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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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