ESPE Abstracts

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

Background: Adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD) develop an adverse metabolic and cardiovascular risk profile. Both over- and undertreatment with glucocorticoids are associated with these adverse metabolic effects. There is limited data available of changes in cardiovascular parameters during lifetime.Objective: This study aimed to evaluate unfavorable changes in cardiovascu...

Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Span...

Introduction: In children receiving growth hormone (GH) therapy during puberty, epiphyseal fusion due to sex steroids often limits the height gain. Aromatase inhibitors may seem to help at this point despite the lack of evidence. Herein, it was aimed to investigate the efficacy of anastrozole for add-on treatment in pubertal male patients receiving GH therapy.Methods: This is a retrospective study comparing two groups of...

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

Background: Pelvic ultrasonography (PUS) of the uterus and ovaries allows the diagnosis of changes in sexual development. However, the reference values used in Spain originate from old studies conducted in other countries.Objective: To determine reference uterine and ovarian measurements by PUS and according to pubertal status and bone age in a Spanish population of healthy girls aged between 6 and 12 years.<p class=...

Background: Polycystic ovary syndrome (PCOS) continues to be a diagnostic challenge in adolescent girls. Symptoms like oligomenorrhea and acne, and polycystic ovarian morphology on ultrasound can be normal variants in adolescents. In addition to diagnostic difficulties, there is lack of randomized controlled trials for PCOS treatments specific to adolescents. Current guidelines for diagnosis and management of PCOS in adolescents have large variations and rely ...

Background and Methods: PCOS is common in adolescents and imparts a significant health and economic burden. Yet, our understanding of its complex pathogenesis is lacking. Proteomic analyses would be a valuable tool to deepen our knowledge of the biological pathways which underpin PCOS, and to identify novel biomarkers to diagnose and monitor this common condition. Therefore, we undertook a deep phenotyping discovery proteomic profiling (nano-2D-LC-QTOF MSe) on...

Aim: to study sleep quality, using accelerometry in children and adolescents with abdominal obesity after a multidisciplinary intervention.Patients, Material and Methods: we included 122 children and adolescents, range age: 7 to 16 years old, diagnosed with abdominal obesity (waist circumference > p90) who participated in an 8-week intervention program to lose weight, with a 2-year follow-up period. Participants were...

Objective: Growth hormone (GH) is a central hormone for regulating linear growth during childhood and also highly involved in metabolism of lipids, carbohydrates and protein. However, few studies report on how treatment with GH during childhood influences metabolic parameters. Our aim was to investigate metabolic effects of different doses of GH in short children with GH peak levels in the low normal range.Design: Thirty...