ESPE Abstracts

Background: Paediatric Osteoporosis can be a devastating complication of Duchenne muscular dystrophy (DMD). Treatment with intravenous bisphosphonates such as pamidronate is currently the first treatment choice for paediatric osteoporosis of different etiologies.Objective and hypotheses: The aims of our study were i) to identify the proportion of boys with DMD with osteoporosis in our service and ii) to evaluate the side-effect profile of those treated w...

Background: Fatty liver disease is diagnosed increasingly in obese children, which pathophysiology remains unexplained. Risk factors as insulin resistance, evolution of steatosis and hypertriglyceridemia, should be taken into consideration in its development.Objective and hypotheses: To analyse the prevalence of hepatic steatosis identified by ultrasound, as well as features and anthropometric data in our population divided into 2 groups: with steatosis ...

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...