ESPE Abstracts

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...

Objective: To estimate the prevalence of Celiac disease (CD) and autoimmune thyroid dysfunction (AITD) in children with Type 1 Diabetes.Study Design: The analysis included 177 (83 girls, 94 boys) children and adolescents with a diagnosis of Type 1 Diabetes who were followed up for a duration of more than 2years at Sir Ganga Ram Hospital, a tertiary care hospital in Northern India.Results</s...

Background: Diabetes Mellitus is the leading cause of morbidity and mortality especially in under developed countries like Pakistan. In type 1 Diabetes, there is autoimmune destruction of β cells which is genetically transmitted. Various factors are responsible for this autoimmune process like early use of cow’s milk, allergic food, absence of breastfeeding and various other factors.Objective: Our study aims to investigate the role of breastfee...

Prader Willi Syndrome (PWS) is characterized by hypotonia, developmental delay, short stature, small extremities, characteirstic facies, hyperphagia, obesity, hypogonadism, obstructive sleep apnea and other behavioral problems. We report twelve cases of PWS (four females, eight males) in the age group of 1–18 years being treated at Sir Ganga Ram Hospital, a tertiary care center in Northern India. In males, seven (87%) had cryptorchidism; in females, one (25%) had labia mi...

Background-Aim: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by defects in the steroidogenic pathway of the adrenal cortex. In their most severe forms, they produce adrenal insufficiency and virilization of external genitalia when involving the terminal enzymes of the cortisol and aldosterone synthesis pathway (21-hydroxylase (21-OHD, OMIM#201910) and 11-hydroxylase (11-OHD, OMIM#202010) deficiencies). Mutations of <e...

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

Background: COVID19 Lockdown resulted in an extreme change in daily lifestyle with a significant increase in weight and loss of quality of life, as well as an increase in the risk of secondary health conditions even in young people. One reason for this is a fatal change in the nutritional situation, especially among adolescents. Convincing models to counter this problem are missing so far. Multiprofessional training programs could reveal an outstanding effect ...

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of short stature. Diagnosis is based on low basal IGF1 concentration, short stature, normal or elevated growth hormone concentrations and absence of any secondary causes of growth failure. Thanks to advances in next-generation sequencing (NGS) technologies, genetic etiology of SPIGF1D is expanding.Objectives: • Identify th...

Background: Growth-and-differentiation factor-15 (GDF15) is a regulator of energy homeostasis, and is used as biomarker of several pathological states.Objectives: To assess longitudinally GDF15 concentrations in a cohort of infants born either appropriate- (AGA, n=70) or small-for-gestational-age (SGA, n=33), the latter known to be at increased risk for central adiposity and metabolic alteration...