• Clinical science

Tall stature and abnormally rapid growth

Summary

Tall stature is defined as a height of more than 2 standard deviations above the population mean or exceeding the 97th percentile for age and sex. In most cases, tall stature represents an acceptable normal variation in growth. However, tall stature can also be the result of an underlying disorder (i.e., endocrine or genetic abnormalities). Differentiating between normal or pathological growth variations involves a thorough medical history and clinical examination. Bone age tests, karyotyping, and endocrinological tests can confirm the diagnosis of a pathological cause.

Overview

  • Definition: A height of more than 2 standard deviations above the population mean or exceeding the 97th percentile on the normal growth curve for age and sex.
  • Most tall children do not have a pathological cause.

Evaluation of growth

Etiology of tall stature

Etiology of tall stature
Etiology Characteristic features
Nonpathological Familial/Constitutional tall stature
Endocrine Hyperthyroidism

Obesity

  • BMI
  • Slightly advanced bone age
  • Modest overgrowth
  • Early onset of puberty
  • Almost normal final height
Pituitary gigantism (growth hormone excess)
  • Coarse facial features, frontal bossing, prognathism
  • Tumor mass symptoms: headaches, visual impairment
  • ↑ Serum IGF-1
  • GH after oral glucose test
Precocious puberty
  • : Breast development before 8 years
  • : Testicular enlargement before 9 years
  • Abnormal LH, FSH, estradiol, testosterone, 17 alpha-hydroxyprogesterone, BHCG levels
Genetic Beckwith-Wiedemann syndrome
Homocystinuria
Klinefelter syndrome
Marfan syndrome
Fragile X syndrome
Sotos syndrome (cerebral gigantism)
Weaver syndrome
47,XYY syndrome and 47,XXX syndrome
Neurofibromatosis type 1

References:[2][3][4][5][6]

Endocrine disorders

Gigantism

Other causes

References:[7]

Genetic disorders

Beckwith-Wiedemann syndrome [8]

Sotos syndrome (cerebral gigantism) [10]

  • Epidemiology: 1/10,000–14,000 newborns [11]
  • Etiology: autosomal dominant mutation in the NSD1 gene on chromosome 5 [10]
  • Symptoms [10]
    • Tall stature
    • Macrocephalus
    • Facies
      • High forehead
      • Elongated face
      • Hypertelorism
      • Pointed chin
      • Receding hairline
    • Psychomotor retardation
    • Hypotonia
    • Delays in achieving milestones (e.g., walking, talking, clumsiness)
  • Diagnosis
    • Usually clinical
    • DNA studies (5q35 microdeletions and partial NSD1 deletions in 10–15% of cases)
    • Prenatal diagnosis possible
  • Treatment
    • Only symptomatic treatment is possible.
    • Multiprofessional approach
  • Course
    • Normal growth rate from 3–5 years of age (only moderately increased adult height)
    • Permanent cognitive-developmental impairments are common.

Other causes