Endocrine Abstracts

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD) with a prevalence of one in 60-70,000 in humans. It is mainly caused by mutations in the OTC gene, which encodes the enzyme ornithine transcarbamylase. Patients with OTCD present disturbed urea cycle function and ammonia accumulation in the bloodstream, downstream leading to a range of symptoms, including developmental delay, cerebral oedema, coma, and death. We developed a human...

Background: Polycystic ovary syndrome (PCOS), the commonest endocrinopathy of women in the reproductive age is often accompanied by insulin resistance (IR). The aim of the study was to assess the prevalence of IR in women diagnosed with PCOS, where IR was assessed by methods most commonly used in clinical practice, i.e. homeostatic model assessment (HOMA) and insulin resistance index (IRI), also known as the Belfiore index.Patients and methods: The study...

The estrogen receptors ERα and ERβ are currently considered important molecules in glucose and lipid metabolism, although their specific roles in pancreatic β-cells are still greatly unknown.The function of pancreatic β-cells is the biosynthesis and release of insulin, the only hormone able to decrease blood glucose levels. It has been recently described that ERα plays an essential role in the regulation of insulin biosynthesis b...

The classical way of thinking about the development of the early mouse embryo has been that it is an essential prerequisite for cells to adopt differential, inside or outside positions for them to acquire differential expression of cell fate determining genes. However, over recent years it has been realised that important differences arise between cells in gene expression, cell fate and potential earlier than previously realised, before cells acquire specific positions. We hav...

Objective: To evaluate the long term risk for diabetes and insulin resistance in untreated and oral contraceptive (OC) treated hirsute patients.Design: Cross sectional study.Setting: Academic tertiary-care medical centre.Patients: Of 233 Caucasian hirsute women were evaluated during 1997–2002 (baseline) and re-contacted in 2003–2004. Of 159 patients returned questionnaires and 69 attended clinical e...

Objective: Diet and nutritional status during pregnancy are critical for the health of both mothers and the neonates. Women in twin pregnancies have higher metabolic needs compared to women in single pregnancies and it can be expected that they have higher risk of key vitamins and micronutrients deficiencies. However, very scarce data are currently available on this topic.Aim of the study and method: The main aim is to analyze the nutritional status of w...

Introduction: Secondary hypothyroidism is observed in children after brain damage. The aim of the study is evaluation of mental development in preterm-born children during replacement therapy with l-thyroxin because the secondary hypothyroidism. Description of methods: The motor and mental development preterm new-borns with secondary hypothyroidism treated with l-thyroxin since the second week of life were compared with the development of preterm new-bor...

Introduction: Cushing’s disease (CD) is the most common cause of hypercortisolism. Therefore, the majority of studies focused on the efficacy and safety of novel steroidogenesis inhibitors included CD patients only. This is exactly the case with osilodrostat – new potent inhibitor of 11β-hydroxylase. However, approximately 10% of hypercortisolism result from cortisol-secreting adrenal adenoma. Data on potential differences in the treatment with osilodrostat betw...

Introduction: In recent years, there has been a significant increase in the detection of thyroid cancer (TC) and a number of thyroid surgeries. Both the ATA 2015 and 2022 Polish guidelines allow sparing treatment in low-risk TC, nevertheless, most patients are qualified for total thyroidectomy.Material and method: The present study analyzed how often a TC patient opts for sparing treatment and the relationship between the size of the primary focus and ri...

Objective: To compare metabolic characteristics of women with different phenotype of polycystic ovary syndrome (PCOS) based on Rotterdam criteria.Materials and methods: One thousand one hundred women with PCOS, aged 17–40, were recruited. The patients were divided into four subgroups according to the phenotype of PCOS defined by Rotterdam criteria: (A): oligo- and/or anovulation (Oligo), hyperandrogenism (HA), polycystic ovaries (PCO); (B): oligo+ H...