Endocrine Abstracts

Background: Adrenocortical carcinoma (ACC) is a rare malignant tumor with a poor prognosis. The only curative therapy is complete surgery (R0). A 5-year local recurrence and distant metastasis rate after R0 is 80–85%. Mitotane is widely used as an adjuvant treatment in patients with a high risk of recurrence. According to the most studies, it can delay and possibly prevent a recurrence of the disease in 35–50%. However, its efficacy is controversial, as well as the o...

According to numerous studies, type 2 diabetes mellitus (T2DM) is associated with an increased risk of low traumatic non-vertebral fracture. There are a limited number of studies which evaluate lateral vertebral X-Rays in order to diagnose vertebral fractures in patients with T2DM. The goal of our study was to investigate the difference in vertebral fracture rate registered on lateral X-Ray between subjects with T2DM and a control group being under observation in the same outp...

MELAS syndrome is a progressive neurodegenerative disorder characterized by a combination of mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes and endocrine disorders. The frequency of hypoparathyroidism in MELAS syndrome is less than 0.5%. A 22-year-old female was admitted to our center due to episodes of seizures. At admission her height was 147.5 cm, weight 30.5 kg, BMI 13.8 kg/m2. She reported whole life weight and growth retardation, hearin...

Introduction: Osteopetrosis is a rare hereditary disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for some forms of osteopetrosis. HSCT is usually performed in infancy. Currently there is also experience of HSCT for osteopetrosis in adults1. In this clinical case we describe the follow-up of a patient treated with HSCT1 at the age of 28.<p class="abst...

Introduction: Insulinoma visualization is the most difficult stage of diagnosis of this disease. Currently, in most cases the contrast-enhanced multislice computer tomography of abdomen and retroperitoneal space (CE-MSCT) is the method of choice in topical diagnosis of insulinoma. This method is associated with radiation exposure and administration of contrast agents, so it is invasive. Thus, an alternative highly informative and safe method for initial topical diagnosis of in...

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal phosphate metabolism caused by a small mesenchymal tumor that secrete fibroblast growth factor 23 (FGF23). A 29-year-old female has suffered from two low-traumatic hip fractures, multiple fractures at the pelvic and sacrum, and diffuse bone pain for more than 3 years. Her mobility was limited in the last year (used crutches) because she had severe muscle weakness. Laboratory examination at the time ...

Osteogenesis imperfecta (OI) is a heritable skeletal disorder caused by defective bone formation. OI type V (MIM#:614757) develops due to mutation in the IFITM. Mutation c.-14C >T in the IFITM5 is more common whereas only five reported patientshave a c.119C >T mutation. Patients with IFITM5:c.119C >T mutation usually have low-traumatic fractures in the prenatal period of development, severe limb and chest deformities, short height, verteb...