SHORT STATURE

 

SHORT STATURE

 

DEFINITION:

Children whose height is equal to or greater than 3 standard deviations (SD) below the mean height for age.

EPIDEMIOLOGY:

  • incidence: ?
  • risk factors:
    • see differential diagnosis

DIFFERENTIAL DIAGNOSIS:

1. Congenital

  • 1. Intrauterine Growth Retardation
    • maternal (drugs, EtOH, infections)
    • placental insufficiency
    • fetal (chromosomal anomalies)
  • 2. Genetic
  • 1. Familial Short Stature
  • 2. Constitutional Short Stature (Delayed Puberty)
  • 3. Chromosomal Disorders
    • Brachydactyly E
    • Kallman's Syndrome
    • Klippel-Feil Anomaly
    • Leri-Weill Syndrome
    • Noonan Syndrome
    • Prader-Willi Syndrome
    • Turner Syndrome
  • 4. Skeletal Dysplasias
    • Achondroplasia
    • Ashyxiating Thoracic Dystrophy
    • Chondroectodermal Dysplasia
    • Hypochondroplasia
    • Metatropic Dysplasia
    • Short Rib-Polydactyly Syndrome
    • Spondyloepiphyseal Dysplasia
    • Thanatophoric Dwarfism
  • 5. Inborn Errors of Metabolism
  • 2. Nutritional

  • 1. Inadequate Intake
  • 1. Mechanical
    • cleft palate, Pierre Robin Anomaly
  • 2. Psychosocial
    • anorexia, deprivation, feeding problems
  • 3. Chronic Systemic Diseases

    4. Endocrine Disorders

  • 1. Hypothyroidism
  • 2. Glucocorticoid Excess
    • endogenous
    • exogenous (asthma, chronic inflammatory diseases)
  • 3. Hypogonadism
  • 4. Growth Hormone Deficiency
  • BACKGROUND:

    1. Normal Growth Phases (4):

    1. 0 -> 1 Year

    • 23-28 cm/year (9-11 inches/year)
    • first growth spurt
    • growth rate is independent of endogenous growth hormone (GH)
    • represents most rapid growth rate but is highly variable
      • SGA may grow at a higher rate than normal
      • LGA may grow at a lower rate than normal
      • crossing of channels may be physiologic

    2. 1 -> 3 Years

    • 7.5-13 cm/year (3-5 inches/year)
    • represents a slowing down of the growth rate

    3. 3 Years -> Puberty

    • 5-6 cm/year (2-2.5 inches/year)
    • represents a steady rate of growth

    4. Adolescence (12-15 years)

    • up to 9-10 cm/year
    • second growth spurt
    • growth rate dependent upon an increased production of adrenal and gonadal hormones
    • M: growth spurt occurs after 1st signs of pubertal onset
    • F: growth spurt occurs before 1st signs of pubertal onset

    2. Midparental Target Height:

    1. Males:

    • (fathers height + [mothers height + 13 cm])/2

    2. Females:

    • (mothers height + [fathers height - 13 cm])/2

     

  • 1 inch = 2.56 cm
  • CLINICAL FEATURES:

    1. Abnormal Growth Rate

    • must plot out growth over time to ascertain the shape of the growth curve
    • significant channeling down
    • slow but consistent falling off of growth curve
    • height >3 SD below the average height for age

    2. Physical

    • gross proportional abnormalities (skeletal dysplasias)
    • dysmorphic features (chromosomal disorders)
    • pubertal status
    • hypothyroidism (dry course hair & skin, slow hair/nail growth)
    • Cushinoid (hypertension, increased weight, acne, thin skin, hirsutism)
    • Growth Hormone deficient (hair and nails)

    INVESTIGATIONS:

    1. Growth Assessment

    1. Stadiometer

    • if <2 years of age - supine
    • if >2 years of age - standing

    2. Growth Charts

    • normal: 0->36 months; 3->18 years
    • others: Trisomy 21 and Turners growth charts

    2. First Line Investigations

    1. Serum

    • CBC - anemia (bone marrow suppression, malabsorption)
    • LFT - AST, ALT, alkaline phosphatase (liver abnormalities)
    • TFT - TSH, T4, T3 (hypothyroidism)
    • RFT - electrolytes, BUN, creatinine
    • amylase

    2. Imaging Studies

    1. Bone Age

    • radiographic determination of the degree of epiphyseal fusion
    • an index of somatic maturation
    • a measure of growth potential

    2. Skull X-Rays

    • gross abnormalities, i.e., space-occupying lesion
    • calcifications in the suprsellar region

    3. Second Line Investigations

    1. Karyotyping

    • to rule out genetic/chromosomal defects

    2. Malabsorption Screen

    • CBC, RBC folate & carotene, antigliadin antibody

    3. Imaging Studies

    1. MRI/CT

    • intracranial pathology
    • pituitary or hypothalamic abnormalities

    4. Hormone Abnormalities

    1. Glucocorticoid Excess

    • 24 hour urinary cortisol >250 ug/day

    2. Growth Hormone Deficiency (GH)

    • normal ICF-1 rules out GH deficiency
    • GH stimulation tests (provocative stimuli):
      • physiologic - basal, exercise
      • pharmacologic - arginine +/- insulin, clonidine + L-Dopa, glucagon, L-Dopa + pro-pranolol
      • abnormal if no rise in growth hormone level after the axis has been stimulated physiologically or pharmacologically

    MANAGEMENT:

    1. Treat Underlying Disorder

    • nutrition for malnutrition
    • malabsorption
    • congenital heart disease
    • hypothyroidism

    2. Reassurance

    • familial short stature
    • constitutional short stature

    3. Constitutional Short Stature

    1. Males

  • 1. Halolestin (fluoxymesterone)
    • an anabolic steroid
    • 5 mg po od x 6 months
    • (may start at 2.5 mg and increase dose to 5 mg at 3 months if poor growth)
    • would expect 2" (5.1 cm) growth in 6 months
    • indications: healthy, epiphyses not fused, age 10 -> teenager
  • 2. Females

  • 1. Estrogen
    • 2.5-5.0 ug po od
  • 4. Growth Hormone Defeciency

    1. GH Replacement Therapy

  • 1. Humatrope (Lilly)
    • recombinant (191 aa)
    • 0.18 mg/kg/wk (0.03 mg/kg/dose)
  • 2. Protropin (Genentech)
    • recombinant (191 aa + Met)
    • 0.3 mg/kg/wk (0.05 mg/kg/dose)
    • contraindicated if the epiphyses are already fused or a tumor is present
  • 2. Moniter

  • 1. Growth
    • expect an increased growth rate (about 3" in 1st year)
    • injection sites
    • stage of puberty (Tanner Stage)
  • 2. Others
    • bone age annually
    • thyroid function tests, CBC, blood sugar q3m for first year then q6m (CBC for small leukemia risk)
    • GH antibodies q12h
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    Pediatric Database - SHORT STATURE

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