ESPE Abstracts

Introduction: Recombinant GH is an effective treatment for short children who are born small for gestational age(SGA). Short children SGA who fail catch-up growth by 4 years of age are candidates for GH treatment, at a dose of 35–70 μg/kg per day. Factors associated with response to GH treatment during the initial 2–3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. It is important to kno...

Background: Studies aimed at elucidating the pathophysiology of obesity consistently describe it as a highly heterogeneous disorder at both clinical and molecular level. Despite rare monogenic forms and several regions of susceptibility have been defined, the genetic causes underlying the disease remain largely unknown.Objective and hypotheses: We aimed to identify novel genetic abnormalities in a cohort of Spanish children with severe non-syndromic earl...

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by hyperphosphatemia and abnormal deposit of phosphate and calcium most often around the hips, shoulders and elbows and rarely in the brain.Case presentation: A four-year-old-girl from Arabian origin was referred to the regional paediatric endocrine clinic from the Orthopedics Team due to: recurrent calcinosis of the right calcaneus and incipient left wrist pain...

Background: Acromesomelic dysplasia Maroteaux type (AMDM) (OMIM 602875) is a rare autosomal recessive skeletal disorder with an approximate prevalence of 1/1,000,000) and characterized by severe dwarfism accompanied by shortness of distal and middle segments of extremities. Mutations in the NPR2 gene which encodes for the natriuretic peptide receptor B (NPR-B) is the underlying genetic cause of this disorder.Objective and hypotheses: Genetic con...

Background: Insulin/IGF1 signaling plays a critical role in central glucose bioavailability and lipid metabolism. An increase in glucose disposal can generate reducing agents through the pentose-phosphate pathway necessary for the synthesis of free fatty acids (FFA). Disturbances in lipid synthesis are related to the appearance of insulin resistance and diabetes. The insulin receptor substrate 2 (IRS2) deficient mice (IRS2−/−) is an excellent model to st...

Background: The GH/IGF1 axis has important roles in growth, metabolism, lipid profile and body composition. GH receptor disrupted mice (GHRKO mice) are resistant to the action of GH, thereby, GHRKO mice are dwarf, hypoinsulinemic, hypoglycemic and obese. Consumption of a high fat diet (HFD) induces inflammatory processes in a multitude of peripheral tissues, including hypothalamus.Objective and hypotheses: Our aim was to evaluate the effect of HFD intake...

Background: The Spanish Registry PUBERE was created (2007) with 53 hospitals.Objective and hypotheses: i) To determine the chronological age (CA) and bone (BA) at GnRH analogue withdrawal; ii) to analyze the age at menarche and time elapsed after stopping treatment; and iii) to know adult height data.Method: Patients with central precocious puberty (CPP) born after 1992, diagnosed before 8 years in girls, with BA/CA >1 year and...

Background: It is well known that ingestion of a high fat diet (HFD) can induce rapid weight gain and metabolic imbalances. However, males and females are not equally susceptible to these effects. Furthermore, an individual may be more prone to gain weight during specific developmental periods.Aims and objectives: We aimed to analyse the response to the acute exposure to a HFD during pubertal/adolescent period and to determine whether males and females r...

Background: In a Phase 3 trial in participants with obesity due to Bardet-Biedl syndrome (BBS) and Alström syndrome, setmelanotide was associated with significant reduction from baseline in body weight and hunger at Week 52 (primary endpoint), with outcomes driven by responses in individuals with BBS.Methods: In the same trial (NCT03746522), individuals with BBS or Alström syndrome were randomized and received ...

The melanocortin-4 receptor (MC4R) pathway is critical for the regulation of hunger, energy balance, and weight regulation. Individuals who carry variants in MC4R pathway genes may present with early-onset severe obesity and hyperphagia. Historically, genetic testing in individuals with severe obesity has been limited. The Rare Obesity Advanced Diagnosis™ genetic testing program aims to enhance access to genetic testing for European individuals with suspected rare geneti...