Thyroid disorders in neonates: A practical approach to congenital hypothyroidism and thyrotoxicosis

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Congenital hypothyroidism is one of the most common causes of preventable intellectual disability in the UK and worldwide. Early diagnosis is critical to allow for early intervention. At present, 1 in 2000 to 1 in 3000 babies born in the UK have congenital hypothyroidism. Of these, most will not display any clinical manifestations or symptoms in the first few weeks of life. In short, babies will develop intellectual disability if they go undiagnosed. It is therefore no surprise that the day 5 blood spot is essential for good outcomes and harm reduction. Diagnosis of thyroid disorder is based on measuring the thyroid hormones and thyroid stimulating hormone levels. The most common cause of congenital hypothyroidism is an abnormality in thyroid gland development (dysgenesis) but it may also be the result of a defect in thyroid hormonogenesis or may be temporary as a result of maternal medications passing through the placenta, maternal blocking antibodies or iodine excess or deficiency. Rarely, it is the result of pituitary or hypothalamic abnormality when it is called central or secondary/tertiary hypothyroidism. This short article offers practical advice on how to diagnose and treat congenital hypothyroidism and how to interpret the results of available biochemical tests.
Research Subject Categories::INTERDISCIPLINARY RESEARCH AREAS::Children , Research Subject Categories::MEDICINE::Dermatology and venerology,clinical genetics, internal medicine::Internal medicine::Endocrinology
Srinivas Nallagonda, Amile Inusa, Rohit Gupta, Madhavi Nallagonda, Thyroid disorders in neonates: A practical approach to congenital hypothyroidism and thyrotoxicosis, Paediatrics and Child Health, Volume 33, Issue 6, 2023, Pages 149-153, ISSN 1751-7222,