Endocrine Abstracts

Introduction: Congenital hypothyroidism (CHT) is a significant health issue, responsible for serious long-term consequences if left untreated. From experience we know that early identification and treatment can prevent long-term neurodevelopmental sequelae of the condition. We audited our management of babies born with CHT between the years of 2012 and 2019 to evaluate our care against best practice.

Methods: Babies born with CHT in Nottingham between 2012–2019 were identified using a local patient database and the newborn screening laboratory database. Electronic records were reviewed, gathering data on demographics and clinical management to assess adherence to the UK newborn screening programme clinical referral standards and guidelines.

Results: Twenty-eight babies were identified and a complete data set was obtained for 22 patients. The mean age at identification was 20 days. The majority of referrals came through the newborn screening laboratory (79%) with the remainder from neonates (18%) and A&E (4%). 82% of babies were reviewed within 24 h. All had repeat blood samples to confirm the diagnosis. 61% were started on a dose of 10-15 micrograms/kg/day. Normalisation of the TSH was achieved within four weeks in 62% of babies, but only 9% had normalisation of their fT₄ by two weeks. Treatment was started by 14 days of age in only 40% of those suspected with CHT. 71% were transient and 29% had permanent CHT following a trial off medication. 18% had imaging, of which 60% were normal, 20% were abnormal and 20% inconclusive.

Conclusion: The data indicates that time to review from identification was performed well, although less than 50% of babies were started on treatment within the two-week timeframe. This may be due to delayed identification, with a mean age at identification of 20 days. Although most received a dose of 10 micrograms/kg/day, several were underdosed, leading to a delay in the normalisation of thyroid function. The majority of patients had normal ultrasound scans. Delays in identification suggest a review of the pathway of care would be useful, and variations in dosing and imaging could be streamlined with the formulation of a guideline.