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Short stature and growth
The key question in a short child is not "how short" but "how fast is he growing": a normal growth velocity points to a normal variant (familial or constitutional delay), and falling across the chart demands a search for disease.
Why it matters in the exam
The exam shows a growth chart, the parents' heights and the bone age, and asks to separate familial short stature, constitutional delay of growth and puberty, and a pathological cause. A key clue: the bone age matches the chronological age in familial short stature and lags in constitutional delay. A second clue: if weight fell before height — a nutritional or gut cause (coeliac disease, IBD); if height fell while weight was preserved or rose — an endocrine cause (hypothyroidism, growth hormone deficiency, Cushing).
Every unexplained short girl needs a karyotype to exclude Turner syndrome, even without external features. Basic screening tests include a blood count, inflammatory markers, coeliac antibodies (tTG-IgA with total IgA), TSH, IGF-1, kidney function and a bone age. Growth hormone deficiency is diagnosed with two stimulation tests and treated with growth hormone given by daily or weekly injection.
The target height is calculated from the parents' heights: the average of the father's and mother's heights, plus 6.5 cm for a boy or minus 6.5 cm for a girl. A child expected to end far from the target height, even when growing at a normal rate, deserves a work-up. In toddlers, crossing centiles in the first two years can be normal as the child "settles" onto his genetic centile.
Key points
- Growth velocity matters more than a single height.
- Familial: normal velocity and matching bone age; constitutional: normal velocity and delayed bone age.
- Weight falls first — gut or nutrition; height falls first — hormones.
- Every unexplained short girl — karyotype for Turner.
- Growth hormone deficiency is diagnosed with two stimulation tests.
Summary table
| Condition | Growth velocity | Bone age | Pointing signs |
|---|---|---|---|
| Familial short stature | Normal, along a low centile | Matches age | Short parents; final height in line with the target height |
| Constitutional delay | Normal after slowing in the first years | Delayed | Late puberty, family history of "late bloomers"; normal final height |
| Nutritional or gut cause | Falling | Delayed | Weight falls before height; coeliac disease, IBD |
| Endocrine cause | Falling | Delayed | Height falls while weight is preserved or rises; hypothyroidism, growth hormone deficiency, Cushing |
| Turner syndrome | Gradually falling | Matching or delayed | Every unexplained short girl — karyotype |
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Sources
- Nelson Textbook of Pediatrics, 22nd edition (2024) — Short Stature; Hypopituitarism
- Pediatric Endocrine Society Guidelines for Growth Hormone and IGF-I Treatment in Children and Adolescents, 2016 — Growth hormone deficiency and idiopathic short stature
Sources are given for further reading; the text is written afresh and not copied from them.
Reviewed by the Examqo AI Professor · 2026-11-02. The text may contain errors; when in doubt, check the source.