ESPE Abstracts

Background: We have previously shown that estradiol (E2) matrix patches for adults could be cut in smaller pieces to administer low doses for pubertal induction in girls with hypogonadism. With a slow increase of the patch size during a few years, serum E2 levels in normal girls undergoing puberty can be closely mimicked.Objective and hypotheses: To evaluate storage conditions once the patch has been cut.Metho...

Background: The Turner syndrome (TS) Working Group of the ESPE intends to start an international study comparing transdermal estradiol (E2) vs oral E2 in Europe in girls with TS. For this, stable and reliable products for children are needed, for use in different countries with different climates. It has previously been shown that E2 matrix patches for adults can be cut in smaller pieces to administer low doses for pubertal induction in girls. The Turner Working Group plan to ...

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is а rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...

Introduction: Fenton (2013) defined small for gestational age children (SGA) as born with birth length and/or weight < 10th percentile for the corresponding gestational age, and clinicians use it ever since. According to the literature, 1 of 10 children born SGA does not catch-up in growth. Wit (2021) suggested to address them as short SGA children. Recombinant human growth hormone (rhGH) treatment in those children have been approved by the FDA in 2001 and...

Background: Non-communicable disease epidemic is directly related to the dislipidemia and insulin resistance (IR) that associated with acute cardiovascular events. Meanwhile, there is not much has known about interrelation between this parameters in pediatric patients.Purpose: of the study is to analyze associations between lipids and insulin resistance so as to screen high risk subjects during adolescence.<p class="...

Background: Suppression of hypothalamic-pituitary-gonadal system activity by luliberin analogues in premature sexual development of the central genesis is accompanied by a decrease in growth’s velocity, sexual development and progression of bone age.Aim: Study of the effectiveness of gonadotropin-releasing hormone agonist therapy, their influence on the physical developmentMethods: 66 patients were treated by triptorelin. Idio...

Background/Aims: It is known that growth hormone regulated metabolic processes, including lipid metabolism and the amount of adipose tissue. The purpose was to study metabolic rates at rest in children with growth hormone deficiency (GHD) and their relationship with lipid and hormone levels.Objective: To analyse the body composition and resting metabolic rate (RMR) among prepubertal children with GHD<p class="abstext...

Background: Transient hypothyroxinaemia of prematurity (THOP), defined as low levels of FT4 without the expected TSH surge, may concern up to 50% of infants born <30 weeks’ gestational age. Most studies showed a link between THOP and impaired neurodevelopment, as shown in the review of Eerdekens. Data about the benefit of supplementation are scarce, with few randomised trials and inconclusive results. To date, there are no clear recommendations regard...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...