• Children with Down’s Syndrome are at increased risk of developing autoimmune conditions, including both hyper and hypothyroidism.
• Children with Down’s Syndrome should have annual TSH measurements.
• This can be performed by blood spot measurements.
• If a raised TSH is found on blood spot measurements, additional investigations and assessments are required.

• Thyroid function tests (TSH and free thyroxine – fT4, T3 /fT3).
• TPO (and where appropriate TSH receptor) antibodies*.

* TSH receptor antibodies should only be requested if diagnostic query is hyperthyroidism.

(For management of hypothyroidism – please see hypothyroidism guideline).

These are non-specific and can be due to other factors. They include:

• lethargy
• poor growth
• constipation
• weight gain
• behavioural change

The absence of clinical features does not exclude thyroid dysfunction.

The newborn screening laboratory will notify the designated person if the blood spot TSH is >6mu/l, or >4mu/l in children aged 1-5 years.

Depending on the result of the thyroid function tests and the presence/absence of symptoms will determine whether initiation of thyroxine treatment is required.

Thyroxine treatment should be started:

• If TSH >21mul/l.
• If TSH >6 mu/l and the free T4 is <9pmol/l OR there are symptoms.

Thyroxine treatment should be advised/considered:

• If TSH 11-20mu/l, but free T4 within normal limits and no symptoms.
• If antibodies are present, treatment may also be considered.
• If treatment not initiated, repeat TFTs in 6 months.

Thyroxine treatment may not be required:

If TSH < 11mu/l with free T4 within normal limits and no symptoms.

The above scenarios are a guide to when treatment with thyroxine should be considered. If there are no clinical symptoms and the patient is well, they can be monitored every 6 months even in the presence of antibodies, as it may be some time before they develop hypothyroidism.

Written instructions on how to give thyroxine should be available and supplied to the parents.

Tablets:

• Available as 12.5 micrograms, 25 micrograms, 50 micrograms or 100 micrograms.
• If unable to swallow tablets, they should be crushed and mixed with a small volume (< 5ml) of liquid or yoghurt.
• Supply a tablet cutter for halving tablets if necessary.
• The first dose should be given by parents under the supervision of a nurse or pharmacist.

There are NO recommended liquid forms of thyroxine available including syrups, solutions and suspensions.

Tablets have been used extensively and successfully in the management of congenital hypothyroidism and therefore SPEG recommends the use of tablets, in accordance with ESPE guidelines [1]

(Please view this table in landscape mode on mobile devices)

*First contact may not be a clinician and could be admin staff