[Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening].
Anales de Pediatría (English Edition)(2019)
Abstract
The screening programme of congenital hypothyroidism (CH) is probably one of the best achievements in paediatrics. Thyroid hormones are essential for brain development and brain maturation that continue through the neonatal period. Hypothyroidism that begins in the first months of life causes irreversible damage to the central nervous system, and is one of the most frequent and preventable causes of mental retardation. As children with congenital hypothyroidism are born with a normal appearance, analytical studies are required to immediately start the appropriate therapy.
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Key words
Congenital hypothyroidism,Neonatal screening,Early detection,Follow-up units for endocrine diseases,Free T4,TSH,L-thyroxin,Molecular genetics
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