Longitudinal growth assessment is essential in child care. Short stature can be recognized only with accurate measurement of growth and critical analysis of growth data. The causes of short stature can be divided into 7 categories:
- Chronic disease
- Familial short stature
- Constitutional growth delay
- Endocrine diseases
- Skeletal diseases
- Genetic syndromes
- CHRONIC DISEASE: Heart failure, kidney failure, renal tubular acidosis, cystic fibrosis, inflammatory bowel disease, malabsorption, recurrence infection, and many chronic diseases lead to growth failure and short stature, and in this case the weight also is affected.
- FAMILIAL SHORT STATURE: The child has normal growth velocity, normal bone age and predicted adult height appropriate to the familial pattern.
- COSTITUTIONAL SHORT STATURE: The child has delayed bone age, family history in positive for 1st or 2nd degree, members have constitutional short stature, delivery weight and height is normal. Growth velocity is normal in the 1st year of life and at 3 years, the child has short stature. Between 1-3 years there will be low growth velocity, delayed puberty, and then finally he will have a normal stature appropriate with predicted adult height.
- ENDOCRINE DISEASES: Growth hormone deficiency may result from disruption of the growth hormone axis in the brain, hypothalamus or pituitary. This dysfunction can be congenital or acquired.
Congenital GH deficiency maybe associated with an abnormal pituitary gland or maybe part of syndrome such as septo optic hypoplasia. Acquired GH deficiency maybe a result of trauma, Histiocytosis, radiation, infection of the pituitary gland.
- Congenital primary hypothyroidism
- Acquired hypothyroidism
- Hypothalamic or pituitary hypothyroidism.
Typical feature of infants with hypothyroidism include large size, umbilical hernia, prolonged jaundice, poor feeding, hypothermia, myxedema, constipation, and increase height to weight ratio.
IGF1 DEFICIENCY: Severe short stature
- Laron dwarfism (GH resistance)
- Genetic defect in the GH receptor gene
- IgF1 gene mutation
PSEUDOHYPOPARATHYROIDISM: Primary resistance to PTH. Patient presents with feature of hypocalcemia, cramping, tetany and seizure. They have obesity, short stature, and skeletal abnormalities.
CUSHING SYNDROME: ACTH – producing pituitary tumor or adrenal tumor.
High cortisol level → Cushing features (obesity, short stature, moon face, large neck, stretch skin mark, hypertension)
- SKELETAL DISEASE: Achondroplasia, osteogenesis imperfecta (blue sclera, fractures). Dysmorphic features present with disproportionate between low segment and high segment of the body.
- GENETIC SYNDROME: Turner syndrome, Noonan syndrome, Silver-Russel syndrome, DiGeorge syndrome, Prader Willi Syndrome, Down syndrome, Shwachman-Diamond Syndrome
- Short stature also can be associated with neglect and child abuse.
DIAGNOSTIC APPROACH FOR SHORT STATURE
- Birthweight and length will identify intrauterine growth retardation.
- Perinatal complication – hypoglycemia, micropenis are suggestive of GH deficiency.
- Any signs of chronic disease (dyspnea, diarrhea, blood in stools, joint pain, recurrent respiratory tract infection)
- Weight gain → Cushing syndrome
- Fatigue, constipation, dry skin → Hypothyroidism
- Multiple systemic congenital abnormalities → Genetic syndromes
- Parental height
- Social history
- Dietary history
- Chronic steroid treatment
- Growth data: Examination of a child’s height over years can provide important clue.
- Growth velocity: Serial measurements plotted on a growth chart can give us an idea about the growth velocity if it’s normal or slow.
- Target height: We can calculate as follows:
GIRLS - [(height of mother & height of father)/ 2] - 6.5 cm
BOYS – [(mothers height & fathers height)/ 2] + 6.5 cm
- A short stature child who is growing close to his target height percentile is likely to have familial short stature.
PHYSICAL EXAMINATION – weight and height
- General physical examination for all the systems to detect any chronic diseases can cause short stature and growth fallen, or multiple systemic dysmorphic feature suggest genetic syndromes.
- Pubertal examination and pubertal stage – pubertal delay is a key for constitutional delay or endocrine disease (hypopituitarism)
BONE AGE: (LEFT HAND AND WRIST XRAY) – bone age delay is constitutional short stature and endocrine disease with short stature.
LABORATORY EVALUATION - If needed according to history and physical examination
- CBC, ESR – urine analysis, liver, kidney function for chronic disease, sweat chloride testing
- GH stimulation test, IGF1, IGFBP-3
- FT4, TSH, ASTH, urine, serum cortisol, dexamethasone suppression test
- MRI for pituitary disease
- Karyotype for genetic syndromes
- It depends on the etiology of the short stature.
- Hormone replacement – surgical treatment for brain or adrenal tumor.
GH replacement is used to treat growth hormone deficiency for children whose epiphyses are not yet fused. GH replacement cause significant increase in growth velocity (10-11) and during first year of treatment.
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