Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?

Context: Newborn screening program for congenital hypothyroidism (CH) adopting rescreening in at-risk neonates.

Objectives: To estimate the concordance rate for CH in twin pairs discordant at the first screening; to verify whether long-term follow-up of healthy cotwins belonging to CH discordant pairs may be useful to diagnose thyroid hypofunction during development; to evaluate the importance of genetic and environmental influences on liability to permanent and transient CH.

Design And Patients: Forty-seven screening discordant twin pairs were investigated.

Differentiated thyroid cancer in children: Heterogeneity of predictive risk factors.

Objective: To correlate clinical and pathological characteristics at diagnosis with patient long-term outcomes and to evaluate ongoing risk stratifications in a large series of paediatric differentiated thyroid cancers (DTC).

Study Design: Retrospective analysis of clinical and pathological prognostic factors of 124 paediatric patients with DTC (age at diagnosis <19 years) followed up for 10.4 ± 8.

Longitudinal study of thyroid function in children with mild hyperthyrotropinemia at neonatal screening for congenital hypothyroidism.

Objective: Long-term outcome of thyroid function in children with very short-lasting neonatal hyperthyrotropinemia ("false positive" at neonatal screening) was studied in an observational, prospective study. Thyroid function and morphology were evaluated in 44 "false positive" children up to advanced childhood (8.0 +/- 0.

Risk factors for congenital hypothyroidism: results of a population case-control study (1997-2003).

Objective: To identify risk factors for permanent and transient congenital hypothyroidism (CH).

Design: A population-based case-control study was carried out by using the network created in Italy for the National Register of Infants with CH.

Methods: Four controls were enrolled for each new CH infant; 173 cases and 690 controls were enrolled in 4 years.

Thyroid hemiagenesis: prevalence in normal children and effect on thyroid function.

Thyroid hemiagenesis prevalence was studied by neck ultrasound examination in 24,032 unselected 11- to 14-yr-old schoolchildren from southeastern Sicily. Twelve cases of thyroid hemiagenesis were identified, with a prevalence of 0.05%.

Genetics of specific phenotypes of congenital hypothyroidism: a population-based approach.

Congenital hypothyroidism (CH) may cause severe and irreversible neurologic and developmental abnormalities when not recognized early. Many millions of newborns have now been screened and many thousands of patients with CH have been identified. Approximately 80%-85% have defects of thyroid gland development, while 15%-20% have congenital errors of thyroid hormone biosynthesis.

Subclinical hypothyroidism in early childhood: a frequent outcome of transient neonatal hyperthyrotropinemia.

Newborns with high TSH at birth and with normal free T(4) and normal or slightly elevated TSH at the confirmatory examination are considered false positive for congenital hypothyroidism. We evaluated thyroid function, thyroid antibodies, thyroid volume and morphology, thyroperoxidase and TSH receptor genes, and auxological data in 56 false positive children at 16-44 months of age. In these children thyroid function at confirmatory examination was fully normal in 33 (TSH, 0.