Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 1 syndrome (MEN1) is a hereditary autosomal dominant disorder caused by germline mutations in the MEN1 tumour-suppressor gene and is typically characterized by parathyroid adenomas, duodenopancreatic neuroendocrine tumors (NETs) and pituitary adenomas. Breast cancer has recently been identified as manifestation of MEN1 and female patients have early onset elevated breast cancer risk.Case report: Female pati...

Background: Assessment of response to therapy is a valid tool for dynamic risk stratification in patients with differentiated thyroid cancer (DTC). It is well documented in patients treated with total thyroidectomy and radioiodine ablation therapy (RAI), but data is still sparse regarding patients treated with lobectomy. Our study aimed to evaluate response to therapy in patients with DTC treated with lobectomy.Methods: We performed a retrospective study...

Introduction: Regional lymph node (LN) metastases have prognostic significance in differentiated thyroid cancer (DTC). Several studies demonstrated that lateral neck LN metastasis, classified as N1b, have a greater impact on overall survival than central LN metastasis. Our study aimed to assess the risk of N1a vs N1b involvement on outcome in patients with differentiated thyroid cancer (DTC), according to the 7th edition of the TNM staging system.Methods...

Introduction: Takotsubo cardiomyopathy or stress-induced cardiomyopathy (SICM) is a rare condition. Even more rare cases associated with glucocorticoid deficiency have been described.Case report: AAGM, a 74-year-old man was admitted to the inpatient Endocrine Department because of suspected panhypopituitarism. Six months before the diagnosis of SICM was established after an acute coronary syndrome episode with no lesions found in coronary angiography and...

Introduction: Von Hippel–Lindau disease (VHLD) is an autosomal dominant neoplastic syndrome characterized by the development of multiple cancers and cists, including pheochromocytoma and islet cell tumors. Screening is mandatory for family members of index cases.Case report: A 23-year-old male Caucasian was referred to Endocrine Department because of the recent genetic diagnosis of VHLD during familiar screening. The mutation c.482G>A(p.Arg161GI...

Introduction: Hyponatremia is defined as a serum sodium level of <135 mEq/l and it is considered severe when the serum level is below 125 mEq/l. In patients with diabetes insipidus treated with desmopressin, it is usually secondary to desmopressin overmedication.Case report: A 79-year-old man, with a past history of post traumatic central diabetes insipidus treated with desmopressin. The patient had multiple admissions to the hospital due to hyponatr...

Introduction: Primary hypoparathyroidism (PH) is a rare condition. After surgery and chronic alcoholism, an autoimmune disease is the most common etiology and must specifically be considered in the context of a patient with other autoimmune endocrine diseases.Case report: MASD a male caucasian patient aged 31, was admitted to the emergency department because of perioral and hand paresthesias, and carpal spasm, in the context of a generalized anxiety reac...

Introduction: Graves’ disease is an autoimmune condition with an estimated prevalence of about 2%, 5–10 times more frequent in females. A multifactorial nature is assumed, with genetic contribution accounting for up to 80% of the variability. Relevant genes includegeneral autoimmune risk loci, such as the HLA region, CTLA-4, PTPN22 and CD40, as well as thyroid-specific loci (thyroglobulin and TSH receptor genes). We report a particular case of Graves’ d...

Introduction: Just-glomerular tumours (reninomas) are rare causes of secondary hypertension (HT). They typically present with difficult to manage-HT, hypokalemia, hyperreninemia and secondary hyperaldosteronism. They are usually small lesions (<1 cm) and are more common in adolescents or young adults. Despite being rare, they should be considered in the diagnostic approach of secondary HT, as it they are a potentially curable cause.Case report: Femal...

Introduction: The TNM classification of the American Joint Committee on Cancer (AJCC) and the Union for International Cancer Control (UICC) is the most widely used thyroid cancer staging system. The 8th edition was published in 2016 and introduced modifications to the N0 classification. Histological analysis is no longer necessary for patients to be classified as N0, as long as there is no evidence of lymph node (LN) metastasis in the preoperative imaging tests or clinical eva...