Introduction: The UK Newborn Screening Programme provide guidelines which facilitate diagnosis and treatment of congenital hypothyroidism (CHT). Prompt treatment is important to ensure normal growth and development. This audit examines initial findings and growth over the first 2 years of life in CHT associated with agenesis, ectopia or dyshormonogenesis of the gland.
Methods: Patients were identified from the University Hospital of Wales paediatric endocrine database and a retrospective case note analysis was performed examining initial investigations and follow up growth data.
Results: 39 children with CHT were eligible for the audit. Seven had agenesis, 16 ectopia, 13 dyshormonogenesis and three had transient CHT. The median (range) presenting TSH was higher in those with agenesis and ectopia compared to dyshormonogenesis (482 (83657), 334 (8846) and 41 (11.8981) mU/l respectively, P<0.01). After investigation of T4 therapy, those with agenesis and ectopia took longer for TSH to return to normal (median (range) weeks to TSH recovery 26 (239), 24 (288) and 8 (239) respectively, P<0.05). No difference was seen in weight, height and OFC SDS between CHT type at diagnosis and time intervals up to 2 years of age. However, overall from diagnosis to 6 months there was significant catch up weight from a median (range) SDS of −0.52 (−5.6 to 2.0) to 0.21 (−4.0 to 2.1), P=0.01. The catch up was greater in agenesis and ectopia combined compared to dyshormonogenesis (median (range) SDS increase 1.1 (−2.1 to 3.6) compared to 0.2 (−1.0 to 0.54) respectively, P=0.02).
Conclusion: CHT due to agenesis and ectopia confer a more severe form of the condition demonstrated by a higher TSH at diagnosis, longer recovery time and significant acceleration in weight during the first 6 months of life. We would suggest that CHT due to agenesis and ectopia require closer monitoring especially over the first 6 months.