Paediatrics: Short stature

2021-03-03 12:00 AM

Defined as a height 2 SDs or more below mean for the population.

Short stature

Defined as a height 2 SDs or more below mean for the population. On a standard growth chart, this represents a height below the 2nd centile. Note: abnormalities of growth may be present long before height falls below this level and can be identified much earlier by monitoring growth velocity and observing a child’s height crossing centile lines plotted.

Causes of short stature

The most common cause is familial, where either one or both parents will also be short. Height correlates well with parental height and is probably of polygenic inheritance, but it should be noted that short parents may have a dominantly inherited growth disorder.

Assessment

Antenatal history

Pregnancy illness/drugs/complications

Perinatal/infancy history

  • Gestational age and complications
  • Birth weight (length and head circumference)
  • Feeding and weight gain

Past medical

Chronic asthma

Drug history

Corticosteroids

Systematic enquiry

Headaches/visual disturbance

Growth history

Examine previous growth records if available

Neurodevelopmental

  • Developmental delay.
  • School performance.

Family history

  • Short stature/pubertal delay.
  • Endocrine disease.

Examination

  • Measure height; weight; head circumference.
  • General systems examination.
  • Puberty (Tanner) staging.
  •  Observe for goitre; dysmorphic features; malnutrition.
  • Assess growth velocity over (a minimum of) 6-monthly intervals.

Measure the parent’s height and calculate MPH and family height target.

Investigations

The following baseline screening tests should be carried out:

  • U&E (renal function).
  • FBC and CRP (chronic disease/inflammation).
  • Calcium and phosphate (bone disorder).
  • Karyotype (chromosomal abnormalities, especially Turner’s syndrome).
  •  Thyroid function tests.
  • Serum IGF-I (and IGFBP-3) (GH deficiency).
  • Coeliac disease antibody screen.
  • Urinalysis.

Where clinically indicated:

  • Bone age X-ray.
  • GH provocation test.

Management

This will depend on the underlying cause. The diagnosis of a child with short stature is often a shock to the family, and they should be offered detailed, reliable information about their child’s condition and informed where to get additional support and advice. In the UK the Restricted Growth Foundation (www.restricted-growth.co.uk) is a good resource. Familial short stature does not require any specific treatment.