Short Stature

Aka: Short Stature, Short Stature for Age, Delayed Linear Growth, Delayed Growth, Growth Delay

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II. Exam: General

  1. See Weight Measurement in Children
  2. See Height Measurement in Children
  3. See Body Mass Index
  4. See Weight for Height Age
  5. See Height Velocity
  6. See Midparental Height
  7. See Dysmorphic features in Congenital Dysorders

III. Exam: Findings suggestive of Collagen bone disease

  1. Examples
    1. Osteochondrodysplasia
    2. Metaphyseal dysostosis
  2. Extremely Short
    1. Disproportionate shortness ("Dwarf")
      1. Arms and legs short compared with trunk
    2. Proportionate shortness
      1. "China Doll" Shortness
  3. Abnormal measurements
    1. Linear Growth Velocity
    2. Tanner Staging (See Tanner Staging)
    3. Arm Span
    4. Upper to Lower Segment Ratio

IV. Exam: Term Newborn

  1. Micropenis (size <2.8 cm stretched)
    1. Assess for Luteinizing Hormone deficiency
    2. Associated with Panhypopituitarism
  2. Congenital Nystagmus
    1. Assess for septo-optic dysplasia
    2. Associated with Growth Hormone Deficiency
  3. Small for Gestational Age
    1. Catch-up growth results in normalization of growth curve by 2 years old in 90% of cases
    2. Pathologic Delayed Growth may be considered if no catch up growth is evident in the first 6 months of life
    3. SGA Infants may have delayed catch-up growth in 10% of cases
    4. SGA Preterm Infants may not attain normal height for age until age 4 years

V. Diagnostics

  1. Bone Age Films
  2. Formal dental exam for dental age

VI. Labs: Routine

  1. Hepatic and Renal Disease
    1. Urinalysis
    2. Chemistry panel (Chem8)
    3. Liver Function Test
  2. Anemia Evaluation
    1. Complete Blood Count
    2. Serum Iron and Ferritin
  3. Inflammatory Bowel Disease and Celiac Sprue
    1. Erythrocyte Sedimentation Rate (ESR)
    2. C-Reactive Protein
    3. Tissue transglutaminase antibodies
  4. Endocrine (Growth Hormone Deficiency, Hypothyroidism)
    1. Thyroid Stimulating Hormone
    2. Insulinlike Growth Factor 1 (IGF-1) - consult local endocrinology
  5. Turner Syndrome
    1. Karyotype
    2. Follicle Stimulating Hormone (FSH)

VII. Differential Diagnosis (with specific related evaluation)

  1. Normal tests, evaluation and Bone Age Films
    1. Familial Short Stature
    2. Idiopathic Short Stature
  2. Normal tests and evaluation with a minimally delayed Bone Age Film
    1. Constitutional Short Stature
  3. Medication causes
    1. Chronic Corticosteroids
    2. Stimulant Medications for Attention Deficit Disorder
    3. Anticonvulsants
  4. Abnormal tests or evaluation with a normal Bone Age Film (requires further evaluation)
    1. Iron Deficiency Anemia
    2. Inflammatory conditions
  5. Dysmorphic features present - Refer to geneticist and endocrinologist
    1. Down Syndrome
    2. Noonan Syndrome
    3. Prader-Willi Syndrome
    4. Russell-Silver Syndrome
    5. Skeletal Dysplasia
    6. Turner Syndrome
    7. Fetal Alcohol Syndrome
    8. Achondroplasia
  6. Abnormal labs or evaluation with delayed Bone Age imaging
    1. Gluten-sensitive Enteropathy (Celiac Disease)
      1. Tissue transglutaminase antibodies
      2. Antiendomysial Antibody titers
    2. Inflammatory Bowel Disease
      1. Erythrocyte Sedimentation Rate (ESR)
      2. C-Reactive Protein (CRP)
      3. Endoscopy with biopsy
    3. Chronic Renal Insufficiency
      1. Urinalysis
      2. Serum Creatine and GFR estimate
    4. Cystic Fibrosis (typically age <2 at diagnosis)
      1. Sweat Chloride testing
    5. Cushing Disease
      1. 24 hour Urine Cortisol
    6. Growth Hormone Deficiency (acquired or congenital)
      1. IGF-1
      2. IGF-binding Protein #3
    7. Hypothyroidism
      1. Thyroid Stimulating Hormone (TSH)
      2. Free T4
    8. Vitamin D Deficiency (Rickets)
      1. 25-hydroxyvitamin D
      2. 1,25-dihydroxyvitamin D
      3. Parathyroid Hormone

VIII. Evaluation

  1. Indications for evaluation
    1. Height >2 SD below mean for age (or <3rd percentile)
    2. Growth Velocity <5 cm (2 in) per year
    3. Projected height <2 SD (10 cm) below Midparental Height
  2. Approach
    1. Determine if growth is truly delayed (see indications above)
      1. See Calculation of Growth Delay
    2. Determine when Growth Delay began (in-utero, perinatal or childhood)
      1. See Growth Delay Onset Determination
    3. Determine cause if possible
      1. Only 5% of Short Stature referrals have an identifiable pathologic cause
      2. Most common identifiable causes
        1. Growth Hormone Deficiency
        2. Hypothyroidism
        3. Celiac Sprue
        4. Turner Syndrome (girls)
  3. Gastrointestinal symptoms
    1. Consider Celiac Sprue or Inflammatory Bowel Disease
    2. Pediatric Gastroenterology Referral
  4. Endocrinology symptoms
    1. Consider Cortisol excess or Hypothyroidism
    2. Pediatric Endocrinology Referral
  5. Dysmorphic proportional
    1. Consider Genetic Syndromes (e.g. Down Syndrome, Turner Syndrome)
  6. Dysmorphic non-proportional
    1. Consider chondrodystrophy
  7. Normal Growth Velocity (>5 cm/year) and delayed Bone Age
    1. Constitutional Growth Delay (or Delayed Puberty)
  8. Normal Growth Velocity (>5 cm/year) and normal Bone Age, with projected height consistent with Midparental Height
    1. Familial Short Stature
  9. Decreased Growth Velocity (<5 cm/year) and delayed Bone Age (with normal or increased weight)
    1. Consider endocrine conditions

IX. Management: Pediatric Endocrinology Referral Indications

  1. Children with IUGR
    1. Failure to catch up to their growth curve percentile by 2 years old
  2. Failure to follow expected growth
    1. Height >3 SD below mean height for age
    2. Growth Velocity <5 cm (2 in) per year
    3. Projected height >2 SD (10 cm or 4 inches) below Midparental Height
    4. Bone Age >2 SD below Chronological age
  3. Delayed onset of Puberty
    1. Girls >13 years old
    2. Boys >14 years old
  4. Conditions indicating treatment with recombinant Growth Hormone
    1. Growth Hormone Deficiency
    2. Turner Syndrome
    3. Chronic Renal Failure
    4. Prader-Willi Syndrome
    5. Small for Gestational Age
    6. Noonan Syndrome
    7. Short Stature homeobox-containing gene deficiency
    8. Idiopathic Short Stature

X. References

  1. Barstow (2015) Am Fam Physician 92(1): 43-50 [PubMed]
  2. Cheetham (2014) Arch Dis Child 99(8): 767-71 [PubMed]
  3. Nwosu (2008) Am Fam Physician 78(5): 597-4 [PubMed]

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