ESPE Abstracts

Introduction: Testicular regression syndrome (TRS) also called vanishing testes syndrome is a rare developmental disorder that represents less than 5% of cryptorchidism cases. It is characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS phenotypes are various depending on the extent and timing of the intrauterine accident during fetal sexual development.Material and Me...

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...

Context: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Severe forms of CHI, caused by autosomal recessive variants in KATP channel subunit genes (ABCC8, KCNJ11), are more prevalent in regions with high consanguinity. These regions also have a high neonatal mortality rate with many deaths remaining unexplained.Patients and Methods: We analyze...

Introduction: POU1F1 is an essential transcription factor for the differentiation, proliferation and survival of somatotrophs, lactotrophs, and thyrotrophs. Mutations in the POU1F1 gene are characterized by growth hormone (GH), thyrotropin and prolactin deficiencies, commonly presenting with growth retardation and central hypothyroidism. Since the first report in 1992, about 26 mutations have been identified in POU1F1.<...

Introduction: Statural growth is regulated by multiple genetic, epigenetic and environmental mechanisms. The GH-IGF-1 axis was long believed to be the main linear growth regulator in children until more recent studies showed that the complex regulation of growth plate chondrocytes play an equal role. In order to extend our knowledge about the genes involved in short stature, we studied a unique cohort of children with short stature from consanguineous families...

Background: The polyethylene glycol (PEG) method, which utilizes the addition of PEG to precipitate immunoglobulin fractions in order to measure free thyroid stimulating hormone (TSH), has been implemented as a tool for investigating incongruities in TSH measurement.Aim of the study: To investigate the practical application of PEG-TSH testing in pediatric scenarios with a discrepancy between elevated TSH and normal free ...

Background: Recent guidelines suggest that NCCAH subjects stop their glucocorticoid therapy after achieving adult height. However, these guidelines do not differentiate between genotype groups within the NCCAH population.Aim: Compare ACTH stimulated cortisol and 17-hydroxyprogesterone (17OHP) levels, and the rate of partial cortisol insufficiency in NCCAH subjects carrying one mild and one severe (mild/severe) mutation v...

Introduction: Linear growth is a complex process involving the interplay of genetic, epigenetic, and environmental factors. Current knowledge sheds importance to the GH-IGF-1 axis, chondrocyte regulation and extra-cellular matrix in the growth plate, and other fundamental intracellular processes. Despite these advancements, the genetics of short stature are not fully understood. This study aims to contribute by investigating a unique cohort of children from co...

Background: Primary adrenal insufficiency (PAI) in children is an uncommon condition. Diagnosis is usually challenging especially in resource limited settings where facilities for antibodies and genetic testing are constrained. Many genetic etiologies have been reported in children with PAI due to congenital adrenal hyperplasia (CAH) and Allgrove syndrome are the commonest identified genetic causes to date in Sudan. Studies from Africa are rare and here we des...

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...