ESPE Abstracts

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...

Introduction: Primary multiple pituitary hormone deficiency (MPHD) is caused by impaired development of the pituitary gland during the intrauterine period. Pathogenic variants in numerous genes affecting pituitary morphogenesis or differentiation have been proven to cause MPHD. However, in most people, genetic examination still fails to bring a conclusive finding explaining the cause of MPHD. The aim of our study was to identify the genetic aetiology of MPHD u...

Objective: This feasibility study aimed to investigate the anabolic effect of insulin on metabolites captured in exhaled breath during acute diabetic ketoacidosis (DKA) for a better pathophysiological understanding.Research Design and Methods: Children and adolescents with type 1 diabetes (T1D) with DKA (n=5) and without DKA (n=7) and children with epilepsy without ketogenic diet (n=18) were re...

Background: Transient neonatal diabetes mellitus (TNDM) is a rare genetic β-cell dysfunction leading to hyperglycaemia that resolves in early childhood. About 80% of patients relapse during adolescence or adulthood. Some of these patients suffer from neurodevelopmental defect. Long-term outcome has been poorly investigated.Objective and Hypotheses: To investigate metabolic and neurologic outcomes in adults affected with TNDM.M...

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...

Background: Subtle phenotypic differences have previously been described among children with varied genetic subtypes of Prader-Willi syndrome (PWS) – 15q11-q13 paternal microdeletion, maternal uniparental disomy (mUPD), and rare imprinting center defects. The MKRN3 gene, located on 15q11.2, is a master regulator of pubertal initiation and is a candidate gene for abnormal pubertal development in PWS.Objective and hy...

Introduction: Action4Diabetes (A4D) is a non-profit UK organisation formed in 2016 that is making sustainable and scalable progress to provide quality Type 1 diabetes (T1D) healthcare in Southeast Asia (SEA). A4D provides comprehensive partnership programmes through a Memorandum of Understanding (MOU) signed with the governments in SEA that guarantees ongoing supplies of free insulin, blood glucose testing, HbA1c tests and hospital emergency funds in low-middl...

Background: Steroidogenic Factor 1 (SF-1), encoded by NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene, is a transcriptional factor that is primordial for adrenal and gonadal organogenesis. Pathogenic variants of NR5A1 are responsible for a wide spectrum of phenotypes with autosomal dominant inheritance, from adrenal insufficiency to gonadal dysgenesis and oligospermia-azoospermia in 46,XY patients.Obj...

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...