Short stature

The potential causes of short stature in children are broad ranging, and therefore a careful history and examination are essential to narrow down the possibilities.

Possible causes include:

Genetic short stature
Constitutional delay in growth and puberty
Dysmorphic syndromes
Endocrine disorders
Chronic diseases
Psychosocial deprivation.

An endocrinopathy is more likely when there is evidence, or suspicion, of multiple pituitary hormone abnormalities or of an intra-cranial lesion. Relevant neonatal history may include hypoglycaemia or microphallus.

Initial assessment should include:

Detailed history, including determination of when the child’s growth started to falter.
Careful family history, measurements of both parents and determination of the mid-parental centile.
Examination should include pubertal staging if age-appropriate, and description of any dysmorphic features or body disproportion.

Who to refer:

Severe short stature = height below the 0.4th centile
Height more than 2 centile spaces below the mid-parental height
Downwards crossing of more than 1 height centile in 1 year, in a child aged 2 years or over
Children who may be candidates for growth hormone therapy due to one of the following indications:
- small for gestational age without catch-up by age 4 yrs
- chronic renal disease and short stature
- syndromic causes of short stature including Turner’s syndrome.

If blood investigations are undertaken prior to referral, please consider: FBC, U&Es, LFTs, TFTs, iron studies, vitamin D, coeliac screen, IGF1. Gonadotrophins, oestradiol, testosterone and karyotype may be appropriate depending on the child’s age and the clinical situation.

Who not to refer:

Children who do not fulfil the clinical criteria listed above. Most commonly these are children whose height is within the mid-parental centile spread. Occasionally this may be due to a relevant inherited cause of short stature, and these children can be discussed with paediatric endocrinology.