ESPE Abstracts

Background: Precocious puberty is defined as pubertal development that begins at an earlier age than expected; most paediatric endocrinology subspecialists use cutoff ages of 8 years for girls and 9 years for boys.Objective and hypotheses: We reported in this case, rare association between type 1 diabetes mellitus and precocious puberty.Method: We present a girl with type 1 diabetes developed at the age of 3 years, with good glycae...

Background: Mutations in CYP19A1 gene have been described in both females and males and to date only 20 cases with aromatase deficiency have been reported. In newborns, aromatase deficiency should be considered in the aetiology of 46, XX DSD, after ruling out congenital adrenal hyperplasia.Objective and hypotheses: Report of a case with CYP19A1 mutation.Method: Here we report a patient who was presenting at the age of 20 years old ...

Introduction: Post-operative management of fluid and electrolyte imbalance after surgery for pituitary or suprasellar tumors could be challenging. Post-operative course could include diabetes insipidus (DI) (transient or permanent) or a classical triphasic response (initial phase of DI followed by a second phase of transient SIADH and third and final phase of permanent DI). Mainstay of management of SIADH in these patients involves fluid restriction. At times,...

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...