ESPE Abstracts

Background: Nutritional rickets (NR) is the most common growing bone disease, and vitamin D deficiency (VDD) may predispose to other diseases (diabetes mellitus, cancer, and multiple sclerosis). Maternal VDD and exclusive breastfeeding without supplementation are the most frecuent causes of NR in the neonate. VDD is still a problem in Europe. There are few reports of maternal hypovitaminosis D and rickets in bottle-fed infants during early infancy. We report a case of Nutritio...

Background: One of the limiting factors in adherence to GH therapy, is satisfaction with the administration device used.Objective and hypotheses: With the emergence of a new biosmiliar GH (BGH) administration device, we will assess the simplicity, ease of use, management and pain perceived by the patients.Method: Prospective through survey caregivers and children treated with BGH at least for 6 months. Signed informed consent was r...

Aim: to evaluate sleep quality by accelerometry and its association with anthropometry and biochemical parameters in children and adolescents after a multidisciplinary interventionSubjects Materials and Methods: One hundred and twenty-two children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a multidisciplinary intervention study to lose weight. Abdominal obesity was diagnosed using the waist circumference...

Introduction: Noonan syndrome (NS) is one of a group of diseases known as rasopathies, which share a common molecular substrate: alterations in the RAS-MAPK signaling pathway. NS is characterized by clinical and genetic heterogeneity. Up to 50% of cases are caused by variants in the PTPN11 gene, although more than 10 genes have been identified as involved in the pathogenesis of this disease with marked clinical overlap.Objectives...

Introduction and Purpose: Patients with type 1 diabetes mellitus must be extremely concerned with what they eat and their insulin dose as part of their treatment. Therefore, the risk of eating disorders increases in this patient group. This study, it was aimed to determine the disordered eating behaviors of patients with Type 1 DM and to evaluate the results of the general demographic characteristics, diabetes care behaviors, and quality of life scale that whi...

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

Objective: The incidence of congenital hypothyroidism (CH) has increased worldwide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors to predict the transient CH.Methods: 109 cases referred from the screening program to ou...

Background: McCune-Albright Syndrome(MAS）includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...

Introduction: APECED Syndrome; is a rare, autosomal recessive disease caused by mutations in the autoimmun regulatuar AIRE gene on the chromosome 21. Although classical triad is mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency; endocrine / non-endocrine involvement may also be seen. Possible involvement should be evaluated without any clinical signs. We report a case of APECED syndrome with autoimmune hypophysitis secondary to growth hor...

Introduction: Autoimmune polyglandular syndrome type 1 (OPS1) is characterized by chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenalitis. The mutations in the localized autoimmune regulator gene (AIRE) at 21q22.3 present the etiological cause.Objective: In this case report, two siblings case who were diagnosed with OPS1 with different clinical findings except classic triad were presente...