Synopsis
Distinguish healthy familial or maturational short stature from nutritional, systemic, endocrine, genetic and skeletal disease using accurate growth velocity, genetic target, proportion, focused investigation and timely specialist management.
- Short stature usually means height below roughly the 2nd centile or 2 standard deviations, but trajectory and genetic target determine clinical significance.
- First-line assessment is repeat calibrated height plotted serially, with growth velocity, weight and BMI trajectory and measured parental heights.
- Familial short stature has short parents, height compatible with target, normal velocity and bone age close to chronological age.
- Constitutional delay of growth and puberty usually has normal velocity, delayed bone age and a family history of late puberty, with later catch-up.
- Weight faltering before height suggests inadequate intake or systemic disease; preserved or increased weight with slow height suggests an endocrine cause.
- Examine body proportions, arm span, sitting height, dysmorphism, thyroid, abdomen, skin, heart, neurology and pubertal stage.
- Screening tests are guided by history but commonly include FBC, inflammatory markers, renal, liver and bone profile, thyroid function, coeliac serology with total IgA and urinalysis.
- In any girl with otherwise unexplained short stature, consider Turner syndrome testing even when classic physical features are absent.
- Bone age is supportive, not diagnostic: it is often delayed in constitutional delay, endocrine disease and chronic illness but near chronological age in familial short stature.
- IGF-1 is not a stand-alone growth-hormone test; nutrition, liver disease, thyroid status, age and puberty influence it.
- Growth-hormone stimulation testing and pituitary MRI are specialist tests; there is no single screening ‘gold standard’ that replaces auxology and clinical assessment.
- Somatropin is specialist treatment only for defined indications and requires growth, puberty, thyroid, glucose, adverse-effect and adherence monitoring.
Key red flags
Falling height centiles or low height velocity is more concerning than a stable low centile and requires confirmation with serial accurate measurements.
Height more than 2 centile spaces below the mid-parental centile suggests growth outside genetic potential.
Disproportion, dysmorphism, microcephaly or macrocephaly, congenital anomalies or a short girl without explanation raises a genetic or skeletal diagnosis.
Headache, vomiting, visual-field symptoms, polyuria, polydipsia or other pituitary deficits can indicate a hypothalamic–pituitary lesion.
Chronic diarrhoea, abdominal symptoms, respiratory disease, inflammatory symptoms, renal signs, restrictive intake or safeguarding concern indicates systemic or nutritional disease.
Delayed or arrested puberty, or growth acceleration with precocious puberty, requires endocrine evaluation rather than simple observation.
Investigation priorities
Distinguish stable short stature from active growth failure.
Determine whether growth is compatible with genetic potential.
Management branches
A child appears short or has a low recorded height.
- Repeat height with calibrated technique, retrieve previous data and plot weight, height and BMI on the correct chart.
- Calculate velocity from reliable measurements and obtain measured parental heights and puberty history.
- If velocity, target comparison and examination are reassuring, monitor at an interval long enough to detect real change.