ESPE Abstracts

Introduction: Although short stature is common in boys with Duchenne Muscular Dystrophy (DMD), little information on body proportions and the GH/IGF-1 axis exists.Methods: Total height (Ht), sitting height (SH), leg length (LL) and bone lengths (femur, tibia, humerus) in boys with DMD (n=30) and healthy boys (n=79) were measured using DXA digital images by 1 observer. Insulin growth factor-1 (IGF1), IGF binding protein-3 (IGFBP-3) and a...

Background: Transsexuality during childhood/adolescence is a complex condition usually ending in dysphoria (GD). The prevalence of transgenderism is increasing in Pediatrics. In the process of sexual reassignment, a correct pharmacological treatment and the knowledge of possible consequences are necessary.Objetive: The objective of this study is to present the evolution of the physical and analytical characteristics and side effects in Transgender childr...

Background: Management of patients with CAH remains challenging. There is increasing evidence to suggest that failure to optimize treatment during childhood not only affects final height but also leads to psychological and psychiatric problems. Previous qualitative structural T2-weighted MRI studies have identified white matter hyper-intensities in up to 46% of CAH patients. The nature and functional relevance of these abnormalities remains unknown.Objec...

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

Background: An increasing need for non-invasive, out-patient based investigations has necessitated a re-evaluation of urinary gonadotrophins (uGn) for assessing puberty.Objective: Prospective evaluation of the relationship between first morning uGn measured by immunoassay and corrected for creatinine (uLH:uCr; uFSH:uCr), and basal serum gonadotropins (sLH, sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients rec...

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

Background: The diagnosis of GH deficiency in children is based on clinical, auxological, radiographic and biochemical criteria which include response to Pharmacological Estimulation Tests (PhT). It is well known that GH concentrations vary according to the assay method used. Currently in our population, the proposed cut-off value of serum GH PhT is 4.7 ng/ml measured by ICMA using the IRP 98/574.Objective and hypotheses: The aims of this study were to d...

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...