The continuum between GH deficiency and GH insensitivity in children

Area of Science:

• Pediatric Endocrinology
• Growth Hormone Research
• Genetics of Growth Disorders

Background:

• The growth hormone (GH)-IGF-I axis is crucial for normal growth.
• Defects in this axis present a spectrum from severe to mild GH deficiency and GH insensitivity.
• Milder forms often overlap with idiopathic short stature (ISS), complicating diagnosis.

Purpose of the Study:

• To discuss the continuum model of GH-IGF-I axis defects.
• To describe defects causing GH deficiency and GH insensitivity.
• To present a diagnostic algorithm for these conditions and their management with endocrine therapy.

Main Methods:

• Review of existing literature on GH-IGF-I axis defects.
• Discussion of the continuum model plotting GH secretion against GH sensitivity.
• Presentation of a diagnostic algorithm for categorizing growth disorders.

Main Results:

• GH-IGF-I axis defects exist on a continuum, with milder forms overlapping with ISS.
• Extreme cases are typically easier to diagnose than milder, less defined conditions.
• A diagnostic algorithm aids in investigating and categorizing these diverse defects.

Conclusions:

• The continuum model provides a framework for understanding GH-IGF-I axis disorders.
• Accurate diagnosis is essential for appropriate management, including growth-promoting endocrine therapy.
• Further research into milder forms and ISS is needed for improved patient outcomes.