ESPE Abstracts

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

Background: Heterogeneity in reported outcomes limits the ability to compare results of studies evaluating hypospadias surgery.Objective: To identify a core outcome set (COS), a minimal number of defined outcomes, to be routinely measured and reported in all trials across the age span following hypospadias surgery.Materials and Methods: A study protocol was drafted and the study re...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Children with early signs and symptoms of Type 1 Diabetes need to be diagnosed promptly, before they become acutely unwell with diabetic ketoacidosis (DKA). Early diagnosis and optimal management of established DKA is key to reducing morbidity and mortality. To follow the evidence based standards. To assess whether the newly diagnosed type 1 diabetes were in DKA at presentation or not. To assess compliance to guidelines on admission. As per retrospective cohort study, charts o...

Case report: Atypical presentation of adrenal insufficiency: 13 year old presented with vomiting (one day), lethargy two weeks. mild dehydration, vitals stable, generally healthy, examination unremarkable, medication nill, history of insect bite two weeks ago, no allergies, started on I. V maintenance fluids, investigations (blood) normal, the only abnormal was low soduim, normal glucose and potassium, soduim was 122 mol/l, repeated soduim was 119 after the maintain ace 0.9% n...

Congenital hyperinsulinism (CHI) is characterised by the dysregulation of insulin secretion leading to severe hyperinsulinaemic hypoglycaemia. Recent advances in molecular genetics have provided unique insights into understanding how insulin secretion becomes unregulated in CHI. Abnormalities in the genes ABCC8/KCNJ11 (encoding the two components SUR1/KIR6.2 of the pancreatic β-cell KATP channel respectively) is the most common genetic causes of CHI. Histologically there ...

I have chosen 3 manuscripts for my year book presentation on antenatal and neonatal endocrinology. The first manuscript describes the use of induced pluripotent stem cells (iPSCs) to study the genetic mechanisms of congenital hyperinsulinism (CHI). The derivation of iPSCs and their subsequent conversion to islet like clusters from a patient with diffuse CHI due to a homozygous mutation in the ABCC8 provides a unique opportunity to study the molecular basis of CHI and ...

Term male baby delivered by elctive c- section.On examination found to IUGR, hypotonic and microphallus less then 2 cms (stretched).Both testis were palpable. No other dysmorphic features noticed. Cranial ultrasound showed sub-ependymal cysts in the frontal region. Parents were concerned regarding his small penis. He was referred to physiotherapy for his low tone and had genetic and metabolic work up done for his persistent low tone. The testosterone levels were found to be lo...

Background: Acrodysostosis Type 2 (ACRDYS2) is a rare autosomal dominant skeletal dysplasia associated with intellectual disability and gain-of-function mutations in the phosphodiesterase type 4D gene (PDE4D) which, in turn, leads to a paucity of intracellular cAMP due to increased PDE4D activity. This increased PDE4 activity may be due to a greater existence of a mutant monomeric form of PDE4D. To date, the clinical use of PDE4 inhibitors in ACRDYS2 has been ...

Introduction: This was a population-based retrospective data analysis. The study was part of the Vulnerable Newborn Study, approved by the Hamad Medical Corporation Institutional Review Board (IRB No MRC-01-21-277).Setting and Participants: The population for this analysis comprised of a 4-year cohort data (January 2016 to December 2019) for births conducted in all HMC hospitals (representing 90% of all births in the cou...