Guidelines recommended by the Sri Lanka College of Paediatricians, November 2014
Based on the European Society for Paediatric Endocrinology – Consensus Guidelines on Screening, Diagnosis and Management of Congenital Hypothyroidism (J Clin Endocrinol Metab 2014; 99(2):363-84
Early detection and treatment of congenital hypothyroidism (CH) prevents neuro-developmental disability and optimizes growth and development.
All babies should be screened for congenital hypothyroidism.
Congenital hypothyroidism should be managed by a Paediatrician or a Paediatric Endocrinologist.
- Neonatal screening for CH
- All babies should have a heel prick blood screening test for TSH before discharge from the institution at which the birth took place
- Abnormal heel prick results should be notified over the phone to the parents and the relevant Paediatrician
Cord blood analysis –
Parents/paediatrician should be notified when the TSH level is over 20mU/L.
- If cord blood TSH is over 20 mU/L – perform a venous free thyroxine (fT4) and TSH between day 3 and day 5 for confirmation.
- Preterm neonates, low-birth weight (LBW) and very low-birth weight (VLBW) neonates, and ill, preterm neonates admitted to neonatal intensive care units (NICU) should have their screening either before discharge or before 4 weeks of age, whichever comes earlier.
- Neonates treated with Dopamine or Dobutamine should have their screening test two (2) weeks after stopping Dopamine/Dobutamine.
- Biochemical criteria used in the decision to initiate treatment
- If capillary TSH concentration on neonatal screening is ³ 40 mU/L perform a TSH and fT4 (TFT) on venous blood and start treatment.
If results could be obtained on the same day, treatment can be withheld till then.
- If capillary TSH concentration is less than 40 mU/L, repeat a venous TFT. Treatment can be withheld till the venous TFT results are available, provided these will be available on the following day.
- Decision to start treatment based on the venous TFTs
- If venous free T4 (fT4) concentration is below the normal range for age, treatment should be started immediately.
- If venous TSH concentration is greater than 20 mU/L, treatment should be started, even if fT4 concentration is normal.
- If venous TSH concentration is ³ 6 to 20 mU/L after 21 days in a well baby with a fT4 concentration within the normal range for age –
- Repeat TFT in 2 weeks
- Perform an ultrasound scan (USS) of the thyroid gland
- If a small/ectopic thyroid gland is seen with a TSH ³ 6 to 20 mU/L, then, irrespective of the fT4 value, thyroxine therapy should be started
- If the thyroid gland is normal on USS with a TSH ³ 6 to 20 mU/L with a normal fT4, repeat TFTs, every two weeks till TSH normalizes
- All children with congenital hypothyroidism should have an USS of the thyroid gland.
- If facilities are available it is recommended to perform radioisotope scanning before starting treatment or within 3 days of starting treatment.
- This is not mandatory if facilities are not available.
- Initiation of treatment should never be delayed pending imaging.
- Treatment and monitoring of CH
- Levo thyroxine (L-T4) is the medication of choice.
- L-T4 treatment should be initiated as soon as possible and during the first 2 weeks after birth or immediately after confirmatory serum test results are available.
- Initial dose of L-T4: 10–15 mg/kg per day.
- Thyroxine should be given early morning on an empty stomach and the breast milk, breakfast or bed tea should be withheld for 30-45 minutes after the medication is administered.
- L-T4 tablet should be crushed and given dissolved in a few millilitres of breast milk or water.
- Parents should be provided with written instructions regarding L-T4 treatment.
- Monitoring of dose and follow-up
- Serum or plasma fT4 and TSH concentrations should be determined between 8-9 am before the morning dose of L-T4.
- First follow up visit – fT4 should be checked 2 weeks after starting thyroxine and adjust the dose accordingly.
- fT4 concentration should be maintained in the upper half of the age specific reference range.
- TSH should be maintained in the age specific reference range.
Any reduction of L-T4 dose should not be based on a single increase in fT4 concentration during treatment.
Once TSH/fT4 levels have normalized the suggested follow up is as follows –
During first 6 months of life ® fT4 and TSH should be checked every 6 weeks
6 months to 12 months of life ® fT4 and TSH should be checked every 8 weeks
1 year to 3 years of life ® fT4 and TSH should be checked every 3 months
After 3 years till growth is completed ® fT4 and TSH should be checked every 6-12 months.
- Additional evaluations should be carried out 4–6 weeks after any change in L-T4 dose.
- Adequate treatment throughout childhood is essential for normal growth and development.
- Over-treatment should be avoided.
- Anthropometry including skull circumference (OFC) measurements and development should be monitored at each clinic visit.
- Thyroid re-evaluation
Thyroid re-evaluation should be considered in the following groups of patients
- Those who had initial TSH > 20 mU/L with normal fT4 and normal USS.
- All preterm and sick babies who required treatment.
- Those who had normal TSH levels immediately after commencing treatment.
In these patients treatment should be continued till 3 years of age with regular clinical and biochemical monitoring.
In general, transient hypothyroidism is characterized by a marginally elevated TSH on repeated testing, slightly low or normal fT4 and a low dose of L-T4 is required to maintain euthyroid status.
Thereafter suggested procedure for re-evaluation is:-
- Reduce dose of L-T4 by 30% for 2 to 3 weeks
- Check TSH/fT4
- Repeat an USS of the thyroid gland
- If TSH > 10mU/L ® congenital hypothyroidism (CH) is confirmed and treatment needs to be continued
- If CH is not confirmed – Reduce L-T4 dose gradually with repeat TFTs performed 2 to 3 weekly and stop treatment thereafter
- Repeat a TFT after 3 months of stopping treatment
Léger Juliane, Olivieri Antonella, Donaldson Malcolm, Torresani Toni, Krude Heiko, van Vliet Guy, Polak Michel, Butler Gary. European Society for Paediatric Endocrinology – Consensus Guidelines on Screening, Diagnosis and Management of Congenital Hypothyroidism. J Clin Endocrinol Metab 2014;99(2):363-84
Rose Susan R. Update on Newborn Screening and Therapy for Congenital Hypothyroidism. Pediatrics 2006;117(6):2290-2303
Committee appointed by the SLCP to formulate the above guidelines –
Prof. Shamya de Silva (Chairperson)
Dr. Padmakanthi Wijesuriya
Dr. Lilanthi de Silva
Dr. Ramya de Silva
Prof. Sujeewa Amarasena
Dr. Samantha Waidyanatha
Dr. Navoda Atapattu (Convenor)