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, see RCPCH Growth Charts .
- 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.
Please include child’s current weight and height, and parents’ heights if possible. We can plot these on Trak to determine severity and appropriate timing of review.
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. We are happy to perform these tests when children are seen in clinic.
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 medical paediatrics. This can be done by submitting a referral as below, asking for advice only or advice / review.
How to refer:
Edinburgh, East & Mid Lothian: Refer via Sci-Gateway (Royal Hospital for Children and Young People > General Medicine > LI Basic Sign Referral)
West Lothian: Refer via Sci-Gateway (St John’s Hospital > Paediatrics > LI Basic Sign Referral)
The Scottish Paediatric Endocrine Group has a national guideline for Short Stature, which can be accessed via this link:
SPEG Guidelines – Scottish Paediatric Endocrine Group
The RCPCH growth charts contain guidance on determining the mid parental target centile, and spread: RCPCH Growth Charts
NICE indications for growth hormone replacement:
