ESPE Abstracts

Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is est...

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: Beckwith–Wiedemann Syndrome (BWS) is a clinical and genetically heterogeneous entity encompassing overgrowth and variable manifestations. Early diagnosis of BWS is crucial due to the increased risk for developing embryonal malignancies (mainly below 5 years of age).Objective: We aimed to screen the presence of underdiagnosed BWS among ‘non-syndromic’ obese children.Method: We studied 159 children (95 male...

Introduction: Alström syndrome is a rare autosomal recessive disorder characterized by type 2 diabetes, early-onset obesity, hypogonadism, dyslipidemia, progressive retinal degeneration, sensorineural hearing loss, cardiomyopathy and renal failure.Case Report 1: A 13 years-old girl consulted because of high blood glucose (442 mg/dl). HbA1c was 8.9%, C-peptide was 4.5 g/dl, insulin was 17.5 μU/ml, insulin antibodies were negative. The parents we...

Background: The main cause of secondary adrenal insufficiency (SAI) in children is prolonged treatment with exogenous corticosteroids. plasma cortisol (PC) levels after administration of ACTH is the most used indicator of adrenal function in clinical practice. However, salivary cortisol (SC) levels is emerging as an alternative technique in the diagnosis of adrenal pathology, especially useful in the paediatric population because it is a simple noninvasive test.<p class="a...

Background: Cystic fibrosis-related diabetes (CFRD) and glucose abnormalities have a negative impact on pulmonary function and survival in cystic fibrosis (CF) patients. Oral glucose tolerance test (OGGT) is the screening test of choice for CFRD, although undetected high glucose levels can be missed with this test. The use of a continuous intersticial fluid glucose monitoring system (CGM) can be useful in these patients.Objective and hypotheses: To deter...

Background: The central melanocortin system is highly involved in the control of energy metabolism, receiving and integrating numerous metabolic signals, such as leptin, and biallelic mutations in several genes of the pathway have been reported in severe obesity. However, whether and how heterozygous rare sequence variants (hetRSVs) in genes of this satiety pathway contribute to the development of obesity is poorly explored.Objec...

Introduction: childhood obesity constitutes a relevant problem of public health. Body mass index (BMI) is the most used anthropometric parameter for its definition: >2 z-score deviation (SD) according to age and sex for reference charts. Recent studies have proposed triponderal mass index (TMI) to identify metabolic risk by obesity. TMI presents the advantage to be a constant value simplifying the calculations.Aims: determine the use...

Introduction: Turner syndrome (TS) is a genetic condition with different phenotypic expressions depending on karyotype. Due to genetic prenatal testing, its prevalence is getting lower. The objective was to analyze the presence of different comorbidities associated with TS according to the karyotype and evaluate if there is follow-up in adulthood.Methods: Descriptive retrospective study including all the patients genetic...

Hypopituitarism refers to the insufficient secretion of one or more pituitary hormones. If default is present at the time of birth is called congenital hypopituitarism (CH). Causes of this are perinatal pathology and genetic alterations. The clinical presentation is heterogeneous. The diagnosis is made by clinical suspicion supported by hormonal determinations, brain imaging test (MRI) searching of structural defects and genetic study. The development of the pituitary gland is...