ESPE Abstracts

Patient satisfaction is of increasing importance and is widely recognized as an indicator of quality of medical care. The aim was to assess children with type 1 diabetes and their families Satisfaction with Healthcare Services.Methods: The study was conducted at Pediatric outpatient clinic, Suez Canal University Hospital, Ismailia Egypt. Eighty children diagnosed with type 1 diabetes for at least 1 year. They were interviewed to obtain t...

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. In 2016, nusinersen (Spinraza) was approved by the FDA. The first AAV9-based gene therapy (Zolgensma), was approved by the FDA (2019) for the treatment of infants with SMA. We report an SMA case with recurrent hypoglycemic events after gene therapy.Case Report: A 22 months old boy, with SMA type 1 was born at term by CS for fetal bradycardia....

Introduction: Mutations in PTPN11 gene accounts for 50-60% of genetically identified patients with Noonan syndrome (NS). This report is of three siblings with familial NS due to mutation in PTPN11. Among the three, two of them have an additional mutation in PLOD1 gene and have normal height. The sibling who is shorter compared to the other two does not have this additional mutation. PLOD1 -related kyphoscoliotic Ehlers-Danlo...

Background: Achondroplasia, the most prevalent skeletal dysplasia in children, is a multisystemic disease resulting from a common mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. This mutation disrupts endochondral ossification, leading to disproportionate short stature. Historically, management has been primarily supportive due to the absence of targeted therapies. However, recent advancements have led to clinical trials for potential treatme...

It is important that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service is critical. The members of this service should be involved in education and training as well as ...

Background: Variability still exist about the growth response to growth hormone (GH) therapy in children with idiopathic short stature We describe the growth response to GH therapy ( 0.05 mg/kg/day) for > 2 years in 20 prepubertal children with idiopathic short stature (ISS) who had slow growth velocity ( < -1 SD), normal GH response to provocation and who were significantly shorter than their mid-parents height SDS MPHtSDS (-1 difference).<p class...

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

Introduction: Diabetic Ketoacidosis (DKA) is one of the acute complications of type 1 diabetes. It is a life-threatening condition that varies in severity and prognosis from patient to another. In Egypt, there is no available data about the socio-demographic characteristics as well as the DKA severity determinants among childrenObjective: 1. To identify demographic, clinical and laboratory variables of pediatric patients diagnosed with DKA at Suez Canal ...

Introduction: Controversy still exists about the effect of GH treatment on linear growth and weight gain (WG) in children with ISS.Aim: To study linear growth and weight gain in children with ISS treated with GH vs those not treated in comparison with treated children with GHD.Methodology: We conducted a longitudinal controlled study on 78 children presented to a pediatric clinic with short stature...

Introduction: A multicenter clinical trial in the US showed that underweight small for gestation (SGA) children responded to GH treatment like non-underweight SGA children. However, data on GH response in short underweight children with the normal birth size is not studied well.Aim: To measure growth response to GH therapy in underweight children versus short normal-weight children with idiopathic short stature (ISS) bor...