Endocrine Abstracts

Background: Cardiovascular disease (CVD) is the leading cause of death in persons with type 1 diabetes (T1DM). However, there are no CVD-risk prediction models for this population in widespread use and those developed from general population and type 2 diabetes have been shown to underestimate CVD-risk in T1DM. Recently, the Steno Type 1 Risk Engine (ST1RE) was developed for predicting CVD in a cohort of T1DM persons without clinical CVD. We investigate the relationship betwee...

Aims: To evaluate real-world efficacy of closed-loop systems (CLS) (MinimedTM 780G, DBLG1 -Diabeloop- and Control-IQTM Tandem) as well as to assess those predictive factors related with the achievement of near-normal glycemic control.Methods: A prospective, longitudinal, and observational study was performed. It included T1D adults who initiated CLS between April and December 2021 in our hospital and provided data for ≧3 months (...

Background: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder, of which 21-hydroxylase deficiency (21OHD) is the most frequent form. 11 beta-hydroxylase deficiency (11bOHD) is the second most common type of CAH. This pathology results from inactivating mutations in CYP11B1 gene.Case presentation: We describe a case of a 48-year-old woman with 11bOHD, presented with hypokalemia hypertension, early adrenarche and mild vir...

Introduction: Fetal goiter is an infrequent and potentially life-threating condition derived from either fetal hypothyroidism or hyperthyroidism. TSH-receptor stimulating antibodies (TSH-R-ABs) can cross the placenta and induce fetal hyperthyroidism and goiter. We describe a rare case of TSH-R-ABs-induced hyperthyroidism in a woman with autoimmune hypothyroidism (AH) without previous hyperthyroidism.Case Report: A 28 years old pregnant woman under treatm...

Introduction: Surgical resection is currently considered the standard treatment for symptomatic insulinomas; however, its morbidity is high (>10%) and it is restricted to suitable candidates. In recent years, alternative minimally invasive therapies, such as endoscopic ultrasound (EUS)-guided ethanol ablation (EA), have emerged as new therapeutic options, especially for small lesions or poor surgical candidates. We report two cases of insulinoma ablated with EA.<p clas...

Background: Prader-Willi syndrome (PWS) is a rare genetic disorder evolving morbid obesity and growth hormone deficiency (GHD). Testing GH-IGF1 axis is required before treatment with rhGH in adults with PWS (1). The most common used tests in these patients are GHRH+arginine (GHRH+a) and insulin tolerance test. There are no prospective data for glucagon test (GT) in comparison to GHRH+a in adults with PWS. Mechanism by which GT causes GH release remains unclear, glucagon-induce...

Introduction: Prader Willi syndrome (PWS) is the most common syndromic form of obesity, caused by the absence of expression of the paternally active gens on the long arm of chromosome 15.The 16p11.2 microdeletion has recently been recognized as a syndromic condition appearing to be a predisposing factor for overweight, being the second most common genetic cause of obesity. One possible causative gen- SH2B1- involving leptin and insulin signaling, has been identified, although ...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause (<2 percent) of endogenous Cushing’s syndrome, usually characterized by enlarged adrenal glands containing multiple functioning nonpigmented macronodules. PBMAH was thought to be sporadic, but recently a genetic component has been described. Specifically, inactivating mutations in ARMC5 (Armadillo-repeat containing 5), a suppressor gene, have been found in many familial c...

Introduction: Stiff person syndrome (SPS) is a rare neurological disease resulting in stiffness and spasm of muscles and, as a consequence, severely impaired ambulation. Pathophysiology of the disease is based on an increased muscle activity caused by the decreased level of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) due to an autoimmune attack against glutamic acid decarboxylase (GAD); enzyme which is also one of the main autoantigens of type 1 diabetes mel...