Awareness, diagnosis and treatment of Congenital Hypothyroidism

Australian Health Journal spoke to Associate Professor Jack about congenital hypothyroidism and newborn screening and her concerns in the varying thresholds for across different states in Australia. Despite the existence of newborn screening programs since the 1970s, there is still controversy surrounding the appropriate screening levels. Congenital hypothyroidism, affecting about one in 3500 infants, can lead to severe intellectual and physical impairment if not diagnosed early. The condition is mainly caused by the thyroid gland’s failure to develop properly, resulting in insufficient thyroid hormone production.

The current challenge lies in setting the right screening thresholds to avoid false positive or missed diagnoses. Assoc Prof Jack highlights the need for standardisation in the approach to borderline thyroid abnormalities in children, as the wide variety of responses from paediatric endocrinologists indicates a lack of consensus. She emphasises the importance of conducting high-quality research to determine the optimal screening thresholds, considering both the impact on infants and their families and the healthcare system’s cost.