ESPE Abstracts

Background: Diffuse congenital hyperinsulinism in infancy (CHI-D) mainly arises from mutations in KATP channel genes. In addition, there are also several reports of increased cell proliferation in CHI-D. We hypothesised that the higher rates of proliferation in CHI-D are as a consequence of failure to terminate proliferation in the neonatal period.Objective and hypotheses: To test this we examined the proliferative index (PI) of CHI-D tissue a...

Maternal obesity is the most common metabolic disturbance in pregnancy affecting more than 1 in 5 women in some regions. Obesity has short term risks during pregnancy for both mother and child, with increasing evidence demonstrating that there are also longer term risks of these exposures in pregnancy impacting on health of the offspring across the lifespan. Consistent and increasing evidence demonstrates a range of adverse health outcomes for offspring born to mothers who are...

Background: Aminoacyl tRNA synthetases (ARSs) are enzymes that bind amino acids to tRNAs, and many of their genetic variants are known to be pathogenic. Asparaginyl Aminoacyl tRNA synthetase (NARS1) deficiency was first reported as a cause of microcephaly in 2020. NARS1 deficiency is characterized by microcephaly, psychomotor retardation, epilepsy, congenital abnormalities of the limbs and skeleton, and a peculiar facial appearance. However, there have been no...

Background: Endocrine deficiencies, including impairment of the hypothalamic-pituitary-gonadal axis (HPGA), are found in the majority of survivors of medulloblastoma, due to high-dose craniospinal irradiation and gonadotoxic chemotherapy. Data regarding HPGA function in survivors of medulloblastoma is limited to small groups of patients and focusses mainly on female survivors. Furthermore, few studies investigated specific risk factors such as treatment protoc...

Background: Heterozygous de novo variants in SAMD9 cause the complex multisystem growth disorder, MIRAGE syndrome. Core features are myelodysplasia, infection, restricted growth, adrenal hypoplasia, genital/gonadal phenotypes, and enteropathy. However, the range of additional associations is expanding and includes disrupted placental development, poor post-natal growth, and other endocrine features. Milder phenotypes are also described, such ...

We report a term male with diazoxide-unresponsive congenital hyperinsulinism (CHI) (spontaneous conception, non-consanguineous, no family history). The patient did not have macroglossia, exomphalos or lateralised overgrowth (cardinal Beckwith-Wiedemann spectrum (BWSp) features) (1). There was no polyhydramnios, macrosomia, facial naevus simplex, ear creases/pits, diastasis recti or nephromegaly/hepatomegaly (suggestive BWSp features) (1).A targeted massi...

Introduction: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic/genetic changes affecting imprinted genes in 11p15.5 region. Phenotypic expression is variable. Hyperinsulinaemic hypoglycaemia is common (30-60%). Persistent, severe, refractory cases are usually associated with 11p15 paternal uniparental disomy, particularly the rare context of a coexisting paternal inactivating KATP channel variant. Those c...

Background: GNAS 1 gene (guanine nucleotide binding protein, alpha stimulating) encodes the alpha subunit of the stimulatory guanine nucleotide-binding protein (G-protein). Variations in the GNAS 1 can cause several disorders including Pseudohypoparathyroisism Type 1A (PHP1A), Type 1B (PHP1B), Type 1C (PPHP1C), Progressive Osseous Heteroplasia (POH), Pseudopseudohypoparathyroidism (PPHP) and McCune-Albright syndrome (MAS).Objectives: To report 2 patients...

Introduction: Gestational diabetes is one of the most common medical disorders and may cause numerous maternal and fetal complications. It constitutes one of the most frequent pregnancy health problems and may cause wide range of complications such as: preterm births, congenital defects, sacral agenesis, hypertrophic cardiomyopathy, metabolic changes and macrosomia in neonates. Therefore, early detection and implementation of guideline-based screening tests, are crucial. One o...

Introduction: The epidemic of childhood obesity has emerged as one of the most serious public health issues since this disease leads to multiple disorders in many systems of the human body and decreases the quality of life and the life expectancy. Plenty of studies have searched for risk factors which cause pediatric obesity and precocious markers of comorbidities which follow obesity.Objective and hypotheses: This study is a cross-sectional and retrospe...