A Novel Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.

Congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive endocrine disorder characterized by complete or partial failure of pubertal development and infertility due to deficiency of the gonadotropin-releasing hormone (GnRH). CHH has a significant clinical heterogeneity and can be caused by mutations in over 30 genes. The aim of this study was to investigate the genetic defect in two siblings with CHH.

biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.

Objective: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal sense of smell. Mutations in the gene cause autosomal recessive nCHH. The aim of this study was to determine the prevalence of mutations in a group of 40 patients with nCHH.

The role of ablative treatment in differentiated thyroid cancer management.

The role of ablative treatment in differentiated thyroid cancer management has been evolving over the years. After its introduction in clinical practice, the use of postsurgical radioiodine treatment was generalized to almost every patient with differentiated thyroid cancer, with the exception of unifocal microcarcinomas. However, in the last decade several studies questioned its benefit in low- and intermediate-risk patients.

Controversies in the management of hyperglycaemic emergencies in adults with diabetes.

Hyperglycaemic emergencies are associated with significant morbi-mortality and healthcare costs. Management consists on fluid replacement, insulin therapy, and electrolyte correction. However, some areas of patient management remain debatable.

Antithyroid Drug-Induced Agranulocytosis: State of the Art on Diagnosis and Management.

Agranulocytosis is a rare but serious complication of antithyroid drug therapy, and an up-to-date understanding of this topic is important. Both direct toxicity and immune-mediated responses have been described as possible mechanisms. Some major susceptibility loci have recently been identified, which may lead the diagnosis of agranulocytosis into a genomic era.