Endocrine Abstracts

Introduction: Differentiation between familial chylomicronemia syndrome (FCS), a rare hypertriglyceridemia, and severe hypertriglyceridemia (sHTG; non-FCS) is challenging due to overlap in triglyceride (TG) levels and symptomology but important in disease management. Clinical characteristics that allow for reliable differentiation may exist in the presenting clinical features and primary diagnostic testing. The objective of this analysis was to assess whether readily obtainabl...

ICH is a rare and heterogeneous condition due to defects in the onthogenesis, migration and action of GnRH secreting neurons. Recent publications indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic and oligogenic defects have been described as a possible pathogenic explanation for this disease. Among the cohort of 315 ICH patients we identified 3 KS and 7 nICH patients (7 males, 3 females) with a biallel...

Intrauterine prostaglandin (PG) synthesis and release are key components of human labour at term and pre-term, resulting in synchronised membrane rupture, cervical dilation and myometrial contractility. A key mediator of uterine PG production is the highly inducible enzyme cyclooxygenase 2 (COX2 or PTGS2). Epidermal growth factor (EGF) is released by the foetus during pregnancy and amniotic fluid levels rise rapidly during late gestation, moreover EGF stimulates expression of ...

Objective: Agranulocytosis to the antithyroid drugs is a rare adverse drug effect exposure to potentially lethal infections. It is a public health problem with hyperthyroidism in nearly 1% of the French population. However, many uncertainties remain in the knowledge, understanding, prevention and management of this drug effect. In this work, we report the French experience through pharmacovigilance data.Materials and methods: This is a retrospective stud...

Introduction: 11β-hydroxysteroid dehydrogenase type 1 (11 β-HSD1) converts cortisone into its active metabolite, cortisol. Mechanisms regulating the promoter-activity of 11β-HSD1 are of considerable importance to understand the basics of intracellular cortisol, lipid and glucose metabolism. The incretine glucose-dependent insulinotropic polypeptide (GIP) has been suggested to affect insulin sensitivity. However, the mechanisms of this effect are unclear yet....

Control of CRFs in T2DM patients results in a clinically important reduction in the risk of death and complications related to diabetes.Objective: To assess the degree of control of modifiable CRFs in treated T2DM patients, stratified by diabetes therapy.Materials and methods: Cross-sectional study in 574 T2DM patients who attended our clinic for a routine follow-up. Fasting plasma glucose (FPG), HbA1C, HDL-Cholesterol (HDL-Ch), LD...

Background: GH deficiency due to iron overload is well known in thalassaemic children, yet this association has not been described in children with haemochromatosis.Case report and methods: We report on a girl who was first seen at the age of 9.6 years (height 117.5 cm, −3.3 SDS, weight 21 kg, −2.5 SDS). She had a normal physical examination and was prepubertal. Target height-SDS was −0.9. Her bone age was delayed by 10 months. IGF1 was...

Glucose-dependent insulinotropic polypeptide (GIP) is an incretin hormone secreted by K-cells of proximal small intestine that is secreted postprandial in response to glucose and fat ingestion. Its effect is mediated through a GIP receptor (GIPR) which is widely expressed in different tissues, e.g. pancreatic islets, adipose tissue, skeletal muscle, adrenal cortex, heart, pituitary and in some regions of the brain. However, only the effect of GIP in pancreatic beta-cells is we...

Background: The finding of severe hyperandrogenemia, rapidly progressive clinical hyperandrogenism, defeminization and/or virilization in women of any age should raise the suspicion of an ovarian or adrenal malignancy. Similarly, moderate to severe hyperandrogenemia after menopause, and its clinic consequences, force clinicians to rule out a tumoral source.Matherial and methods: Observational cross-sectional study conducted in patients derived to our cli...

Purpose: The prevalence of pathological bone densities in men and women with prolactinomas treated either primary surgically or medically are infrequently reported across large cohorts. In the present study, we aimed at comparing the impact of either therapeutic approach on the bone density in men vs women with prolactinomas.Methods: Retrospective case-note study including all consecutive patients with prolactinomas in whom osteodensitometry data was ava...