ESPE Abstracts

Introduction: 49,XXXXY polysomy incidence is about 1 per 85000 to 100000 male births. As a rare condition with medical problems affecting different systems it should be evaluated under a multidisciplinary approach. We have reviewed the clinical characteristics of patients with this anomaly from all the country who contacted the program for evaluation.Methods: In 2016 we started a multidisciplinary program for the care of patients with sex chromosomal ane...

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

Background: The childhood obesity is a common reason for consultation, due to the increase of this disease in our society, the instruction of the patient and the family consumed many resources.Objective: Study the obese children who attended during the year 2012 valuing the results at 4 and 8 months.Method: 37 obese children(SDS >2), valuing sex, age, family history (FH), anthropometrics measures at birth and the time of the st...

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

Objective: To evaluate the pancreatic reserve and metabolic control in our patient diagnosed of type 1 diabetes over the last 20 years.Method: Retrospective cohort study of all patients <15 years, diagnosed in our community between 01/01/1995 and 31/12/2014. Variables: gender, age at diabetes debut, age at study, c-peptide after stimulation with glucagon at debut and 1 month after, HbA1c at debut, 1 month, 1 year, 2 years, 5 and 10 years of debut. Co...

Introduction: In 2009/2010 Hospital Virgen del Rocío, Seville, Spain changed the treatment of patients with GH deficiency (GHD) from various original recombinant human GH (rhGH) to a biosimilar rhGh (Omnitrope®, Sandoz).Objective: To evaluate the consequences on growth parameters of switching treatment, from original rhGHs to Omnitrope® in children with GHD, in a window period of 36 months.Metho...

Background: Mauriac Syndrome (MS) is currently an extremely rare complication in type 1 diabetes mellitus (DM1). It is characterized by the triad: poor metabolic control, dwarfism and hepatomegaly. Other findings are elevated transaminases, dyslipidemia, cushingoid features and delayed puberty.Case: Male patient with DM1 since 5 years age. Coinciding with a family breakdown, from the age of 7 his metabolic control deteriorated significan...

Introduction: In the last years, the prevalence of high blood pressure (HBP) has increased in children, contributing to raise the risk of future cardiovascular disease. It is known that family history, pregnancy characteristics and type of feeding in the first months of life are of great importance in the prevention of diseases in the offspring. In this study we aimed to investigate the association between early life risk factors and HBP in children and adolescents.<p clas...

Background: Neonatal hypocalcemia is defined when the total calcium levels are under 8 mg/dl (Ionic Ca < 1.1 mmol/l) in the full-term newborn, and under 7 mg/dl (Ionic Ca < 1 mmol/l) in the preterm. The fetus entirely depends on the maternal contributions of 25-OH-vitamin D, whose levels are directly correlated with diet and solar exposure. The largest transfer in calcium and vitamin D occurs in the third trimester of gestation, so prematurity is an important risk fact...

Background: The presence of a thyroid nodule (TN) is a rare clinical condition during childhood and adolescence. In children, classically was considered malignant and total thyroidectomy was recommended whenever a TN was detected or in the case of cold nodules. There are not long time series in children, but recent clinical guidelines recommend an initial management as in adults.Objective and hypotheses: Review TN in children in our area.<p class="ab...