Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep1251 | Late Breaking | ECE2024

Nearly asymptomatic hypophosphatasia: a clinical case report

Pigarova Ekaterina , Asanova Aurika , Drachuk Elizaveta , Dzeranova Larisa

Introduction: Hypophosphatasia is a group of inherited disorders characterized by the impaired mineralization of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. It is caused by a mutation in the ALPL gene encoding the isoenzyme of ALP resulting in a loss of function. Since an early age of onset is usually associated with a more severe disease, and a late age – with a mild course of the disease, the manifestation of the disorder ranges from a life-thr...

ea0099ep1258 | Late Breaking | ECE2024

Atypical manifestation of parathyroid carcinoma in patient with RET and CYP24A1 mutations: a case report

Asanova Aurika , Kim Ekaterina , Eremkina Anna , Pigarova Ekaterina , Mokrysheva Natalia

Introduction: Parathyroid carcinoma (PC) is one of the rarest endocrine malignancies. Most PCs are sporadic, sometimes occurring in the framework of familial primary hyperparathyroidism (PHPT). PHPT due to PC is usually characterized by significantly increased PTH levels, severe hypercalcemia, larger tumor size and a higher incidence of disease complications. Clinical case: A 56-year-old male C. presented with an accidental formation at the posterior con...