ESPE Abstracts

Case 1: Twelve-year-old girl, presented with symptomatic hypoglycemia at the age of four. At six, she has type 1 diabetes mellitus (T1DM) started on insulin pump with excellent glycemic control. Genetic testing sent suspected MODY, revealed heterozygous variant in WFS1 gene, representing autosomal dominance inheritance. She screened for WFS associated disorder; negative.Case 2: Eighteen-year-old male with T1DM on insulin...

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

SLDP is where the onset of puberty is more than 2-2.5 standard deviations later than the population mean age and is often familial with strong genetic determinants. The reproductive axis is regulated by gonadotropin-releasing hormone (GnRH), which plays a crucial role in initiating puberty and maintaining fertility through its pulsatile secretion. Disruption in GnRH neuron development or hypothalamic function can lead to DP. UK Biobank data has identified negative health outco...

Raine Syndrome (RS) caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. RS usually lethal during neonatal period due to severe respiratory distress. However, a non-lethal RS form existed with very limited description in literature.Objective: To increase awareness about non-lethal RS form.Case Description:</strong...

Introduction: Hypophosphatasia is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. However, there is variable presentation from asymptomatic to severe presentation.Case: Seven-Year-old boy presented at age of 2 weeks with excessive crying. On evaluation he was found to have low Alkaline Phosphatase (ALP) level. The parents are consanguineous with negative ...

Background: Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycaemia in infancy.Case presentation: Here we describe an Egyptian male neonate first order of birth born to non-consanguineous healthy parents. At day 1 of age he presented with severe hypoglycemia and generalised seizures. At the time of hypoglycaemia (16 mg/dl) insulin and C-peptide levels were increased (insul...

Background: Congenial Leptin deficiency (CLD) manifests as severe obesity, hyperphagia, and metabolic complications. While Metroleptin is the treatment of choice, its cost makes it inaccessible for many. We present two sisters, aged 14 and 7, diagnosed with CLD, who had significant improvement with the glucagon-like peptide-1 (GLP-1) receptor agonist, Semaglutide. Both experienced notable reduction in body weight and metabolic markers with Semaglutide, highlig...

Background: There are multiple factors affecting fetal growth, including maternal, fetal, placental and other environmental factors. Insulin like growth factor-1 ( IGF-1) has a major role in promoting fetal and post-natal growth. It is also proven that IGF1 promote brain, inner ear and retinal development.Case: We report a 9-years old boy born at 31 weeks of gestation to a consanguineous parents by cesarean section for s...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, therapy includes daily oral phosphate and active vitamin D analogue (alfacalcidol or calcitriol) supplementation, but is associated with gastrointestinal side...

Gonadotrophin Releasing Hormone agonists (GnRHa) are used in the management of true precocious and early onset puberty. They have been associated rarely with severe adverse effects such as slipped capital femoral epiphysis, sterile abscess formationand anaphylaxis. Anaphylactic reactions had been reported at a low incidence rate. They can occur early or late after starting treatment or be recurrent after an injection due to the analogue's long half-life.The allergic reacti...