ESPE Abstracts

Background: Hypercalcaemia has various etiologies and treatment is often challenging. Therapeutic options include aggressive fluid management, loop diuretics and antiresorptive drugs. Since both hypercalcaemia and bisphosphonates can cause acute kidney injury (AKI), bisphosphonates are not recommended in patients with renal impairment. Denosumab, an antiresorptive human monoclonal antibody, is not associated with AKI and offers a temporary treatment option. Ho...

Introduction-Purpose: In addition to chromosomal abnormalities, a number of genes have been implicated as causes of Disorders of Sexual Development (DSD). The NR5A1 (SF-1) gene expresses a transcription factor that plays a role in steroidogenesis by controlling multiple stages of adrenal and gonadal development, and its mutations have been reported in cases of DSD.Case presentation: A 152/12-year-old teenager ...

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

Maternal nutrition can have significant long-term consequences on energy homeostasis in the offspring. However, whether resveratrol, with antioxidant and anti-obesity actions, can improve the impact of poor maternal nutrition on offspring metabolism remains largely unknown. We hypothesized that resveratrol intake by dams would protect the offspring against the harmful effects of a maternal high fat diet (HFD). We also determined if resveratrol’s effects are diet and sex d...

Introduction: Obesity is known to associate with chronic systemic inflammation. However, hypothalamic inflammation also occurs in response to high fat diet (HFD)-induced obesity and is proposed to participate in central insulin/leptin resistance and the perpetuation of weight gain and systemic affectation. The weight gain and central responses to HFD differ between males and females. As hypothalamic glial cells are implicated in the central inflammatory response we hypothesize...

Background: Prolonged poor dietary habits can result in hypothalamic inflammation and gliosis with more recent studies suggest that other brain areas may also be affected. Western or high fat diet intake has been associated with increased cognitive impairment and aberrant feeding behavior, with males and females being differentially affected. The hippocampus participates in both of these functions. Saturated free fatty acids can induce astrocyte inflammation and this could pot...

Background: Recent studies in multiple models of type 1 diabetes mellitus (T1DM) have demonstrated the role of mitochondrial abnormalities in the pathogenesis of this disease and its complications. Humanin is a potent cyto-protective and ‘metaboloprotective’ molecule in vitro and in vivo, including the protection of β cells from apoptosis, improvements in insulin secretion and action, and both prevention and treatment of diabetes in the NOD mou...

Background: Severe insulin resistant (IR) type A is a rare inherited disorder characterized by glucose metabolism disturbances without obesity, acanthosis nigricans and hyperandrogenia due to INSR defects.Case report: A 10-year-old girl was admitted because of skin papillomatosis and hyperpigmentations since her 7 years. She had early puberty with pubarche at 8 years and telarche at 9 years. Examination revealed normal height and weight (SDS BMI...

Background: The relationship of obesity and emotional disorders is confirmed in many studies. It is known that one of the substances responsible for the emotional status is dopamine.Objective: To study the features of neuroendocrine status in obese children.Methods: We examined 285 children (206 obese, age 14.56±2 years, BMI 32.86±5.1 kg/m2; 79 normal weight (control), 14.51±2.2 years (P=0.95), 19...