Endocrine Abstracts

Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. It can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome related to a Xp22.3 region deletion, which include KAL1 and STS genes.Case report: We report a case of a 32-year-old male with ichthyosis referred for evaluation of high height (2.07 m), overweight (BMI 29.6 kg/m2) ...

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...

Background: Gestational diabetes (GD) prevalence is increasing as the obesity epidemic continues. Its management involves hospital visits every 1–2 weeks. In 2016 our team developed a web-based telemedicine platform (SineDie©). This tool operated as a clinical decision support system designed to manage the treatment of patients with GD. SineDie© automatically prescribed diet recommendations and identified the necessity of insulin treatment....

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: Most serum cortisol (SeC) is linked to cortisol binding globulin and albumin. When the synthesis of proteins is reduced or increased, SeC does not reflect the actual free cortisol (FC) (active fraction). Methods for FC analysis are very laborious and expensive, which makes difficult to use them as a routine laboratory tests. Salivary cortisol (SaC) mirrors the FC in serum, being its measurement easier and cheaper. The determination of SaC, instead of tot...

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: PWS is the most common cause of genetic obesity. These patients have an abnormal body composition with increased amounts of fat mass (FM), reduced lean body mass (LBM) and diminished bone mineral density (BMD), all similar to patients with growth hormone deficiency (GHD).The abnormal body composition has been described due to impairment of the activity of GH-IGF system and to hypogonadism. Studies ongrowth hormone (GH) treatment in PWS adults from other European ...

Background: Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder characterized by marked hyperphagia and morbid obesity, together with hormone deficiencies, abnormal behaviour in relation to food (obsessive thinking, food foraging, stealing, etc.). Veins in patients with PWS are difficult to find due to obesity and probably to generalised hypotonia including venous tone. Since treating a patient with PWS often requires the acquisition of blood samples, an exper...

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...