Dr Emma Walker (ST2 Paediatrics)

Reviewed by Dr Sujatha Gopal (ST7 Paediatric Endocrinology) and Dr Perveen Sultana (Consultant Paediatrician with Endocrine interest)

Do you remember that time when you were not tall enough to ride on a fairground ride? Or peer over the shoulders of someone in front of you in a crowd? For most, this is a problem we grow out of, so at what point should we worry about a child being short? 

Short stature is often referred to the general paediatric and endocrine clinic when parents notice their child is not growing as fast as their peers or as quickly as other siblings.

In this piece, we will look at how to approach short stature, what you as a junior doctor can do and, importantly, answer whether any height may be caught-up.

Definition of short stature: height that is 2 or more standard deviations below the population mean (i.e. below the second centile).

Let’s talk about Maisy. 

Maisy is 5 years old and 95 cm tall. Her parents are worried about her height – she’s just started school and is the smallest in the class.

Taking a good history 

The first, and arguably, most important step is taking a good history. They tell us in medical school that making a diagnosis is 90% history so here’s some of the important things to note.

History: What do you need to know?:

• When did anyone notice a problem with height? 
• Any weight loss/gain? 
• Diet and appetite. 
• GI symptoms – any diarrhoea, constipation, abdominal pain.
• If older, ask about pubertal history. 

Currently: Maisy has always been shorter and slimmer than her brother, Eddie, despite having a ferocious appetite. Her parents have noticed since she has started school, she is definitely the smallest of the class. Maisy eats well, a varied diet with plenty of vegetables and she LOVES cheese. She occasionally has some diarrhoea, but no blood or mucus. Maisy is very active – she is always running around and playing with her brother. 

Past medical history: What do you need to know?:

• Medical history of chronic illness. 

Maisy has asthma and eczema. Her immunisations are up-to-date.

Medication: What do you need to know?:

• Drug history, eg. long term steroid use, including corticosteroid inhalers, and stimulants eg. methyphenidate.

Maisy takes beclometasone regularly and salbutamol when required for her asthma and emollients for her eczema. She has no known drug allergies

Pregnancy: What do you need to know?:

• Maternal health during pregnancy
• Medication during pregnancy
• Smoking, alcohol and drug abuse

Maisy’s mum was fit and well, she did not take any medications and did not smoke. 

Neonatal history: What do you need to know?:

• Gestation at birth
• Birthweight
• Any neonatal complications

Maisy was born at 30 weeks gestation, weighing 820g (2nd centile). She was admitted to the NICU for respiratory and feeding support and was discharged at 38 weeks correction. There were no other complications 

Social history: What do you need to know?:

• Social circumstance at home 
• Be aware of neglect and other red flags here if there are concerns of child maltreatment

Maisy lives with her mum, dad and older brother, Eddie, aged 8. No social worker involved. 

Family history: What do you need to know?:

• Height of parents and mid-parental height centile
• Growth and puberty history of parents
• Birthweight and growth of siblings
• Family medical history and genetic conditions 

Maisy’s parents think they are just above average height and there were no concerns re. growth when they were younger. Eddie was born at term weighing 3.5kg. He is now 132cm and on the 75th centile for height. There is a family history of atopy but nil else. 

Examination findings

Now for the examination, the important features here are to look for:

• Current height and previous heights
• Whether the child is underweight, normal weight or overweight for their height
• Signs of chronic disease
• Any dysmorphism
• Disproportionate short stature (short limbs or trunk)
• Pubertal staging – is this appropriate for age?
• And importantly, signs of child maltreatment (this will need safeguarding work up)

Maisy is indeed shorter than average. Her growth chart is attached – with previous heights plotted too.

Current auxology:

            height: 95cm (<0.4th centile)

            weight: 15kg (2nd-9th centile)

            BMI: 16.6kg/m2 (50th-75th centile)

She is a very happy child and does not have any dysmorphic features. She is proportionally short in stature. Respiratory, cardiovascular, abdominal and neurological exams are normal and there are no features of thyroid disease.

Her mum and dad are here in clinic too – their heights are: 169cm and 190cm respectively. Their mid-parental height is on the 75th centile.

Differential diagnosis:

Having taken a good history and examination, we can determine a differential diagnosis for Maisy using the flow chart below.

Investigations as per RCPCH guidance:

So what now?

We need to do some baseline investigations to help with diagnosing the most likely cause for Maisy’s short stature and to rule in/out any treatable conditions. These can be done by the GP or general paediatric team.

Test	Indication
Full blood count (FBC)	Anaemia
Urea and electrolytes (U&Es), liver function tests (LFTs), bone profile	Renal and hepatic disease
Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP)	Inflammatory bowel disease
Thyroid function tests (TFTs)	Hypothyroidism
Coeliac screen eg. TTG Ab	Coeliac disease

All of the above are normal for Maisy. 

Having ruled out gastroenterological, renal and hepatic causes for short stature and with no psychosocial concerns such as neglect, the most likely diagnosis is that she has short stature secondary to being small for gestational age.

Further investigations can be carried out either by general paediatric team or paediatric endocrinology team:

• Insulin-like growth factor 1 ± Insulin-like binding protein 3
• Karyotype (in girls) to rule out turner’s syndrome even if there are no clinical features.
• If suspected – specific genetics for syndromes 
• Bone age

Maisy has 46XX karyotype, with normal IGF1 and bone age of a 4year old. 

Impression: Maisy has short stature secondary to being small for gestational age (SGA) and has not caught up her growth. This is likely compounded by the steroid use for her asthma.

Management:

As always, treat the cause. If for example, Maisy was found to be hypothyroid, then starting on thyroxine replacement should bring about a response in her height. Or, if she was found to have coeliac disease, one would hope Maisy would gain weight and height on a gluten-free diet.

In this case, a referral to the paediatric endocrinology team needs to be made as it would be appropriate to start Maisy on growth hormone. 

NICE Guidelines recommend that growth hormone can be given to children with:

• Growth hormone deficiency
• Turner syndrome
• Prader-Willi syndrome
• Chronic renal insufficiency
• Children born SGA and no catch up growth by the age of 4 years
• SHOX deficiency

3 years later, Maisy continues on her growth hormone treatment and has caught up to the 25th centile!

She will continue on growth hormone under the advice of her paediatric endocrinologist until her expected final height is attained or the growth velocity slows to less than 2cm in 1 year.

Key leaning points:

• Short stature is defined as height that is 2 or more standard deviations from the population mean
• The most common causes of short stature are familial and constitutional
• Not all short stature is caused by an endocrine problem – take a good history, examination and baseline investigations
• Don’t forget neglect and maltreatment as a cause
• Growth hormone is recommended in only certain conditions

References are hyperlinked in the text