Short stature is defined by an extreme measurement (less than 1st percentile) on a single measurement, or by evidence of marked downward percentile crossing over time.
Diagnosis of the above should be made using WHO growth charts.
Establishing the cause of the short statue needs to be considered in the clinical evaluation and investigations (see Management below). Causes of short stature to consider include:
- constitutional delay
- hereditary short stature
- nutritional (incl. malabsorption)
- environmental deprivation
- endocrine (growth hormone deficiency, hypothyroid, Cushing, CAH, hypopituitarism, etc.)
- skeletal dysplasias
- chronic diseases
- chromosomal abnormalities
- iatrogenic (steroids, radiotherapy)
- Growth is a sensitive indicator of a child’s health, nutritional status, psychosocial environment and genetic background.
- Assess height for children under 2 years lying down.
- Correct growth measurements for prematurity for the first 2 years of life.
- For children over 2 years of age a wall-mounted stadiometer is best
- Pubertal staging should be assessed as part of growth assessment.
- Weight and BMI should also be calculated
- A wide range of possible causes must be considered in a child with short stature including normal variants (such as constitutional delay), chronic disease, endocrine disease and skeletal dysplasias.
- gestational age
- type of feeding
- nutrition
- history or symptoms of chronic illness
- developmental milestones
- psychosocial environment
- heights and times of puberty of siblings and parents
- examine for dysmorphic features, signs of chronic illness, skeletal disproportion, midline defects, visual fields and fundi as well as thyroid exam.
- full blood count and film, LFT, ESR (chronic disease)
- electrolytes and renal function, calcium & phosphate
- coeliac serology
- thyroid function tests
- karyotype in all girls (Turner’s syndrome) +/- genetic analysis
- urinalysis
- IGF-1 ( if growth hormone deficiency is suspected)
- 25-OH vitamin D and alkaline phosphatase (if from high risk groups)
- LH, FSH, oestradiol and testosterone (if pubertal delay)
- bone age x-ray
- MRI brain (if pituitary abnormalities suspected)
Management is focussed on the cause of short stature, with the option of growth hormone or other hormone therapies reserved for selected cases only after sub specialist endocrinology assessment.
- Paediatrician
- All children with short stature should be referred to paediatric outpatient services for a full paediatric assessment.
- Information to bring to any appointments:
- recent school reports and any written reports from teachers
- any testing (cognitive, learning, etc)
- behavioural questionnaires (if done)
- health records with growth charts from GP or Green book
- Dietitian
- A referral to dietetics services is indicated if the short stature is thought likely secondary to poor nutrition.
- Endocrinologist
- Subspecialist referral will generally be made after assessment by a general paediatrician if an endocrine cause is suspected.
- Other resources