All-Cause and Disease-specific Mortality and Morbidity in Patients With Congenital Hypothyroidism Treated Since the Neonatal Period: A National Population-based Study.
ABSTRACT Context:Little is known about the long-term health of patients treated for congenital hypothyroidism since the neonatal period.Objective:To evaluate the causes of mortality and comorbidity in a population-based registry of young adult patients.Design, Setting, and Participants:All 1772 eligible patients diagnosed during the first decade after the introduction of neonatal screening in France participated in the study. Follow-up data on vital status were available, in May 2010, for 99.5% of the patients. Completed questionnaires were obtained from 1202 of the selected patients.Main Outcome Measures:All-cause and cause-specific mortality and comorbidity.Results:All-cause mortality in the congenital hypothyroidism (CH) patients was slightly higher than expected on the basis of year, age, and sex (standardized mortality ratio [SMR] 1.24, 95% CI: 0.81-1.82). SMRs for each category of underlying cause of death showed mortality due to diseases of the central nervous system (SMR 5.22, 95% CI: 1.68-12.17) and congenital malformations (SMR 3.15, 95% CI: 1.86-6.49) to be significantly higher than expected in the CH patients. The risk of developing an associated chronic disease in the 1202 patients who completed the questionnaire was twice that for the reference population (odds ratio 2.0 [1.32-3.03]). Neurologic or mental diseases and congenital malformations were the most frequent (odds ratios 2.54 [1.12-5.86], 4.18 [1.27-13.76], and 4.36 [1.24-15.34], respectively). Overall, mortality and morbidity were not affected by sex, disease severity, cause of CH, or adequacy of treatment.Conclusion:Prognosis has improved considerably, but a few patients diagnosed during the first 10 years of screening in France nonetheless displayed comorbidity and mortality due to various neurodevelopmental disorders and associated malformations. These results reveal a continuing need for improvements in care and studies to provide knowledge about the full spectrum of the disease and the mechanisms underlying these developmental abnormalities.
- SourceAvailable from: Miguel Angel AlvarezJ Clin Endocrinol Metab. 01/2014; 99(2):363-384.
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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. © 2014 S. Karger AG, Basel and The Endocrine Society.Hormone Research in Paediatrics 02/2014; 81(2):80-103. · 1.55 Impact Factor
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ABSTRACT: The resuscitation principles of securing the airway and stabilizing hemodynamics remain the same in any neonatal emergency. However, stabilizing endocrine disorders may prove especially challenging. Several organ systems are affected simultaneously and the clinical presentation can be subtle. Although not all-inclusive, the implementation of newborn screening tests has significantly reduced morbidity and mortality in neonates. Implementing routine screening tests worldwide and improving the accuracy of present tests remains the challenge for healthcare providers. With further study of these disorders and best treatment practices we can provide neonates presenting to the emergency department with the best possible outcomes.Emergency medicine clinics of North America 05/2014; 32(2):421-435. · 0.96 Impact Factor