ESPE Abstracts

Background: Diabetic ketoacidosis (DKA) is an acute complication of type 1 diabetes mellitus (T1DM) that can be fatal if not properly managed. DKA is a leading cause of mortality in these children, early recognition and prompt treatment should substantially reduce childhood mortality in children with T1DM.Objective and hypotheses: We aimed to identify the risk factors and the most common clinical features of newly diagnosed diabetes in children, in addit...

Background: Iron deficiency anemia (IDA) causes detrimental effects on physical growth which is attributed to poor appetite, altered endocrinologic profile and neurotransmitter metabolism consequent to iron deficiency.Objective and hypotheses: To investigate the iron status of preschool children with IDA and its association with the degree of growth retardation at presentation, and to detect the effect of iron supplementation on growth velocity (GV) over...

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...

Background: Almost all diabetic patients eventually develop skin complications from the long-term effects of diabetes mellitus. Cutaneous manifestations generally appear subsequent to the development of diabetes but may be the first presenting sign, or even precede the diagnosis.Objective and hypotheses: To detect the prevalence and spectrum of skin manifestations in type 1 diabetic (T1D) patients attending the Diabetes Endocrine and Metabolism Pediatric...

Introduction: Congenital adrenal hyperplasia (CAH) is a disorder with a wide spectrum of severity. Impaired cognition has been reported in patients with CAH, although the findings have been conflicting. It has been hypothesized that the major causes of the deficits are prenatal hormonal imbalances and/or excessive glucocorticoid treatment.Objective: The objective of this study was to investigate cognitive function in chi...

FDA licensed the use of human recombinant growth hormone (hGH) in girls with Turner Syndrome (TS) in 1997 as short stature is a consistent feature of this syndrome.Objective: we aimed to assess our 1-year experience of treating short girls with TS, to calculate their growth velocity, to analyze the patients’ characteristics and to investigate the possible factors that might affect their height gain.Me...

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...

Background: Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 46, XY DSD remain unknown in most of the casesAim: To identify genetic defects in patients with 46,XY DSD.Material and Methods: A total 76 DSD patie...

Background: Disorders of sex development (DSD) are a heterogeneous group of disorders related to sex determination and differentiation. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 30–40% of the 46,XY DSD cases are not yet known.Aim: To identify genetic defects in patients with 46,XY DSD.Material and methods: Seventy-six patients with 46,XY DSD were stud...

Background: Desert Hedgehog (DHH) gene acts on early testicu-lar development, testis cord formation and differentiation of fetal Leydig cells. It also has a role in nerve sheath formation. DHH gene mu-tations is a very rare cause of 46,XY gonadal dysgenesis (GD). Gonadal tumors and peripheral neuropathy have been associated with DHH mutations.Aim: To present three patients with 46,XY GD due to novel homozygous DHH muta...