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Updated: Feb 26, 2026

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Response to Growth Hormone Treatment in a Patient with Insulin-Like Growth Factor 1 Receptor Deletion

Ranim Mahmoud1, Ajanta Naidu2,3, Hiba Risheg1

  • 1Laboratory Corporation of America/Dynacare, Department of Cytogenetics, Seattle, Washington, USA.

Journal of Clinical Research in Pediatric Endocrinology
|July 20, 2017
PubMed

Insights

A child with a deletion in the insulin-like growth factor 1 receptor (IGF1R) gene experienced significant growth after hormone therapy. Early identification and treatment of IGF1R gene deletions are crucial for growth.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Growth restriction is a complex condition with various genetic causes.
  • The insulin-like growth factor 1 receptor (IGF1R) gene plays a critical role in growth regulation.
  • Chromosomal abnormalities can lead to developmental and growth disorders.

Observation:

  • A six-year-old boy presented with short stature, microcephaly, dysmorphic features, and developmental delay.
  • Genetic analysis revealed a terminal deletion of 15q26.2q26.3, encompassing the IGF1R gene, and a terminal duplication of 4q35.1q35.2.
  • The patient's condition was compared with existing literature on IGF1R gene alterations and growth restriction.

Findings:

  • The patient exhibited a significant and positive response to growth hormone therapy.
  • This response suggests a direct link between IGF1R gene function and the observed growth impairment.
  • The combination of deletion and duplication presented a unique genetic profile.

Implications:

  • Early diagnosis of IGF1R gene deletions is vital for timely intervention.
  • Growth hormone therapy can be an effective treatment for select patients with IGF1R gene deletions.
  • Understanding genotype-phenotype correlations in chromosomal abnormalities aids in predicting treatment outcomes.

Keywords:
15q deletion duplication 4q.Growth hormone therapygrowth hormone receptorshort stature

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