European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism

Abstract

Objective:The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH).Evidence:A systematic literature search was conducted to identify key articles relating to the screening, diagnosis, and management of CH. The evidence-based guidelines were developed with the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) system, describing both the strength of recommendations and the quality of evidence. In the absence of sufficient evidence, conclusions were based on expert opinion.Consensus Process:Thirty-two participants drawn from the European Society for Paediatric Endocrinology and five other major scientific societies in the field of pediatric endocrinology were allocated to working groups with assigned topics and specific questions. Each group searched the literature, evaluated the evidence, and developed a draft document. These papers were debated and finalized by each group before presentation to the full assembly for further discussion and agreement.Recommendations:The recommendations include: worldwide neonatal screening, approaches to assess the cause (including genotyping) and the severity of the disorder, the immediate initiation of appropriate L-T4 supplementation and frequent monitoring to ensure dose adjustments to keep thyroid hormone levels in the target ranges, a trial of treatment in patients suspected of transient CH, regular assessments of developmental and neurosensory functions, consulting health professionals as appropriate, and education about CH. The harmonization of diagnosis, management, and routine health surveillance would not only optimize patient outcomes, but should also facilitate epidemiological studies of the disorder. Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy.

Wrodzona niedoczynność tarczycy — polskie rekomendacje dotyczące leczenia, monitorowania terapii i badania przesiewowego w specjalnych kategoriach noworodków z wysokim ryzykiem niedoczynności tarczycy

“…FT4 concentration in the upper half reduces the risk of a relative decrease in the drug dose as compared to the rapidly increasing weight of the child [23]. Compliance with appropriate spacing between consecutive check-ups is very important for proper treatment monitoring [24,25]. The dynamic physical development in the first year of life justifies frequent laboratory testing, which, depending on the rate of body weight changes, should be carried out at 1-3-month intervals.…”

“…The time of the effective action is short-up to four weeks after labour or no later than 1-2 weeks the patient should have normal serum and tissue levels of fT4 and fT3. This therapeutic window ensures the optimum mental development of the child in the future [24,25,32]. TSH levels have no significant diagnostic value, since in the foetus and in preterm newborns the pituitary-thyroid axis is not always efficient.…”

Tamizaje nacional unificado de hipotiroidismo congénito en el Perú: un programa inexistente

“…De acuerdo con estas, si la prueba de TSH en el tamizaje neonatal es igual o mayor a 40 mU/L se recomienda iniciar tratamiento tan pronto la prueba sanguínea confirmatoria sea recolectada, al menos que los resultados de función tiroidea estén disponibles el mismo día de la notificación de los resultados (13) .…”

“…Estas guías, a diferencia de las guías de la AAP, enfatizan no solo la importancia del tamizaje neonatal "obligatorio" para HC, sino también enfatizan la importancia de consejería genética en caso haya historia familiar de enfermedad tiroidea congénita o de malformaciones congénitas asociadas, la importancia de indicar terapia de reemplazo hormonal tiroideo en casos de hipotiroidismo transitorio y remarcan la importancia de la evaluación continua del desarrollo neurológico y neurosensorial, específicamente el test de audición y monitoreo de retraso del lenguaje. Estas dos patologías son más frecuentes en infantes con HC (13) .…”

“…El diagnóstico y tratamiento oportuno de HC implica el inicio de tratamiento inmediatamente después del diagnóstico, pero idealmente antes de las primeras dos semanas de vida, con el objetivo de normalizar la hormona T4 libre (13) . Podemos concluir que, a pesar de haber mejorado la edad de diagnóstico clínico de HC en los últimos 20 años, Perú está aún lejos de la meta de prevención de consecuencias irreparables debido al diagnóstico tardío de HC.…”