Diagnosing Growth Hormone Deficiency in Children — Testing, Tools, and Decision-Making

This episode walks through the diagnostic workup for suspected GHD in pediatric patients, highlighting the strengths and limitations of available tools.

Dr. Yang begins by underscoring the importance of history and physical examination. A declining height velocity, regardless of absolute stature, is a key trigger. The workup must go beyond GHD — Drs Alter and Yang both recommend ruling out celiac disease, Crohn’s disease, systemic illness, and thyroid dysfunction before attributing growth failure to GHD.

In terms of lab testing, IGF-1 has approximately 70% sensitivity and specificity for pediatric GHD — superior to its utility in adults, but still imperfect. A low IGF-1 must be interpreted in context: underweight children or those losing weight can have low IGF-1 independent of GHD. IGFBP-3 is often co-ordered.

The panel discusses the growth hormone stimulation test (GHST) in depth. Approximately 30% of normal children will fail a GHST — meaning false positives are common. Two failed stimulation tests using different agents are typically required for a biochemical diagnosis.

In the next episode, “Growth Hormone Deficiency in Adults — Presentation, Quality of Life, and Diagnostic Challenges,” the panel shifts focus to how GHD manifests differently in adult patients and the significant barriers to timely diagnosis.