Endocrine Abstracts

Introduction: We report a case of adrenal tumor recurrence after bilateral adenomectomy for Cushing’s syndrome.Case report: A 44-year-old female diagnosed in June 2014 with Cushing’s syndrome caused by bilateral adrenocortical tumors, which were identified by an abdominal CT (right tumor-2.6/ 2/1.8 cm, left tumor-3/2/2 cm). At presentation, the patient had typical signs and symptoms of hypercortisolism and complications such as: arterial hypert...

Alzheimer’s disease (AD) is a neurodegenerative disease that manifests itself in the gradual loss of cognitive and behavioral functions. In humans, glucagon is processed in pancreatic alpha cells located next to insulin-secreting beta cells, suggesting a local interaction. Glucagon is also produced in the intestinal L-cells and in small amounts in the hypothalamus. The main function of glucagon is to counteract the effects of insulin and thus maintain balanced blood gluco...

Background: Steroid hormones such as the estrogen 17β-estradiol and the androgen testosterone play an important role in the etiology of hormone dependent diseases. To investigate factors influencing endogenous steroid hormone synthesis also biologically less active glucuronides and sulfates should be considered since they can serve as circulating reservoir for bioactive hormones. As the sensitivity of the available mass spectrometry (MS)-based method is lower for glucuron...

Obesity during gestation has been related to predisposition to endocrine and metabolic diseases in the offspring. Regarding reproductive effects, an increase in BMI in pregnant mothers is associated with precocious puberty in their offspring. This has been replicated in animal models of high fat diet (HFD) administration to mothers. Also, gestational obesity has been associated to higher susceptibility to developing breast cancer in the offspring. As both precocious puberty an...

Background: Carpal tunnel syndrome (CTS) is common in patients with acromegaly, with a reported prevalence of 19–64%. We have studied CTS in a large national cohort of patients with acromegaly, and the temporal relationship between the diagnosis of the two diseases.Methods: Retrospective nationwide cohort study including patients diagnosed with acromegaly in Sweden between 2005 and 2017. Patients with acromegaly were identified in the Swedish Natio...

Introduction: Although, the relationship between pathological process of the parathyroid and thyroid is common, concurrence of primary hyperparathyroidism (pHPT) and papillary thyroid carcinoma (PTC) is extremely rare, probably because, unlike with medullary thyroid cancer, they have not a common embryologic origin. We present a case with this uncommon association.Case report: A 67-year-old woman with multinodular goitre was addressed in endocrinology fo...

Idiopathic Infantile Hypercalcemia (IIH) is a rare inborn form of severe vitamin D hypersensitivity, with an estimated incidence of 1:33.000 live birth and a high degree of misdiagnosis. Since the identification of CYP24A1 loss-of-function variants inducing IIH in 2011, over 41 pathogenic variants have been described, and represent the major genetic drivers of IIH1. CYP24A1 encodes the main catalytic hydroxylase of the bioactive form of vitamin D (1,25D3). Upon bind...

Background: The Ins2+/G32S mutation in the KINGS mouse drives beta-cell endoplasmic reticulum (ER) stress. The result of this is sexually dimorphic; males develop overt diabetes by 5-weeks (>16.7mM) whilst females remain normoglycemic. Previous studies have shown that high-fat feeding increases beta-cell ER stress, whilst GLP1-receptor agonists reduce this. We investigated whether altering ER stress could promote diabetes development in female KINGS mic...

Despite well-established sex differences in blood glucose homeostasis, female mice are highly underrepresented in preclinical diabetes research. Reasons for this may be the milder diabetic phenotype often seen in female mice and/or the assumption that the estrus cycle causes excessive variability in blood glucose concentrations. During this workshop talk we will discuss these points and the importance of accounting for sex differences. Using continuous glucose monitoring techn...

Introduction: Gigantism represents a rare pathology in children, characterized by growth hormone (GH) excess, before epiphyseal fusion. It associates significant morbidity and decreased life expectancy, in lack of appropriate treatment.Case presentation: O.D., a male patient, 16 years old now, has been followed in our clinic since 2016, being diagnosed with gigantism in Bega Pediatric Clinic, at the age of 12 years 9 months. In 2014, the patient presente...