ESPE Abstracts

Objectives and Study: To compare the bone mineral density (BMD) between children with cow milk protein allergy (CMPA) and those who are healthy as control subjectsMethods: This study was carried out on forty children with cow milk protein allergy attending the Alexandria University Children's Hospital nutrition clinic and compared to forty apparently healthy children of matched age and sex as a control group. Anthro...

Background: The etiology of bone disease in thalassemic patients is multifactorial. Factors such as hormonal deficiency (especially gonadal failure), bone marrow expansion, increased iron stores, desferioxamine toxicity, calcium, and vitamin D deficiency seem to have a serious impact on impaired bone metabolism in this disease.Objectives: To estimate the frequency of calcium homeostasis abnormalities in adolescent thalassemic patients, and to investigate...

Introduction: Genetic alterations within the cAMP/PKA pathway, including the genes GNAS, PDE11A, PDE8, PRKAR1A/B, and PRKACA, result in a spectrum of adrenocortical disorders. To date, somatic PRKACA variants and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While variants within the PRKAR1A ge...

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...

Objective: The complex clinical phenotypes arising from HNF4A and HNF1A mutations are similar and include diazoxide-responsive CHI from infancy and maturity-onset diabetes of the young (MODY) from adolescence. We aimed to characterise the clinical and genetic aspects of a cohort of paediatric patients with HNF4A or HNF1A mutations.Methods: Patients from five international centres over ...

Background: Compared to children without the disease, children with food allergy are stunted, which is positively correlated with the amount of food eliminated and the duration of the diet.Objective: To compare the effect of an elimination diet on growth between children with cow milk allergy and those who are healthy as control subjects.Subjects and Methods: This study was carried...

Bardet-Biedl syndrome (BBS) is a multiorgan genetic disease which is a part of ciliopathies. The HAS (Haute Autorité de santé) published in March 2019 a new National Diagnostic and Care Protocol for Bardet Biedl syndrome. However, in practice, we face the difficulties of screening and multidisciplinary care of different complications.We report our experience with siblings composed of an eight-year-old boy and an 18-month-old girl suffering from...

Objective: The A1C assay, expressed as the percent of hemoglobin that is glycated, measures chronic glycemia and is widely used to judge the adequacy of diabetes treatment and adjust therapy. Day-to-day management is guided by self-monitoring of capillary glucose concentrations (milligrams per deciliter or millimoles per liter) as well as by using continuous glucose monitoring systems (CGMS). We found a mathematical relationship between A1C and average glucose (AG) levels meas...

Introduction: In girls, precocious puberty is defined as the sign of secondary sexual characteristics occurring before the age of 8 years in Caucasian girls. Type 1 diabetes (T1D) is a rare association with precocious puberty. We discuss through this case, the involvement of type 1 diabetes mellitus in the onset of early puberty from a review of the literature.Observation: We report the case of precocious puberty in a 6-year-old girl followed for T1D sin...