II. Differential Diagnosis

  1. Normal variants
    1. Constitutional Tall Stature
    2. Familial Tall Stature
  2. Endocrine disorders
    1. Growth Hormone excess (GH Secreting tumors, pituitary Gigantism, or Cerebral Gigantism or Soto Syndrome)
    2. Obesity
    3. Precocious Puberty
    4. Congenital Adrenal Hyperplasia (Untreated, pubertal)
    5. Hyperthyroidism (Thyrotoxicosis)
  3. Genetic disorders - disproportionate overgrowth
    1. Marfan Syndrome
    2. Homocystinuria
    3. Beckwith-Wiedemann Syndrome
    4. Klinefelter Syndrome
  4. Genetic disorders - proportionate overgrowth
    1. Fragile X Syndrome
    2. Cerebral Gigantism (Sotos Syndrome)
    3. Weaver Syndrome

IV. Labs: Specific

  1. Insulinlike Growth Factor 1 (IGF-1) - consult local endocrinology
  2. Thyroid Stimulating Hormone (Hyperthyroidism)
  3. Amino Acid screen (Homocystinuria)
  4. Chromosome Karyotype (Klinefelter Syndrome, XXY in males)
  5. Glucose (Beckwith-Wiedemann)
  6. FSH, LH, Serum Testosterone, 17-Hydroxyprogesterone (Precocious Puberty, Congenital Adrenal Hyperplasia)

V. Imaging

  1. Bone Age XRay

VI. Evaluation

  1. Indications for Tall Stature evaluation
    1. Height > 2 SD above mean for age
    2. Projected height >2 SD above Midparental Height
  2. Normal exam, Bone Age and no dysmorphic features
    1. Constitutional Tall Stature
    2. Familial Tall Stature (consistent with Midparental Height)
  3. Normal exam without dysmorphic features, but with accelerated Bone Age, and recent growth spurt
    1. Obesity
    2. Precocious Puberty (early sexual characteristics)
    3. Growth Hormone excess
    4. Hyperthyroidism
  4. Dysmorphic features and proportionate growth
    1. Fragile X Syndrome
    2. Cerebral Gigantism (Sotos Syndrome)
    3. Weaver Syndrome
  5. Dysmorphic features and dysproportionate growth
    1. Marfan Syndrome
    2. Homocystinuria
    3. Beckwith-Wiedemann Syndrome
    4. Klinefelter Syndrome

VII. Management

  1. Idiopathic Tall Stature
    1. No intervention needed
    2. Older methods have fallen out of favor
      1. High dose sex Hormones promote Growth Plate closure, but have significant adverse effects
      2. Growth Plate destruction (via surgery) is controversial
  2. Pituitary Gigantism
    1. Growth Hormone suppression (e.g. Octreotide, pegvisomant)

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