ESPE Abstracts

Introduction: Growth prediction algorithms (i.e. iGRO), provide an estimate of a patients’ likely growth in the first year, and subsequent years, of GH treatment at a given dose, taking into account the patient’s combination of physical characteristics. Comparing a patient’s actual growth with their predicted growth after the first year of GH treatment, it is possible to determine whether the patient is responding to GH as expected (Index of responsiveness; IoR)...

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

Background: Most reports on gonadotoxicity associated with chemotherapy of acute lymphoblastic leukemia (ALL) comes from studies in adults, and they are mainly focused on the sensitivity of testicular germ cells. Little attention has been placed on Sertoli cells in prepubertal patients, even though Sertoli cell function is essential for adult spermatogenesis.Objective: To evaluate Sertoli cell function in prepubertal boys who receive chemotherapy for ALL...

Background: Kallmann syndrome (KS) is a rare clinical entity, characterized by the association of hipogonadotropic hypogonadism and hypo/anosmia, with an estimated prevalence of 1:8000 in males and 1:40 000 in females.Method: Retrospective study of cases of KS diagnosed in paediatric age. Genetic analysis was performed by PCR and DNA sequencing of KAL1, FGFR1, GNRHR, GNRH1, PROK2, PROKR2, KISS1R, TAC3, TACR3, and FGF8 genes.Results...

Background: CHRYSTAL (Costs and Health Related qualitY of life Study for Type 1 diAbetes mellitus pediatric patients in Spain) is an observational study conducted in 2014 on a representative sample of 275 patients aged 1-17 years with Type 1 Diabetes Mellitus (T1DM) in Spain.Objective and hypotheses: One of the objectives of the study was to describe the adherence to diabetes care using the Self Care Inventory (SCI), and to compare results by HbA1c level...

Background: Costs and health related quality of life study for type 1 diabetes mellitus (CHRYSTAL) pediatric patients in Spain is an observational study conducted in 2014 on a representative sample of 275 patients aged 1–17 years with type 1 diabetes mellitus (T1DM) in Spain. The study collects diabetes specific health related quality of life (HRQoL) using the Diabetes Module of the Pediatric Quality of Life Inventory (PedsQL). This scale has been identified to be one of ...

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Introduction: it has been widely demonstrated that high physical activity (PA) levels prevent obesity development. The practice of moderate, regular PA reduces abdominal obesity, hypertension, insulin resistance, dyslipidemia and improves risk factors for obesity-related comorbidities (e.g. diabetes or cardiovascular diseases) independently of weight loss. However, in the childhood population, where sedentary behavior has increased in recent decades, few studi...

Background: 16p11.2 microdeletion is most common chromosomal anomaly associated with syndromic obesity. The presence of a large number of flanking segmental duplications/low-copy repeat sequences with a high degree of sequence identity in the short arm of chromosome 16 (16p) leads to recurrent deletions and duplications as a consequence of non-allelic homologous recombination. A recurrent 600kb microdeletion is one of the most frequent genomic imbalances in 16...

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...