Description

Blum et al developed new biochemical criteria for the diagnosis of growth hormone receptor deficiency (GHRD), with the addition of 2 criteria to those of Savage et al (previous section). The authors are from Tubingen University Children's Hospital (Germany), St. Bartholomew's Hospital (London) and the Karolinska Institute (Stockholm).


Parameters:

(1) basal serum growth hormone in µg/L

(2) serum IGF-I in µg/L

(3) IGF-I generation test (after administration of exogenous growth hormone)

(4) height expressed in standard deviation (Z) score

(5) percent growth hormone binding protein (based on binding uptake of I125-GH)

(plus new criteria)

(6) basal IGFBP-3 (IGF binding protein)

(7) IGFBP-3 generation (after administration of exogenous growth hormone)

 

Parameter

Finding

Points

basal serum growth hormone

< 2.5 µg/L

0

 

>= 2.5 µg/L

1

basal serum IGF-I

> 50 µg/L

0

 

<= 50 µg/L

1

IGF-I generation

>= 15 µg/L

0

 

< 15 µg/L

1

height

>= -3 standard deviations below mean

0

 

< -3 standard deviations below mean

1

percent GH binding protein

>= 10%

0

 

< 10%

1

basal IGFBP-3

>= -2 SDS (2 standard deviations below mean)

0

 

< -2 SDS

1

IGFBP-3 generation

>= 0.4 mg/L

0

 

< 0.4 mg/L

1

 

where:

• The basal serum growth hormone cutoff was changed from the Savage score. The initial value was 4 mU/L which apparently is about 2.5 µg/L.

• IGF-1 increase is now expressed in µg/L rather than as percent of intra-assay variability.

• IGF-I and IGFBP-3 generation appears to be the difference between basal level and level after administration of exogenous growth hormone).

 

total score =

= SUM(points for all 7 parameters)

 

Interpretation:

• minimum score: 0

• maximum score: 7

• A score >= 5 indicates growth hormone receptor deficiency (GHRD).

 

Limitations:

• The assays would need to be standardized to give comparable results.


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