Harvey's Garden

Short stature

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Epidemiology & Etiology

  • Definition: Height (Ht) < 3rd percentile (or > 2 SD below the mean) for age and sex, OR growth velocity < 5 cm/yr in children > 3 yo.
  • Normal Variants (Most Common):
    • Constitutional Delay of Growth and Puberty (CDGP): “Late bloomers.”
    • Familial Short Stature (FSS): Genetically determined short stature.
  • Pathologic Causes:
    • Endocrine: Growth hormone deficiency (GHD), primary hypothyroidism, Cushing syndrome.
    • Systemic/Chronic Disease: Celiac disease, inflammatory bowel disease (IBD), chronic kidney disease (CKD).
    • Genetic/Syndromic: Turner syndrome (45,XO), Down syndrome, Noonan syndrome, skeletal dysplasias (achondroplasia).

Clinical Features

  • Constitutional Delay (CDGP):
    • Normal birth Ht & Wt.
    • Deceleration in growth velocity between 6-36 months, then parallel growth below or at 3rd percentile.
    • Delayed puberty and delayed adolescent growth spurt.
    • Final adult Ht is normal and within target mid-parental Ht.
  • Familial Short Stature (FSS):
    • Normal birth Ht & Wt.
    • Growth curve parallel to and below 3rd percentile.
    • Normal onset of puberty and timely adolescent growth spurt.
    • Final adult Ht is short but consistent with target mid-parental Ht.
  • Pathologic Short Stature:
    • Crossing percentiles downward (decreasing growth velocity).
    • Relative adiposity/obesity (suggests endocrine: GHD, Cushing, hypothyroidism).
    • Microphallus, midline facial defects, neonatal hypoglycemia (suggests congenital GHD).
    • Goiter, cold intolerance, constipation (hypothyroidism).
    • Short webbed neck, cubitus valgus, low hairline (Turner syndrome).

Diagnosis

  • Initial Step: Detailed growth chart evaluation & mid-parental Ht calculation.
    • Mid-parental Ht (Boys): [Father’s Ht + Mother’s Ht + 13 cm (or 5 in)] / 2
    • Mid-parental Ht (Girls): [Father’s Ht + Mother’s Ht - 13 cm (or 5 in)] / 2
  • First-Line Diagnostic Test: Left hand and wrist radiograph for Bone Age (BA).
    • CDGP: BA < Chronological Age (CA) (delayed bone age matches height age).
    • FSS: BA = CA (normal bone age).
    • Pathologic: BA < CA (usually significantly delayed, e.g., hypothyroidism, GHD).
  • Key Labs (to screen for pathologic causes):
    • TSH & Free T4: R/o hypothyroidism.
    • IGF-1 & IGFBP-3: Serum screens for GHD (GH is pulsatile; random GH is useless).
    • Celiac Serology: IgA tissue transglutaminase (tTG) & total IgA.
    • Karyotype: Indicated for all girls with unexplained short stature to r/o Turner syndrome.
    • BMP & Urinalysis: R/o CKD and Renal Tubular Acidosis (RTA).
    • CBC & ESR/CRP: R/o occult IBD or systemic inflammation.
  • Confirmatory/Gold Standard:
    • GH Stimulation Test: Diagnostic for GHD if GH peak is < 10 ng/mL after stimulation (e.g., with clonidine, arginine, or glucagon).
    • Brain MRI: Performed if GHD or pituitary pathology is suspected to r/o craniopharyngioma or septo-optic dysplasia.

Differential Diagnostics

  • CDGP vs. FSS:
    • CDGP has delayed bone age (BA < CA) and delayed puberty.
    • FSS has normal bone age (BA = CA) and normal/on-time puberty.
  • GHD vs. Hypothyroidism:
    • Both present with BA < CA and decreased growth velocity.
    • Hypothyroidism presents with elevated TSH, low FT4, and classic hypothyroid symptoms (constipation, cold intolerance).
    • GHD presents with low IGF-1/IGFBP-3 and abnormal GH stim test.
  • Celiac Disease vs. GHD:
    • Celiac disease presents with poor weight gain before linear growth deceleration (Wt affected > Ht), positive serologies, and microcytic anemia.
    • GHD presents with preserved weight but severely impaired linear growth (Ht affected > Wt).

Management

  1. Reassurance:
    • Indicated for CDGP and FSS. No active medical intervention required if growth velocity is normal.
  2. Recombinant Human Growth Hormone (rhGH):
    • Indications: Documented GHD, Turner syndrome, Noonan syndrome, Prader-Willi syndrome, CKD prior to transplant, and Small for Gestational Age (SGA) infants who fail to catch up by age 2.
  3. Etiology-Specific Treatment:
    • Hypothyroidism: Levothyroxine.
    • Celiac Disease: Strict gluten-free diet (results in rapid catch-up growth).
    • Cushing Syndrome: Surgical resection of ACTH-secreting tumor or adrenal tumor.

Complications

  • rhGH Therapy Adverse Effects:
    • Slipped Capital Femoral Epiphysis (SCFE): Presents as hip/knee pain and limp.
    • Pseudotumor Cerebri (Idiopathic Intracranial Hypertension): Presents as headache, vision changes, papilledema.
    • Gynecomastia and scoliosis progression.
  • Untreated Pathologic Short Stature:
    • Permanent short stature due to premature epiphyseal fusion (especially if diagnosis/treatment is delayed).
    • Psychosocial morbidity and depression.

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