Skip to main content

Table 2 Endocrinological data at the age 19 years

From: Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Parameter

Baseline

6 month GH therapy

Normal values

GH basal, ng/ml

0.3

GH peak, ng/ml

2.0

>9.1

IGF1, ng/ml

84.6

349.0

127-424

LH basal, UI/L

0.6

1.4-12.7

LH peak, UI/L

1.1

>5

FSH basal, UI/L

1.0

1.3 – 19.5

FSH peak, UI/L

1.4

Testosteone, ng/ml

<0.1

<01

1.7-7.8

ACTH, pg/ml

14

12

<50

Antimüllerian hormone, ng/ml

30.0

1.2-15.0

Cortisol, μg/dla

7.0

0.6

6.7-22.6

TSH, μU/ml

1.9

1.8

0.4-3.4

fT3, pg/ml

4.4

4.0

2.7-5.7

fT4, ng/dl

1.2

1.1

0.7-1.7

  1. aconfirmed in multiple samples in different days and also by reduced values of urinary 24 h cortisol