• Clinical science

Tall stature and abnormally rapid growth


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 pathology (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.


  • 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

  1. History
    • Determine midparental height
    • Assess milestones (exclude developmental delay)
  2. Physical examination
    • Accurate serial measurements of individual body areas
      • Length or height
      • Growth velocity
      • Proportional vs disproportional growth
    • Exclude the following:
  3. Further diagnostic measures (if a pathological cause is suspected)

Differential diagnosis

Etiology Characteristic features
Nonpathological Familial/Constitutional tall stature
Endocrine Hyperthyroidism


  • 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
Klinefelter syndrome
Marfan syndrome
Fragile X syndrome (Martin-Bell syndrome)
Sotos syndrome (cerebral gigantism)
Weaver syndrome
47,XYY syndrome and 47,XXX syndrome
Neurofibromatosis type 1


Endocrine disorders


Other causes


Genetic disorders

Beckwith-Wiedemann syndrome

47,XYY syndrome and 47,XXX syndrome

  • Etiology: : excess growth syndrome, which is caused by an additional Y chromosome in males (XYY) and an additional X chromosome in females (XXX)
  • Epidemiology
  • Clinical features
  • Diagnosis
    • The majority of triple X women or double Y men are never diagnosed.
    • Chromosome analysis
  • Treatment
    • Only symptomatic treatment is possible
    • Speech therapy
    • Physical, occupational, and educational therapy
    • Reproductive specialist in case of fertility problems

Other causes