Endocrine Abstracts

Objective: MODY5 is caused by abnormalities in the TCF2 gene encoding the transcription factor HNF1β. We investigated cases of MODY5 for the underlying type of TCF2 anomaly.Case presentations: From 623 children and adolescents with diabetes mellitus followed at our diabetes clinic in 2006, 64 were negative for islet cell autoantibodies (GAD, IA-2, ICA) within the first year of diagnosis and out of these, four patients presented clinica...

The recommended nutrient intake (RNI) for iodine during pregnancy has been re-evaluated in 2005 by an international expert committee under the auspices of the World Health Organization (WHO). The consensus reached was that the RNI for iodine during pregnancy should range between 200 and 300 μ/d with an average of 250 μ/d.To asses the adequacy of the iodine intake during pregnancy in a population, urinary iodine concentration (UIC) should be mea...

In 162 patients with end-stage renal disease (ESRD), 112 on maintenance haemodialysis (HD) and 50 on continuous ambulatory peritoneal dialysis (CAPD), thyroid status was evaluated: thyrotropin (TSH, IRMA, normal range 0.15–5 mU/l), total thyroxine (TT4, RIA, 70–140 nmol/l), free thyroxine (FT4, RIA, 11–25 pmol/l), total triiodothyronine (TT3, RIA, 1–3 nmol/l), free thyroxine (FT3, RIA, 2.5–5.8 pmol/l); in 113 patients (63+50) also reverse T3 (RT3, RIA,...

Background and aim: Orexin-A (OXA) increases insulin secretion and inhibits glucagon secretion, suggesting a role in regulating glucose homeostasis. The effects of OXA on pancreatic A-cells on the cellular level have not yet been demonstrated. Aim of our study was therefore to characterise the underlying signal transduction pathways and to study the OXA effects on proglucagon gene transcription.Methods: The effects of OXA on glucagon secretion were evalu...

Morbid obesity is associated with a decreased life expectancy and a myriad of serious medical problems. The Roux-en-Y gastric bypass (RYGBP) is the most effective procedure for the treatment of these patients, but it can be responsible of early and late complications. The aim of this prospective study was to evaluate the rate of visceral protein malnutrition (VPM) in morbid obese (MO) patients two years after laparoscopic RYGBP. Albumin (Alb), prealbumin (Prealb), transferrin ...

Background: The response to first-generation long-acting somatostatin analogues (LA-SSA) treatment in acromegaly depends on the expression of the somatostatin receptor (SSTR) subtypes. In contrast to octreotide and lanreotide which preferentially bind to SSTR2, pasireotide targets multiple SSTRs, with the highest binding affinity for SSTR5. It has previously been suggested that SSTR5 expression could predict the response to pasireotide LAR (PAS-LAR) treatment in acromegaly.</p...

Introduction: Alteration in the expression of clock-related genes has been observed in various diseases. Adrenal sensitivity to adrenocorticotropic hormone (ACTH) apart from the hypothalamo-pituitary-adrenal axis is also regulated by the intrinsic adrenal clock. A link between clock genes and glucocorticoid adrenal production has been suggested by in vitro and animal studies. In the present study we investigated clock genes expression in human benign tumors of the adr...

Introduction: Obesity is a chronic condition with great morbidity, mortality and significant economic and psychosocial impact. Bariatric surgery has proven to be an effective therapy for sustained weight loss and has allowed a reduction in medical comorbidity and an improvement in self-esteem and life quality. However, recent evidence reports an increase in eating and substance-related disorders that are diagnosed in the postoperative period worsening the prognosis.<p clas...

We aimed to assess the effect of sleeve gastrectomy (SG) on the metabolic and gut microbiota profiles in non-diabetic obese patients with different grade of insulin resistance (IR).Methods: Prospective study of 22 morbid non-diabetic obese patients (77.2% women, age 47.13±9.51 years, basal BMI 45.59±4.99 kg/m2, 11 IR and 11 non-IR) undergoing SG. A fasting blood sample was collected at baseline and at 6 months post-SG for the determi...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...