Congenital hypothyroidism treatment in infants: a comparative study between liquid and tablet formulations of levothyroxine.

Aims: To compare the effects of liquid and tablet formulations of levothyroxine (L-T4) in 78 newborns with congenital hypothyroidism (CH).

Methods: 39 patients received liquid L-T4 (group A) and 39 patients received tablets (group B). Thyroid-stimulating hormone (TSH) and free thyroxine (fT4) were measured and L-T4 dose recorded at onset of therapy and during the first year of treatment.

Difficult treatment of consumptive hypothyroidism in a child with massive parotid hemangioma.

Consumptive hypothyroidism is a rare condition related to massive infantile hemangiomas producing an excess of the thyroid-hormone-inactivating enzyme type 3 iodothyronine deiodinase. We report the first case of consumptive hypothyroidism secondary to a large parotid hemangioma, highlighting the difficulties in selecting an adequate therapeutic strategy. The affected child was initially referred to our center for congenital hypothyroidism with a hypoplastic thyroid gland.

Newborn of mothers affected by autoimmune thyroiditis: the importance of thyroid function monitoring in the first months of life.

Background: Evaluation of thyroid function in neonates born from mothers affected by autoimmune thyroiditis in order to define if a precise follow-up is necessary for these children. The influence of maternal thyroid peroxidase antibody (TPOAb) and L-thyroxine therapy during pregnancy on neonatal thyroid function was also investigated.

Methods: 129 neonates were tested for thyroid function by measurement of free thyroxine (FT4) and thyroid stimulating hormone (TSH) in 3th day, 15th day and at one month of life.

Bilateral cavo-ilio-femoral thrombosis in an adolescent with transient anti-phospholipid antibodies and factor V heterozygous mutation: a case report.

We report a case of bilateral cavo-ilio-femoral thrombosis in an adolescent with factor V heterozygous mutation and transient antiphospholipid antibodies secondary Varicella infection.The clinical significance of finding transient antiphospholipid antibodies in the sera of infectious disease is unclear. We here report a case of bilateral cavo-ilio-femoral thrombosis in an adolescent with newly diagnosed factor V heterozygous mutation and transient antiphospholipid antibodies secondary to Varicella infection.

A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH).

Context: The guidelines of the National Academy of Clinical Biochemistry advocated the use of low bloodspot TSH (b-TSH) threshold for newborn screening of congenital hypothyroidism (CH). The impact generated by the application of this indication is largely unknown.

Objective: To determine the impact on CH epidemiology and classification generated by the introduction of low b-TSH cutoff.

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

One of the steps in thyroid hormone biosynthesis is the generation of hydrogen peroxide by dual oxidases (DUOX). Only one study reported mutations in DUOX2 gene in congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients. We report genetic and phenotypic characterization of a family affected with isolated CH.