Endocrine Abstracts

Introduction: A new Regional Paediatric Endocrine Service was established in 1993 which implemented a protocol for Congenital Hypothyroidism (CH) management. Its aim is to confirm the diagnosis, establish aetiology and start treatment within 48 hours after the result of the screening test.

Objective: To audit the results of this protocol.

Methods: Case note and laboratory data review for all Neonates referred since 1993 after a positive TSH screening test. The following issues were considered: age at screening, time to lab. Receipt and processed the blood sample, child’s age when results known, time from referral to first appointment at, clinical presentation, presence of associated disorders, family history of thyroid diseases, presence of thyroid auto-antibodies in mother’s blood, child’s age when treatment was started, starting dose of L-T4, time to normality of TSH, diagnostic group – agenesis, dysgenesis, dyshormonogenesis, transient or other; presence of learning difficulties, assessed with Griffiths scale.

Results: A total of 28 patients were included; 7 (36.8%) were premature. Median age at screening was 9 days. Medians of time to laboratory for sample and processing were 6 and 3 days, respectively. By the time the screening test results’ were known, children had a median age of 16 days. Median time from referral to first visit was 1 day (mean age 22.0±18.2 days). Median age start treatment was 18 days; mean starting dose 8.8±3.6 mcg/kg/day. At presentation, 15 (54%) babies had jaundice. A ^99mTc scan was done in the first visit in 19 (68%) patients. 22% had thyroid agenesis, 39% dysgenesis, 30% dyshormonogenesis (all normal hearing tests) and 9% were transient 3 patients had Down’s syndrome and 1 a CNS malformation. 3 mothers had thyroid antibodies. Median time to normal TSH was 91 days and there was no a statistically significant difference between the aetiological groups. 2 patients had learning difficulties.

Conclusions: The objectives of this protocol were largely achieved, since most of the patients had a full aetiological workup and started treatment in the first 24 hours after the screening test is known.