Endocrine Abstracts

Parathyroid carcinoma (PC) is very rare and difficult to differentiate from atypical parathyroid adenoma (AA). En-bloc surgical resection is recommended, but most cases are diagnosed after non-radical surgery, and it is recommended to expand it. Given the rarity of the cases, the difficulty in the histological diagnosis (HD) and the unpredictability of the evolution, we analyzed our experience with PC and AA.Material and methods: We conducted a ...

Introduction: MUTYH (MutY homolog Escherichia coli, homolog of MYH, hMYH) is a repair enzyme with a crucial role in the correction of DNA errors, being considered a protective factor of the cell. MUTYH mutations have been linked to MUTYH-associated polyposis syndrome (MAP), an autosomal recessive disorder characterized by multiple colorectal adenomas. Patients with MAP show a much higher lifetime risk of gastrointestinal cancers as an additional role of MUTYH, it appears to co...

Introduction: MUTYH (MutY homolog Escherichia coli, homolog of MYH, hMYH) is a repair enzyme with a crucial role in the correction of DNA errors, being considered a protective factor of the cell. MUTYH mutations have been linked to MUTYH-associated polyposis syndrome (MAP), an autosomal recessive disorder characterized by multiple colorectal adenomas. Patients with MAP show a much higher lifetime risk of gastrointestinal cancers as an additional role of MUTYH, it appears to co...

Introduction: A syndrome of MEN2A and Hirschsprung’s disease described in Israeli Jews of Moroccan descent is caused by Cys 618 Arg mutation, one of the less common causes of MEN2A. We aimed to define the clinical characteristics of a large cohort with this mutation from a multi-center Israeli registry.Methods: The Israeli MTC registry including 8 centers was searched retrospectively for results of RET mutational analysis. Patients with a Cys 618 Ar...

Background: Malnutrition affects 30-50% of patients with hematological malignancies; it is due to the disease itself, the treatment-related catabolic process and chemo-or radio-therapy side effects (nausea, vomiting, diarrhea and mucositis). Patients with poor nutritional status have increased morbidity (treatment complications, infections, mucositis) and mortality.AimTo evaluate the nutritional status of all patients that underwent hematopoietic stem ce...

Background: The goals of acromegaly treatment are to achieve long-term biochemical control, control tumor size and decrease the risk of developing systemic comorbidities. Moreover, from the patient’s perspective, symptoms and QoL are critical parameters of disease control and should be assessed routinely. To aid in the global clinical management of acromegaly, a holistic clinical decision support tool, the Acromegaly Disease Activity Tool (ACRODAT®) was developed.</p...

Introduction: Lingual thyroid ectopia is a rare congenital abnormality affecting embryogenesis of the gland descent from foregut through pre-tracheal region in the neck. Most cases have an asymptomatic course but may occasionally produce local obstructive symptoms. Diagnostic methods are 99mTc, 131I or 123I radionuclide scan, computed tomography scan, magnetic resonance, and ultrasound. Surgery is the elective treatment for cases presenting com...

Introduction: An increased risk of thyroid disease (TD) has been described in patients with type 1 diabetes (DM1) with respect to the general population. The objective is to establish the incidence and characterize the differences in patients who develop TD in relation to the debut of DM1 (previous, concurrent or a posteriori).Materials and methods: Retrospective study of 1126 patients followed up in Endocrinology consultations in Navarra. Three types of...

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours, which arise from neural crest (NC)-derived structures: the adrenal medulla and the paraganglia. Around one third of PPGLs are associated with inherited cancer susceptibility genes, the highest rate among all tumour types. Currently, the only diagnostic criterion for malignant disease is the presence of metastasis and no molecular or histological features have been identified that help predict risk. A...

Introduction: Zinc transporter 8 (ZnT8) autoimmunity has been established as one of the markers for the diagnosis of type 1 diabetes (T1D) along with glutamate decarboxylase (GAD) and tyrosine phosphatase IA-2 (IA-2) antibodies. The aim of this study is to understand the status of pancreatic autoimmunity in the diagnosis of T1D, with special attention to the usefulness of ZnT8. In addition, as a second objective, we study the proposal to perform the assessment of pancreatic au...