ESPE Abstracts

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...

Background: X-Linked hypophosphatemic rickets (XLH) is a disorder of phosphate homeostasis, characterized by renal phosphate wasting and hypophosphatemia, with normal to low 1,25-dihydroxy vitamin D3 serum levels. PHEX is the gene defective in XLH and different mutations and genomic rearrangements have been described in different families affected by this disease.Objectives: To detect inactivating mutations in the PHEX g...

Introduction: During last years there is an increasing number of referrals because of gender incongruence worldwide. In Argentina, in 2012, a gender identity law was sanctioned, stablishing the right of gender reassignment during childhood, adolescence, youth and adulthood, without the need of previous medical and/or mental health evaluation. This was followed by a great number of referrals. There is scarce literature regarding longterm outcome in transgender persons who start...

Background: Chronic diseases are the main causes of bone mass reduction in childhood and adolescence. Different aspects related to the process of bone acquisition and maintenance may be affected. Studies had point out the presence of bone mass reduction in children and adolescents with HIV infection with association to antiretroviral use, chronological age (CA), weight and serum CD4 T-cell counts. However, others do not.Objective: To evaluate bone minera...

Background: GH treatment is proven to increase adult final height in some pathology and first year response is assumed as an index of treatment’s effectiveness.Objective and hypotheses: Identify the prevalence of each indication in children treated with GH in our hospital and evaluate the first year response to treatment.Method: We retrospectively analysed the files of 30 patients followed for short stature and on GH treatment...

Objectives: -To determine children diagnosed with central congenital hypothyroidism (CCH) by a screening program using TSH and total T4 between May 2016 and January 2019.-To analyze the characteristics of the disease in these children.Material and Methods: During the time of the study, 14.743 newborns have been screened. Cut-off points are used for TSH ≥10MU/ml and T4 6 and 20 mg/dl as lower ...

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in neonates, infants, and children, and is caused by genetic mutations in pancreatic beta-cells. Current therapies are burdensome, have limited efficacy, and are associated with significant morbidity. CRN04777 is a potent, orally-bioavailable, selective SST5 agonist that suppresses insulin secretion in the terminal steps of the insulin secretion pathway and could be useful for patients with con...

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

Case Report: Patient 1: a 3.6-yr-old girl presented with very severe hypertriglyceridemia (serum triglyceride level >1000mg/dL) in random sampling in the first year of life. She presented with recurring episodes of abdominal pain, and splenomegaly. There is no history of consanguineous marriage. Maternal and paternal family had history of coronary events at an early age. A genetic panel showed homozygous variant chr8:19.953.365 C>T (p.Ala162Val) in the l...