Clinical evaluation

History– to include:

• Whether a sibling is affected.
• A family history of thyroid illness / problems.
• A history of thyroid disease or anti-thyroid therapy in the mother.
• Any symptoms of hypothyroidism (e.g. poor feeding, sleepiness, jaundice, constipation, cold peripheries, hoarse cry).

Examination – to include:

• Measurement of weight, head circumference and length.
• Measurement of (c.f. reported) parental heights.
• Presence or absence of goitre.
• Signs of hypothyroidism (e.g. coarse facies, hoarse cry, umbilical hernia).

Initial investigation

• A minimum of 1 mL of blood for TFTs in heparinised bottle or paediatric heparin tube (be prepared to make several attempts in order to get sufficient blood).
  • (It is vital that sufficient blood is taken)
• 1 mL clotted blood for quantitative thyroglobulin.
• Blood for genetics if sufficient blood is available (sample can be stored for use later).