Diagnosis and Management of Congenital Hypothyroidism: An Updated Overview

Context: Hypothyroidism describes an endocrine disorder that occurs when the thyroid gland cannot secrete adequate thyroid hormones. Congenital hypothyroidism refers to a lack of thyroid hormone among newborns. Evidence Acquisition: The ISI Web of Sciences, Scopus, PubMed, and Google Scholar databases were reviewed for relevant articles published from 2000 to 2022. Results: Congenital hypothyroidism, occurring in approximately one in 2,000 to one in 4,000 newborns, ranks among the most frequent causes of intellectual disability that can be prevented. The screening of newborns, confirmation assessments, interpretation of thyroid function tests accurately, prompt and therapeutic treatment, and regular follow-up contribute to a very good neurocognitive outcome later in life. Since the timely diagnosis of congenital hypothyroidism is critical in preventing mental retardation, clinicians must be kept abreast of this disorder and educate nursing and medical students regarding accurate interpretations of diagnostic testing and the recognition of associated symptoms. Most newborns with congenital hypothyroidism present no symptoms, even though their TSH or T4 levels are likely to have fluctuated significantly. As a result, congenital hypothyroidism was rarely detected in newborns before the introduction of neonatal screenings. Conclusions: We provide an overview of the etiology, epidemiology, manifestation, diagnosis, and treatment of congenital hypothyroidism based on the latest studies.