Endocrine Abstracts

Introduction: Primary hyperparathyroidism (PHPT) is commonly the most early manifestation of multiple endocrine neoplasia syndrome type 1 (MEN1), but it can also occur in young patients without any inherited disorders. The aim of our study was to compare the clinical characteristics of PHPT in young patients with MEN1 syndrome and with sporadic disease.Patients and Methods: The study included 72 patients with MEN-1 associated PHPT and 168 patients with s...

Introduction: Today simultaneous pancreas-kidney transplantation (SPKT) is an effective method of treatment for patients with type 1 diabetes mellitus (T1D) and terminal stage of diabetic nephropathy (DN) on renal replacement therapy by hemodialysis. It solves several problems: reduces the severity of intoxication syndrome, contributes to the achievement of euglycemia in most cases, that allows to delay progression of micro- and macrovascular diabetic complications. Case Descr...

Background: Atypical parathyroid tumor (APT) generally has a better prognosis compared to parathyroid carcinoma (PC). The differential diagnosis of APT and PC is crucial for further management. Diagnosis of both is based on morphological examination but sometimes can be challenging. In such cases immunohistochemistry (IHC) should be used.Objective: To estimate the utility of IHC in the differential diagnosis of APT and PC.Materials...

Hypoparathyroidism (HPT) is the most common autoimmune endocrine involvement of APECED syndrome (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, 79-96% cases). HPT is associated with reduced bone remodeling, abnormalities in microarchitecture and bone strength, thus low-energy fractures occur despite normal or even high bone mineral density (BMD). Other APECED components (hypogonadism, malabsorption, growth hormone deficiency etc.), may also affect bone metabol...

Introduction: Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an autosomal dominant disorder caused by germline mutations in the MEN1 gene encoding menin. MEN1 mutations are mainly represented by deletions/insertions, nonsense, splice site or missense mutations and can be detected by DNA sequencing. MEN-1 generally includes parathyroid, adenohypophysis, and pancreatoduodenal neuroendocrine tumors.Clinical Case: Patient S., 26-ye...

Introduction: Parathyroid carcinoma (PC) is one of the rarest malignant endocrine neoplasms (0.005% of all oncological diseases). PC relapses in 40-60% cases. The severity of the disease is determined by life-threatening hypercalcemia. Surgery is the gold treatment standard of primary tumors and distant metastases, but if it is contraindicated there are few options to control life-threatening hypercalcemia.Case 1: A 36-year-old-woman with a recurrent par...

Introduction: Pseudohypoparathyroidism (PHP) is an orphan disease caused by a mutation in the GNAS gene encoding the α-subunit of G-protein. PHP is characterized by multihormonal resistance. A correlation between the genotype and phenotype of patients with GNAS mutations hasn’t yet been described.Clinical Case: Patient T., 19 years old male, admitted to our Centre with general weakness and overweight. Hypocalcemia, hyperphosph...