Endocrine Abstracts

Background: Anaplastic thyroid-carcinomas (ATC) and a subset of papillary (PTC) and follicular (FTC) thyroid carcinomas behave aggressively showing metastatic spread and radio-resistance. Both the PI3K and HIF pathways are associated with aggressiveness and metastasis in thyroid carcinoma.Aims: To assess if the PI3K/HIF pathways contribute to radio-resistance and assess the effect of PI3K/HIF inhibition on radio-sensitivity of thyroid-carcinoma cells (85...

Generalised oedema as a rare complication of insulin treatment in the absence of renal, hepatic or cardiovascular disease was first described by Leifer in 1928. The true incidence of insulin oedema in children with type 1 diabetes mellitus is unknown and since it was first reported in 1979, there have been only 12 reported cases worldwide. Insulin oedema has been described both in patients with newly diagnosed diabetes receiving insulin therapy for the first time and also in t...

Disorders of sex development (DSD) are a collection of rare congenital conditions with diverse features and pathophysiology. Patients usually present at birth with atypical genitalia or with delayed puberty in adolescence. Biochemical and cytogenetic investigations may provide guidance on the underlying cause, however molecular genetic analysis is usually required to provide a definitive diagnosis and allows for personalised management of the patient. The current diagnostic se...

Congenital hypothyroidism (CH) occurs in approximately 1 in 3000 individuals. Rapid detection by neonatal screening and T4 administration is essential to prevent severe mental retardation and impaired growth. About one third of CH is due to mutations in known genes including the thyrotropin receptor (TSHR).Two Welsh male siblings with CH were detected, both had normally sized and located thyroid glands, no iodide uptake and were negative for thyroid bloc...