ESPE Abstracts

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...

Introduction: Childhood cancer survivors (CCSs) has increased risk of endocrine complications, of which, abnormal growth and hypothyroidism are the commonest. The risk of developing endocrinopathy will vary according to different host factors including type of tumour and factors related to treatment modalities including chemotherapy, radiotherapy, surgery and bone marrow transplantation. we aim to assess the prevalence and associated risk factors of early deve...

Central diabetes insipidus (CDI) is the end result of a number of disorders that affect the hypothalamic-neurohypophyseal region (HPR). The diagnosis of the underlying condition despite the use of new biochemical parameters including copetin is challenging and raises several concerns for patients and parents as it requires long-term follow-up. Thus, a proper etiological diagnosis can be achieved via a series of steps that start with clinical observations and then progress to m...

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...

Introduction: Milk allergy is an adverse immune reaction to proteins in cow's milk. Treatment consists of eliminating milk from the diet. Controversy exists about the effect of CMA and the use of hypoallergenic formula on linear growth in these children.Objectives: To evaluate the growth status of children with CMA at their first presentation and after 6 months of hypoallergenic formula.<strong...

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

Background: Transient hyperinsulinemic hypoglycaemia (THH) is associated with risk factors such as prematurity, maternal diabetes mellitus, perinatal hypoxia, small for gestational age (SGA) and syndromes like Beckwith Wiedemann syndrome (BWS).Objective: To present the features of a large cohort of patients with THH managed at a Quaternary referral centre.Method: Patients who had neonatal onset HH that resolved before the 2nd birth...

Osteogenesis imperfecta is a heritable systemic disorder of bone and connective tissue. Acceptance of children and their family is associated with medical, growth, developmental conflicts, physical, social and emotional. The study about impact of OI in children’s quality of life is still limited. Aims is to analyze PedsQL score in OI children in Dr. Soetomo Hospital, Surabaya.Methode: This study is a cross sectional study held in pediatric endocrine...