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 ...

The hepatic peptide hormone hepcidin is the principal regulator of iron absorption and tissue iron distribution. Hepcidin circulates in blood plasma and acts at nanomolar concentrations by inducing degradation of its receptor, the cellular iron exporter ferroportin. Ferroportin exports iron into plasma from absorptive enterocytes, from macrophages that recycle the iron of senescent erythrocytes, and from hepatocytes that store iron. Therefore, hepcidin-mediated degradation of ...

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: Multiple endocrine neoplasia type 1 (MEN 1) is a rare, autosomal dominant disease caused by mutations in the MEN1 gene. The syndrome predisposes an individual to the development of primary hyperparathyroidism (PHPT), gastroenteropancreatic neuroendocrine tumors (GEP-NETs), pituitary adenomas (PA), as well as other endocrine and non-endocrine tumors that usually manifest at a young age. If a patient with the MEN 1 phenotype does not carry m...

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...

Introduction: Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare disorder, which is frequently characterized by the development of parathyroid carcinomas and atypical parathyroid adenomas and, thus, severe course of primary hyperparathyroidism (PHPT).Case reports: Two patients (1 male and 1 female, 18 y.o. and 13 y.o. at the time of diagnosis of PHPT, respectively) among a cohort of young patients (<40 y.o.) with PHPT, underwent next...

Background: SARS-CoV-2 profoundly impacts population health through both acute infection and post-COVID period. Multiple studies make it clear that metabolic diseases can significantly affect the course of COVID-19.Aim: To study the course of post-COVID period in patients with type 2 diabetes mellitus (DM2).Methods: The international registry ACTIV SARS-CoV-2 (NCT04492384) was established to study COVID-19 in the Eurasian region. T...

Background: The literature shows that body mass index (BMI) and blood glucose levels can significantly influence the course of infectious diseases. In the light of ongoing SARS-CoV-2 pandemic, its rational treatment and prevention are strategic public health goals.Aim: To study the relationship between BMI and serum glucose levels during the acute period of COVID-19 in hospitalized patients.«ACTIV SARS-CoV-2» registry was established to evaluat...