Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection.

Background/aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought.

[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2.

Differentiated Thyroid Cancer in Children: Prevalence and Predictors in a Large Cohort with Thyroid Nodules Followed Prospectively.

We retrospectively analyzed the findings of a prospective cohort of 75 children referred for thyroid nodules between 2008 and 2013. Prevalence of papillary differentiated thyroid carcinoma was 18.7%.

Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010).

Introduction: We retrospectively assessed the incidence of congenital hypothyroidism (CH) detected through our neonatal screening program between 1997 and 2010. We describe the diagnostic characteristics of the detected population and verify the impact of a TSH cutoff (CO) change.

Patients And Methods: Screening was based on TSH determination on dried blood spot on filter paper samples (IFMA) using a 15 mU/l blood CO until 12/2002 (P1) and 10 mU/l thereafter (P2).

Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.

Activating mutations in the TSH Receptor (TSHR) gene have been identified as the molecular basis for congenital non-autoimmune hyperthyroidism. We describe the clinical findings and molecular characterization in a girl who presented severe non-autoimmune hyperthyroidism since birth, born to a mother with autoimmune thyroid disease. She was treated with methylmercaptoimidazol and β-blockers, but remained hyperthyroid and required total thyroidectomy.