Endocrine Abstracts

Medullary thyroid cancer (MTC) is a rare disease accounting for about 5% of all thyroid cancers and can occur sporadically (75%) or as part of the familial syndrome multiple endocrine neoplasia type 2 (MEN 2). The hereditary forms are caused by a mutation in the ‘rearranged during transfection’ (RET) gene.When a proven RET mutation is present carriers will be offered a prophylactic thyroidectomy. The timing of this prophylactic procedure is not...

Context: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head and neck paraganglioma (HNPGL), sympathetic PGL, phaeochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson’s two-hit hypothesis stating that the combination of an inactivating germline mutation as a first hit and somatic loss of funct...

Introduction: Despite adequate treatment with LT4 monotherapy, many patients with primary hypothyroidism still report complaints, as this treatment can not exactly imitate the endogenous homeostasis. We examined whether the different domains of HR-QOL were affected by the existence of a thyroid disorder and use of LT4 substitution, and whether a lower ratio of free triiodothyronine (fT3)–free thyroxine (fT4)</sup...

Objectives: At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population.Methods and results: An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including ...

Introduction: The Thr92Ala polymorphism of deiodinase 2 (DIO2) is associated with increased expression in the brain of genes associated with oxidative stress, and may predict favourable response to combination thyroxine (L-T4) plus triiodothyronine (T3) therapy. We examined whether the Thr92Ala polymorphism (rs225014) was associated with differences in thyroid hormone parameters, health-related quality of life (HR-QOL) and cognitive functio...

Background: Von Hippel Lindau (VHL) disease is a rare tumour syndrome with a high penetrance. VHL mutation carriers develop numerous disease related manifestations in multiple organs during life, but precise difference in growth velocity and incidence of lesions in different organs is still unknown. We aimed to gain insight in the incidence of consecutive new disease manifestations in the organs of patients with VHL.Patients and methods: Clinical data in...

Background: Differentiated thyroid cancer (DTC) is usually associated with an excellent prognosis. The main cause of death is due to distant metastases, but distant metastatic DTC (dmDTC) presents an interpatient heterogeneity. Some patients with distant metastases live with stable disease for many years, while others die very early. Still no effective biomarkers are available to predict either which patients will eventually develop distant metastases or what will be the final...