ESPE Abstracts

Background: Insulin Autoimmune Syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycaemia with only few descriptions in children in the literature. Drugs containing the sulfhydryl group, such as methimazol, are known to be a causative factor of this syndrome. Diazoxide and octreotide are usually ineffective in such patients.Objective: We aim to describe a rare case of IAS in a child, with a good response to a short course of glucocorticoid therapy....

Background: Insulin remains the mainstay treatment for diabetes type 1(T1D), more recently several technological advances have been introduced to assist with the treatment. Continuous Subcutaneous insulin infusion (CSII) devices and continues glycose monitors (CGM) have gained a lot of popularity and are thought to help patients achieve better glycaemic control. HbA1c levels can be used to assess glycaemic control. There are conflicting reports on whether thos...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a regulator of IGF-1 availability, causes postnatal growth failure in humans and mice, at least in part through dysregulation of bone size and density. The present study aimed to determine the effects of Pappa2 gene deletion and the response to recombinant murine IGF-1 (rmIGF-1) on femur microstructure and composition. Hydroxyapatite-related crystallography and ionic substitutions were analyzed by X-ray p...

Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability affecting postnatal growth. Mutations in human PAPP-A2 cause short stature and changes in bone size and mineral density. The present study aimed to characterize the effects of constitutive Pappa2 gene deletion on hypothalamic regulation of energy homeostasis in adult male and female mice. In addition to being sho...

The deficit of lysosomal acid lipase (LAL) is an infrequent (1: 40,000–300,000 prevalence), autosomal recessive, monogenic pathology. It can aggressively (Wolman’s disease): malabsorption and severe dyslipidemia with survival less than one year of life. The cholesterol ester storage disease (CESD) presents with dyslipidemia, liver disease and early cardiovascular disease.Goals: Descriptive study of the prevalence of LAL deficiency and carriers ...

Today we have an increase in patients with early-ahead forecast pubarche with impaired bone carving for advancement but organicidad criteria (HSC) but if dysfunction or adrenal hyperandrogenism and/or ovarian There are several anti-androgen drugs, all without usual pediatric use (use ‘of label’). Low-dose flutamide 62.5 mgr/day has been postulated as a treatment in these cases, but its use is restricted due to the risk of side effects (gynecomastia and liver involvem...

It is known that more checks of blood glucose, metabolic control of patients with type 1 suffering Dm improvement. Improved technology has made it possible to develop devices interstitial glucose control both blinded (retrospective) and open (in real time). The FREE STYLE free device is the latest appearance on the Spanish/European market. Although initially not seem indicated in <18 th, these are the a priori more could benefit from an improvement of metabolic control.</p...

Introduction: Two-stage surgical feminization is a part of the multidisciplinary rehabilitation of girls with external genital virilization. The first stage involves clitoroplasty and labioplasty with preservation of urogenital sinus (US) in girls with third degree of virilization according to Prader classification and higher. US eliminating is performed by second stage in the puberty. Persistence US may cause dysfunction of urodynamics and infections of the l...

Background: Growth hormone (GH) deficiency in children, confirmed by stimulation diagnostic tests, in some cases is accompanied by low effectiveness of somatropin replacement therapy, which may be associated with rare genetic syndromes.Aim: To study the growth effects of GH therapy in treating a patient with Floating-Harbor SyndromeMethods: A GH deficiency was diagnosed in a patien...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...