Effect of prolonged discontinuation of L-thyroxine replacement in a child with congenital hypothyroidism. 2012

Rita Ann Kubicky, and Evan Weiner, and Bronwyn Carlson, and Francesco De Luca
Section of Endocrinology and Diabetes, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA.

When diagnosed through neonatal screening and treated promptly and adequately, infants with congenital hypothyroidism (CH) experience normal physical growth and neurological development. Here we present a 3-year-old boy diagnosed with CH as a newborn, who was subsequently left untreated and experienced significant growth failure and developmental delay. This case emphasizes the importance of a consistent adherence to treatment in preventing such complications, especially in infancy and early childhood.

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