ESPE Abstracts

Background: Obesity is one of health problems worldwide. Acanthosis nigricans has been considered as a symptom of hyperinsulinemia in children.Objective and hypotheses: We designed this study to evaluate and compare clinical and laboratory findings in Iranian obese children with and without acanthosis nigricans.Material: Seventy-one obese children enrolled. Fasting blood sugar, total cholesterol, triglycerides, alanine aminotransfe...

Background: Growth is a multifactorial process involving genetic, nutritional and other environmental determinants. Because of a major proportion of ultimate stature is dependent upon an intact GH and IGF1 axis, much attention has been devoted to abnormalities related to these growth factors and their signalling pathways.Objective and hypotheses: At the tissue level, the action of GH result from the interaction of GH with a specific cell surface GH recep...

Background: McCune–Albright syndrome (MAS) is a complex disorder characterized by the triad of fibrous dysplasia of multiple bones, café-au-lait skin macules and endocrinopathies.Objective and hypotheses: Long-term treatment of a boy with gigantism due to MAS.Method: Case report.Results: We present the clinical course of a now 14 years old boy with MAS and GH excess, clinical signs of precocious pub...

Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited endocrinal disorders. Steroid 11β hydroxylase deficiency (11βOHD) is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100 000–200 000 in overall population.Objective and hypotheses: To detect 11β hydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings su...

Background: Congenital proopiomelanocortin deficiency (POMC) gene mutations cause early-onset obesity, hyperphagia and ACTH deficiency. In the subjects with this picture, neuropsychiatric (NP) features were rarely reported. Many Authors described an appetite loss during the topiramate treatment.Objective and hypotheses: To discuss NP features observed in a POMC deficient patient and to propose a therapeutic attempt to reduce the hyperphagia.<p class=...

Background: Expression of SHOX, a transcription factor implicated in skeletal development, is regulated by the interaction of two promoters, weak, P1 (exon 1) and strong, P2 (exon 2), with at least, seven enhancers. SHOX haploinsufficiency, due to mutations in SHOX or its enhancers, explains ~70% of Leri-Weill dyschondrosteosis (LWD) and ~2.5% idiopathic short stature (ISS) cases whilst the underlying molecular mechanism in the remaining is unknown.<p...

Background: SHOX, located on the pseudoautosomal region 1 (PAR1), encodes a transcriptional factor implicated in human skeletal growth. Alterations in SHOX or its regulatory elements are observed in ~70% of patients with Leri–Weill dyschondrosteosis (LWD), in ~90% with Langer mesomelic dysplasia (LMD) and ~2.5% of patients with idiopathic short stature (ISS). SHOX deletions/duplications are a frequent alteration, with the majority encompassing the entire gene.<p class...

Background: Hypoglycaemia represents a common issue in diabetic children, and the achievement of good metabolic control together with the avoidance of hypoglycemia remains a tightrope walk. As hypoglycaemia is not always recognised, data about hypoglycemia frequency are limited.Aims: We previously reported about nocturnal hypoglycaemia in diabetic children. This study now focusses on the frequency and duration of hypoglycemia at daytime and risk factors ...

Introduction: In the last year, the pediatric services have seen a reduction of up to 50% of the consultations and 1/3 of the admissions to the hospitalization ward; However, the existence of other pathologies cannot be forgotten despite the current situation, such as hypothyroidism, diabetic ketoacidosis, short stature, precocious puberty, etc., as far as endocrinology is concerned. Difficulty in accessing primary care, non-contact visits, along with the fear of families to g...

Background: HRQoL has been acknowledged as an essential health outcome measure. Studies have shown that enhancing the HRQoL and well-being of children with diabetes is as important as metabolic control in preventing secondary morbidity. Objectives: to evaluate HRQoL of children and adolescents with T1D managed at our institute and investigate factors (patient and disease-related) associated with HQoL scores.Methods: a cr...