Endocrine Abstracts

Lipodystrophic syndromes are a heterogeneous group of usually rare disorders, which have in common the selective and irreversible deficiency of adipose tissue in the absence of nutritional deprivation or catabolic state. Clinically, they are characterized by insulin resistance, related to a state of hypoleptinemia, with manifestations such as polycystic ovarian syndrome, type 2 diabetes mellitus, severe hypertriglyceridemia, and steatohepatitis among their most frequent metabo...

Pituitary stalk interruption syndrome (PSIS) is a rare clinical entity characterised by an absent or thin pituitary stalk, hypoplasia of the anterior pituitary gland, and ectopic location of the posterior pituitary on magnetic resonance imaging (MRI). Presentation is on early childhood or puberty and the most common hormonal deficiencies are growth hormone (GH) and gonadotropines. We present the case of a 28-year-old female patient who consulted after 2 years in secondary amen...

Background: IRS2-deficient (IRS2-/-) mice are considered a good model to analyze the development of diabetes as some of them present an increase in glycemia comparable to that observed in diabetes onset in humans, whereas a high proportion of these mice do not develop diabetes. Energy homeostasis regulation by the hypothalamus can be disturbed by an inflammatory environment, which predisposes an individual to the onset of diabetes. Saturated fatty acids induce hypot...

Thyroid hormone resistance (THR) is a rare dominantly inherited syndrome characterized by a reduced response of target tissues to thyroid hormone receptor. In most cases, THR is related to mutations in the thyroid hormone receptor beta gene (THRb). Management may be challenging in cases of gestation. Here we report the case of a pregnant patient with a possible not previously described mutation and negative genotype fetus.Case report: Thirty-two year old...

Introduction: In the geographical area of southern Spain, in the province of Huelva, we have detected prevalent cases of Dunnigan’s partial hereditary lipodystrophy. The genealogy, the suspicion phenotype and the coordination with the Genetics Service and Reference center, have borne fruit, and more and more families are detected in Our Area. The lipodystrophies, in general, are rare diseases that affect the adipose tissue, disappearance of it in different parts of the bo...

Introduction: Vasoactive intestinal peptide-producing tumours (VIPomas) represent a rare type of neuroendocrine tumour whose incidence is 1 in 10 million per year. Most are located in the pancreas. They cause diffuse watery (secretory) diarrhoea, hypokalaemia and achlorhydria and also appear as an uncommon cause of hypercalcaemia.Case report A 69-year-old female with previous diagnosis of a ‘non-functioning’ neuroendocrine pancreatic tumour (20...

Aim: Gestational diabetes (GDM) has been associated with an increased risk ofneurocognitive outcomes in offspring such as attention deficit/hyperactive disorders (ADHD) and autism spectrum disorders (ASD). However GDM-related comorbidities (obesity or excessive weight gain –EWG-) in this setting have been scarcely studied. So, the aim of our study was to estimate the risk of ADHD and ASD in this population.Material and Methods: Cohort study. Single...

Introduction: Graves disease (GD) is inherited as a complex multigenic disorder. One of the most promising genes for susceptibility to GD is cytotoxic T lymphocyte antigen-4 (CTLA4), a negative regulator of T-cell activation.Objective: The aim of this study was to determine whether A/G polymorphism in exon 1 of the CTLA-4 gen was associated with GD in spanish patients.Patients and methods: Fifty one adult GD patients and 25 unrelat...

AimObesity was shown to be related to global cognitive decline, being especially altered the executive function and the information processing speed. Additionally, sarcopenic obesity (SO) was associated independently with a deterioration in global cognition, executive function, information processing speed, global memory and cerebral atrophy in patients > 65 years. However, at present there is no data regarding the role of sarcopenia in the cognitive...

Introduction: Diabetes mellitus secondary to exocrine pancreas diseases (pancreatogenic DM) has an unknown incidence and is considered underdiagnosed. Our objective was to evaluate the glycemic control parameters in patients with pancreatogenic DM who started Flash glucose monitoring (FGM).Methods: Prospective, observational study in a Spanish hospital. Patients with pancreatogenic DM who started FGM from January 2021 to August 2022 were recruited. Patie...