Pathological short stature or linear growth retardation

Specialty: Pediatrics.

Linear growth retardation
low children's size
hypogrowth

Why it occurs

Familial short stature or constitutional delay in growth and development (normal growth variants with prognosis of normal target height or delay in bone maturation that recovers at puberty)
Chronic malnutrition or intestinal malabsorption (undiagnosed celiac disease, inflammatory bowel disease or cystic fibrosis that prevent nutrient absorption)
Endocrinopathies (growth hormone [GH] deficiency, acquired primary hypothyroidism or glucocorticoid excess/Cushing's syndrome)
Chronic systemic diseases (chronic renal failure, cyanotic congenital heart disease or skeletal dysplasias such as achondroplasia)
Specific genetic alterations (Turner syndrome in girls, Noonan syndrome or alterations in the SHOX gene)

Initial workup

Determination of bone age by x-ray of the left hand and wrist (to compare skeletal maturation with chronological age). Complete blood analysis: complete blood count, erythrocyte sedimentation rate (ESR), liver and kidney profile, ionogram, celiac disease screening (anti-tissue transglutaminase IgA antibodies and total IgA), thyroid function (TSH and free T4). Determination of insulinomimic growth factor type 1 (IGF-1) and its transporter protein (IGFBP-3). Karyotype in peripheral blood in all girls with short stature without an explained cause (ruling out Turner Syndrome). Growth hormone stimulation tests (clonidine, arginine, glucagon or insulin) if GH deficiency is suspected, under pediatric endocrinological supervision.

red flags

Short height located below the 1st percentile or more than 3 standard deviations (SD) from the mean for age and sex; persistently slow growth rate (less than 4 cm per year in children between 4 years and puberty); loss of growth lanes crossing two or more major percentiles on the growth chart progressively; obvious body disproportion (extremities very short in relation to the trunk); associated dysmorphic features, delay in psychomotor development or recurrent headache with visual field alterations (suspected tumor of the hypothalamic-pituitary region such as craniopharyngioma).

Standard management

Recombinant human growth hormone or Somatotropin — indicated in confirmed GH deficiency, Turner syndrome, chronic renal failure, children born small for gestational age who do not regain height at 2-4 years, and alteration of the SHOX gene; administered subcutaneously daily before bed, dose individually adjusted by pediatric endocrinologist
Levothyroxine sodium — in case of confirmed hypothyroidism; dose adjusted according to TSH and free T4 levels
Strict gluten-free diet (specific and curative treatment if the cause of the hypogrowth is celiac disease).

Educational guidance for study. It is NOT a prescription recommendation. The actual choice depends on the cause, the patient, and current guidelines.

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Area: Pediatrics
Listed causes: 5
Treatment options: 3

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