ESPE Abstracts

Introduction: Growth Hormone Deficiency (GHD) with concomitant IGF1 resistance presents a complex diagnostic challenge, often featuring a constellation of growth, developmental, and neurologic findings. This case report presents a 6-year-old female with short stature, speech delay, and an abnormal genetic microarray indicative of IGF1 resistance, contributing to a unique clinical presentation.

Case Presentation: I.N., a 6-year-old girl with a history of speech delay and mild Global Developmental Delay (GDD), presented with isolated speech delay, mild cognitive delay, and normal motor development. Clinical assessment revealed no evidence of seizures, encephalopathy, sleep, or social relation issues. Vitals were within normal limits, and physical examination showed no motor difficulties, normal coordination, and gait. The heart exam was normal. Growth parameters indicated a Height Standard Deviation Score (HtSDS) of -2, with a slow linear growth velocity (GV SDS) of -1 SD for the past three years and a Body Mass Index (BMI) of -1SD. Endocrine evaluation revealed an IGF1 level of +1.8 SD with normal thyroid function, bone age delayed by one year relative to chronological age, and no signs of puberty.

Genetic Findings: Genetic analysis identified a 3335 mbp interstitial loss in 15q26.1, encompassing the IGF1R gene, critical for growth and development. Literature suggests that haploinsufficiency of the IGF1R gene correlates with growth deficiencies observed in patients with distal deletions of 15q25-26. Our patient's phenotype, including pre- and postnatal growth retardation, aligns with reported cases, supporting a role for IGF1R in her clinical presentation.

Conclusion: This case emphasizes the need for an integrated approach combining genetic, endocrine, and developmental assessments to manage and understand the full spectrum of GHD and IGF1 resistance.

Keywords: Growth Hormone Deficiency, IGF1 Resistance, Speech Delay, Global Developmental Delay, Genetic Microarray, 15q26.1 Deletion.