Endocrine Abstracts

Background/objectives: Kabuki Syndrome 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function of histone 3 lysine 4 mono-methyltransferase KMT2D. In addition, to neurodevelopmental features, some Kabuki Syndrome patients also exhibit endocrine-related phenotypes, such as hypoglycaemia. KMT2D is involved in global gene regulation, therefore, it is important to have a systems-based approach to understand pathomechanisms of KS1.<p class="abstext"...

Introduction: Multiple endocrine neoplasia type 4 (MEN4) is a rare disorder, caused by inactivating mutations in CDKN1B gene that encodes p27kip1 cyclin-dependent kinase inhibitor. To date nine different germline CDKN1B mutations have been described in patients with clinical features of multiple endocrine neoplasia type 1 (MEN1) negative for MEN1 mutations (MEN1 phenocopies).Case report: We present a female 54 y.o. w...

Occurrence of arterial hypertension (AH) in acromegaly (A) is the significant risk factor for sudden death. The study group included 232 patients with A aged 47–67 year (mean age 54). The duration of active phase of A was 7–17 years (median 11), GH levels were 23–19.2 ng/ml (mean 6.5), IGF-1 were 223–568 ng/ml (mean 354). AH was found in 186 patients (80.2%): 1st degree – 27%, 2nd – 32%, 3rd – 41%. Of 24-hour arterial blood pressure monitorin...

Introduction: Hyperfiltration (HF) is an early marker of chronic renal disease (CRD), which is prevalent in 10–15% of MS patients\. Taking into account the benefit of testosterone replacement towards MS components in men with MS and hypogonadism, we can expect the same benefit on HF.Objective: To study the role of hypogonadism correction in patients with MS and hyperfiltration.Methods: Of 71 men aged 35–69 with MS (IDF cr...

Background and aim: Gestational Diabetes Mellitus (GDM) is often diagnosed at 24-28 weeks of pregnancy when the fetal phenotype is already altered. We aimed to develop a machine learning model based on clinical variables, lifestyle features and genetic markers for GDM prediction in the first trimester of pregnancy based on the 2013 World Health Organization (WHO) criteria.Methods: Using multivariable logistic regression analysis, different models to pred...

Background: Gestational diabetes mellitus (GDM) is known to predispose offspring to metabolic diseases. However, the underlying mechanisms has not been thoroughly studied yet. The glucocorticoid receptor gene or nuclear receptor sub-family 3, group C, member 1 (NR3C1) may predispose to type 2 diabetes mellitus, metabolic syndrome and depression. NR3C1 gene showed significantly decreased methylation levels in cord blood and placenta from GDM women compared wit...

Patients with diabetes mellitus (DM) are more likely to suffer from purulent infection, probably due to compromised immune response. Achieving target levels of glycemia is a prerequisite for the perioperative management of patients with DM. However, the specific parameters of glycemic variability, optimal glucose range for the effective treatment of purulent infection of the maxillofacial region have not been established yet.Purpose: to assess the impact...

The glucagon stimulation test (GST) may be used as a good alternative to the insulin tolerance test (ITT) in the diagnosis of secondary adrenal insufficiency (SAI). The aim of the study was to compare the GST and ITT for diagnostic SAI, to define cortisol cut-off points and factors affecting the appearance of false positive results in young adults followed CSI.Subjects and Methods: A retrospective study of 28 patients (median age 19 [17; 23]) at least 2 ...

Introduction: Previous studies reported significant associations of steroid hormones with anthropometric parameters including body-mass-index (BMI) and waist circumference, as well as with some metabolic parameters such as triglycerides.Methods: 48 reproductive age males (age 18–49) were included in the study (27 obese individuals, 12 persons with excess body weight, 9 normal weight controls). We have examined the association between circulating st...

The study analyses direct postoperative and long-term results of surgical treatment of ACTH-secreting pituitary adenomas in 158 patients, operated between 2004 and 2009. There were 143 (91%) female and 15 (9%) male. The mean age of the patients was 36 years, S.D. 10.7. In all patients the diagnosis of Cushing’s disease was confirmed by high dose dexamethasone suppression test. Preoperative hormonal evaluation: ACTH (0800 h), pg/ml (Me-78.5 (50.5 (25th perce...