Endocrine Abstracts

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea, but over time, patients may need insulin therapy.Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of ...

Mutations in HNF1A gene underlie the development of maturity onset diabetes of the young type 3 (MODY3). Mutations in ABCC8 gene are the cause of neonatal DM and the rare MODY12, which is clinically similar to MODY3. In these forms of MODY, there is a high sensitivity to sulfonylurea, but over time, patients may need insulin therapy.Patient A, 17 y.o. He was born to woman with gestational DM. At the age of 12.5, fasting hyperglycemia of ...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p ...

Background and Aims: Awareness and knowledge about any disease is the first step to prevent and treat it. Osteoporosis is a worldwide health problem. Osteoporosis is characterized by decreased normal bone density. More than 8.9 million fractures worldwide annually are caused by osteoporosis; these fractures are a significant cause of morbidity and mortality. Evidence suggests that the modification of several lifestyle habits, diagnostics, prevention and treatment could assist ...

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...

Introduction: Amyloid goitre is a rare cause of thyroid enlargement, especially as a reason of fast growth. Here we present unusual case of idiopathic AA-amyloidosis as a cause of rapidly growing goitre.Clinical case: Patient 36-year-old presented with complaints of shortness of breath and deglutitive problems during 2 months. His medical history was notable for nephrotic syndrome due to AA-amyloid nephropathy and chronic hepatitis C that were diagnosed ...

The discovery of leptin in 1994 has opened a new era in the study of energy balance control at the molecular level. By informing the brain and other tissues the state of fat stores, leptin plays a key role in the control circuits of both appetite and energy expenditure, thus affecting most if not all of the body’s activities. This discovery in mammals stimulated a great interest in the physiological role and molecular mechanism of leptin in chickens. However, a true chick...

Introduction: Adrenocortical carcinoma (ACC) is a rare malignant tumor with heterogeneous prognosis. The median overall survival of all ACC patients is about 3-4 years. Complete surgical resection provides the only cure [Fassnacht M, et al., 2018]. In cases of advanced ACC, therapeutic options are limited. No effective second-line therapies are recommended for patients with disease progression to EDP chemotherapy scheme and Mitotane. It is essential to study alternative drugs,...

Introduction: Achievement of stable normocalcemia (88–98.8%) is considered a criterium of efficiency of surgical operations for primary hyperparathyroidism (PHPT) (P.Goudet et al. 2001, Zeiger 1997). In 1–15% of cases, persistence of PHPT is noted (Mariani et al. 2003, Mariette et al. 1998).Description of methods: In 110 of 175 patients (aged 14–72 years), parathyroid adenoma was verified, in 57 – hyperplasi...

Introduction: The aim of study was to perform a comprehensive structural and functional assessment of thyroid gland in men with metabolic syndrome (MS).Methods: Main group (MG) of 116 men aged 35–60 years with MS (by International Diabetes Federation definition) and 34 healthy controls of the same age profile underwent a comprehensive examination of thyroid gland which included physical assessment, full serum thyroid hormonal profile – total an...