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Updated: Dec 28 2021

Constitutional Growth Delay

  • Snapshot
    • A 1-year-old girl is brought to the pediatrician by her parents for a routine check-up. Her height and weight at the current visit are found to be in the 10th percentile for her age, despite having a birth height and weight in the 50th percentile. A karyotype is obtained at the request of her concerned parents, and is found to be 46,XX. Thyroid function tests reveal TSH and T4 levels within normal ranges.
  • Introduction
    • Overview
      • constitutional growth delay, in which there is slowed linear growth within the first 3 years of life, is the most common cause of short stature and delay of puberty in children
  • Epidemiology
    • Incidence
      • ~15% of children with short stature who are referred for endocrinologic evaluation
    • Demographics
      • males > females
        • may reflect greater proportion of males who are referred for delayed growth
    • Pathophysiology
      • constitutional growth delay affects every organ system
        • delays in growth and sexual development
      • adolescents will have a normal growth spurt and normal adult height
    • Genetics
      • inheritance pattern
        • may be autosomal dominant, autosomal recessive, or X-linked
  • Presentation
    • History
      • usually normal birth weight and height
      • drop in percentiles on growth curve within first 3-6 months of life and up to 3 years of age
      • normal growth velocity resumes by 2-3 years of age
    • Symptoms
      • lagging growth in early childhood
    • Physical exam
      • immature appearance for age
        • may be reflected in body proportions (i.e., upper-to-lower body ratio may be ↑ compared to normal)
  • Imaging
    • Radiograph of the hand and wrist
      • assess skeletal maturation
        • bone age begins to lag behind child's chronologic age during early childhood and may be delayed in adolescence
  • Studies
    • T4 and TSH levels
      • within reference range in constitutional growth delay
      • used to rule out hypothyroidism as causative factor
    • Insulin-like growth factor 1 (IGF-1) and IGF-binding protein 3 (IGFBP-3) levels
      • reflect production of growth hormone
      • used to rule out growth hormone insufficiency as a causative factor
    • Karyotype
      • used to rule out Turner syndrome in girls
  • Differential
    • Cystic fibrosis
      • key distinguishing factor
        • chronic respiratory infections, pancreatic enzyme insufficiency, and other complications
    • Pediatric growth hormone deficiency
      • key distinguishing factor
        • ↓ levels of growth hormone-dependent IGF-1 and IGFBP-3
    • Turner syndrome
      • key distinguishing factor
        • karyotype reveals partially or completely missing X chromosome (45,XO)
  • Treatment
    • Lifestyle
      • reassurance
      • growth measurements at frequent intervals (i.e., every 6 months) to establish a trajectory on a growth curve
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