Short stature and poor growth

Linear growth has phases. Infancy is strongly influenced by nutrition and the intrauterine environment, childhood by growth hormone and thyroid hormone, and puberty by sex steroids interacting with growth hormone. Children may shift toward their genetic channel in the first 2–3 years. After that, crossing down deserves explanation, allowing for pubertal timing and measurement error.

History begins with birth gestation, weight and length; neonatal hypoglycaemia, jaundice and midline defects; nutrition; chronic gastrointestinal, respiratory, cardiac, renal and inflammatory symptoms; infections; medication, especially prolonged glucocorticoids; development; headaches and vision; sleep; and psychosocial context. Record the age and pattern of parental puberty as well as measured heights. Ask privately about food access, restrictive eating and emotional wellbeing when appropriate.

Plot weight, height and BMI together. Low weight or BMI with later linear slowing suggests energy deficit, malabsorption or systemic disease. Endocrine disorders such as hypothyroidism, growth-hormone deficiency or glucocorticoid excess often slow height while weight is relatively preserved. Obesity with poor height velocity is particularly concerning; simple nutritional obesity generally increases or preserves linear growth.

Examination assesses accurate height and weight, head circumference when relevant, arm span, upper-to-lower segment or sitting height, symmetry and deformity. Look for Turner features, SHOX-related mesomelia or Madelung deformity, skeletal dysplasia, syndromic facies, webbed neck, cardiac murmur, goitre, Cushingoid features, abdominal disease, chronic respiratory signs and neurological or visual abnormality. Record Tanner stage with consent and appropriate chaperoning.

Systemic causes include coeliac disease, inflammatory bowel disease, chronic kidney disease, congenital heart disease, chronic lung disease and chronic inflammation. Nutritional insufficiency may reflect feeding difficulty, food insecurity, eating disorder or neglect. Prolonged systemic glucocorticoids suppress growth. History and examination determine whether broad screening or urgent organ-specific investigation is needed.

Endocrine causes include hypothyroidism, growth-hormone deficiency, Cushing syndrome and disorders of puberty. Growth-hormone deficiency may follow congenital pituitary disease, tumour, surgery or irradiation and can coexist with hypoglycaemia or other pituitary deficits. Acquired headache, vomiting, visual change or polyuria makes intracranial imaging urgent. An IGF-1 value supports specialist reasoning but cannot diagnose or exclude deficiency alone.

Genetic and skeletal causes include Turner syndrome, SHOX deficiency, Noonan syndrome, trisomy 21 and skeletal dysplasias. Disproportion and dysmorphism guide referral, but Turner syndrome can present only as short stature or delayed puberty. Children born small for gestational age often catch up; persistent poor growth beyond early childhood is a recognised specialist growth-hormone indication when NICE and licensing criteria are met.

First-line investigation after confirmed abnormal auxology is targeted screening. FBC and inflammatory markers assess anaemia or inflammation; renal, liver and bone profiles identify organ or mineral disease; TSH and free T4 assess thyroid; tissue transglutaminase IgA with total IgA screens for coeliac disease after gluten exposure; urinalysis detects renal disease. Add ferritin, stool markers, CK, karyotype or genomic tests according to findings. Normal screening does not override persistently poor velocity.

A left hand and wrist radiograph estimates bone age. Marked delay can occur in constitutional delay, undernutrition, hypothyroidism and growth-hormone deficiency; normal bone age with stable low height favours familial short stature. It is observer- and method-dependent and adult-height predictions are estimates. Specialist assessment integrates auxology, IGF-1, puberty, bone age and, when justified, stimulation tests and pituitary MRI.

Management treats the cause and protects wellbeing. Optimise nutrition without coercion, treat coeliac, thyroid, inflammatory or renal disease, review growth-suppressing medicines and provide school support for bullying or distress. Do not promise a final height. Somatropin is recommended by NICE for defined diagnoses including growth-hormone deficiency, Turner syndrome, Prader–Willi syndrome, chronic renal insufficiency, persistent growth failure after small-for-gestational-age birth and SHOX deficiency, subject to specialist criteria.

Response is judged by reliable velocity and change in height standard-deviation score, not a single centimetre gain. Review adherence, injection technique, thyroid function, puberty, nutrition and diagnosis if response is poor. Monitor for headache or visual symptoms suggesting intracranial hypertension, hip or knee pain suggesting slipped upper femoral epiphysis, scoliosis progression, glucose effects and disease-specific risks. Stop rules depend on indication, response, growth completion and specialist protocol.