmol/L)

N/A

1.4

0.9-2.4

Free triiodothyronine (pmol/L)

N/A

3.8

2.62-5.7

TSH (mIU/L)

1.0

1.7

0.15-5.0

Cortisol (nmol/L)

332

428

131-642

Peak cortisol after ITT (nmol/L)c

922

827

>550

IGF-1 (nmol/L)

N/A

26.5

15.1-40.2

Growth hormone (daily curve, μg/L)e

11.5…0.1…0.1

1.6…0.2…0.4

<0.1

Peak GH after ITT (μg/L)c

2.4

6.1

>3

  1. Abbreviations:FSH, follicle-stimulating hormone; LHRH, luteinizing hormone-releasing hormone; LH, luteinizing hormone; ITT, insulin tolerance test; TRH, thyrotropin-releasing hormone; IGF-1, insulin-like growth factor 1; GH, growth hormone.
  2. aLH measured every 15 minutes during 8 hours; bMean of three diurnal values measured at 08 h-11 h-13 h; cAfter insulin tolerance test; dAfter TRH test; eThree diurnal values measured at 08 h-11 h-13 h; >> > b: Several-fold increase compared to the mean daily prolactin.