Efficacy of a Salt Iodization Program on Iodine Status and Intakes in Schoolchildren of São Miguel Island, Azores, Portugal.

Introduction: Iodine is an essential micronutrient and its deficiency can severely impact children's development. In 2012, the Thyroid Study Group of the Portuguese Society of Endocrinology, Diabetes and Metabolism discovered that the median urinary iodine concentration (mUIC) level in schoolchildren of São Miguel was far too low at 70.9 μg/L.

Successful long-term use of pioglitazone in Berardinelli-Seip lipodystrophy-associated diabetes.

Summary: Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disease, characterized by the absence of subcutaneous adipose tissue, leptin deficiency and severe metabolic complications, such as insulin resistance, diabetes mellitus, and dyslipidemia. The most common mutation occurs in BCSL2 which encodes seipin, a protein involved in adipogenesis. We report a patient with BSCL who was diagnosed with diabetes at 11 years old.

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Pheochromocytoma is very rare at a pediatric age, and when it is present, the probability of a causative genetic mutation is high. Due to high costs of genetic surveys and an increasing number of genes associated with pheochromocytoma, a sequential genetic analysis driven by clinical and biochemical phenotypes is advised. The published literature regarding the genetic landscape of pediatric pheochromocytoma is scarce, which may hinder the establishment of genotype-phenotype correlations and the selection of appropriate genetic testing at this population.

Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11).

Neonatal diabetes is a monogenic form of diabetes. Herein, we report on a newborn presenting diabetic ketoacidosis at 17 days of life. A KCNJ11 mutation was identified.

[A rare case of malabsorption of thyroid hormones].

We describe the case of a 22-year old male undergoing a total thyroidectomy for euthyroid multi-nodular goitre (TSH: 1.6 microUI/ml). He was discharged treated with LT4 100 mg id.