Endocrine Abstracts

Case history: An 18-year-old Caucasian female presented with primary amenorrhoea after her younger sister aged 16 years old started menstruating. She had a normal childhood and progressed through puberty normally, with no past medical history or family history. BMI was 22.6 with a normal examination including secondary sexual characteristics (Tanner Stage 5) and no signs of hyperandrogenism.Investigations and Results: Bloods showed an elevated LH:FSH rat...

Chronic inflammation and high expression of pro-inflammatory cytokines, such as Interleukin-6 (IL6), are well-known risk factors for prostate cancer (PCa). IL6 is known to activate the androgen receptor (AR) and has been implicated in development of castration resistance. Therefore, we wanted to investigate the interaction of AR and IL6 signalling and the effect on anti-androgen treatment. We could confirm IL6 mediated activation of the AR on 3 AR target genes in presence of R...

Enzalutamide is an androgen receptor (AR) inhibitor approved for therapy of metastatic castration resistant prostate cancer. However, clinical application revealed that 30 to 40% of patients acquire resistance after a short period of treatment. Currently, the molecular mechanisms underlying such insensitivities are not completely understood, partly due to a lack of model systems. In the present study we established three different cellular models of enzalutamide resistance inc...

Introduction: To reliably assess glomerular filtration is of vital importance if oral antidiabetics are used. We compared the CKD-EPI model, a clinically established calculation model to assess creatinine clearance (CreaClear) with specimens from 24-h urine.Method: Inpatients (university hospital) with diabetes mellitus received a 24-h urine collection (24hClear) or since 2013 calculated CreaClear using CKD-EPI-formula (EPI). From 2014 to 2015 values of ...

Introduction: Mutations activating USP8 have been detected in a high proportion of pituitary adenomas causing Cushing’s disease and have been linked to an increase of ACTH production in corticotroph cells. Whether USP8 mutations are involved in the tumorigenesis of the ectopic Cushing’s syndrome (ECS) caused by neuroendocrine tumors has not been studied.Patients and methods: In this work we evaluate the role of USP8 in a series of 17 t...

Introduction: Diabetes Mellitus (DM) and prediabetic states (pre-DM) are well known risk factors for stroke. Admission blood glucose level and its control during hospital stay, help predicting arterial recanalization after thrombolysis and middle and long term prognosis. We analysed recurrence, mortality and nosocomial infectious complications in DM, pre-DM and patients without previous or newly diagnosed DM or pre-DM.Methods: Descriptive analysis in con...

Introduction: In metformin-associated lactic acidosis with renal dysfunction inhibition of hepatic gluconeogenesis by drug accumulation may aggravate fasting induced-ketoacidosis. We report the occurrence of metformin-associated lactic acidosis with concurrent euglycemic ketoacidosis in three patients with renal failure.Cases: The first patient was a 79-year-old woman who suffered from chronic kidney disease stage IIIa after traumatic uninephrectomy, and...

Context: Hypothalamic obesity, subsequent cardiovascular disease (CVD), and relapses/progression have major impact on prognosis in childhood-onset craniopharyngioma (CP). We analyzed nuchal skinfold thickness (NST) on magnetic resonance imaging (MRI) performed for follow-up monitoring as a novel parameter for body composition (BC) and CVD in CP.Objective: Identify association of NST with body mass index (BMI), waist-to-height ratio (WHtR), caliper-assess...

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To assess STAT5B sequence in children selected for a phenotype suggestive of Stat5b deficiency. To further characterize genomic STAT5B variants in two families.Methods: Selection of children from a tertiary Paediatric Endocrine ...

The glucagon-like peptide-1 receptor (GLP-1R) is a G protein-coupled receptor (GPCR) expressed in various tissues such as brain and pancreas where it contributes to the regulation of energy expenditure and metabolism. Due to its involvement in glucose-dependent release of insulin from pancreatic beta cells, the GLP-1R has become a blockbuster target for the treatment of type 2 diabetes. Despite this, debate still exists about the exact distribution of the GLP-1R throughout the...