ESPE Abstracts

Background/ Aims: Hyperuricemia (HU) is a frequent finding in childhood obesity, ranging between 12 and 40%, and associates to a variable extent with different components of the metabolic syndrome (MS). In this study, the effect of gender, (a Belgian native vs a non-Belgian native) descent and degree of general and central adiposity on serum uric acid (SUA) and the prevalence of HU was investigated in a multi-ethnic population of overweight/obese children and ...

Background: Epigenetic alterations due to maternal obesity may contribute to an increased metabolic risk in the offspring. IRS1 has a critical role in insulin signalling and its methylation has been previously associated with body fat distribution and glucose metabolism in human adipose tissue. The relationship between IRS1 methylation in birth tissues and obesity parameters in the offspring is unknown.Objective: To iden...

Congenital Hyperinsulinism (HI) causes severe hypoglycemia. In most countries, the estimated incidence of HI is approximately 1/25,000 to 1/50,000 births, classifying it as a rare disease. According to Pediatric Endocrine Society (PES) Guidelines, neonates should be screened for hypoglycemia if they have any of the following: symptoms of hypoglycemia, large for gestational age, perinatal stress, premature or postmature delivery, infant of diabetic mother, family history of a g...

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

Introduction: Turner syndrome (TS) is a rare X-chromosomal disease, which affects one in 2500-3000 female newborns. TS is associated with a distinct cardiovascular morbidity and mortality. Arterial hypertension is present in up to 50% of young TS women and closely related to the onset of aortic dilatation and dissection. The effective management of arterial hypertension can be considered as crucial to improve overall cardiovascular outcome of TS women. In the ...

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.</p...

Introduction: A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome. Balanced segmental anomalies such as inversion or translocation can lead to derivative chromosomes with partial duplication and deletion during meiosis. Here we present two patients with hypergonadotropic hypogonadism and various acc...

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

Objective: Despite published guidelines, there is no single approach to management in congenital adrenal hyperplasia (CAH). The objective of the study was to explore the variations in treatment for CAH in Spain.Material and methods: A retrospective study in a single center was done analyzing the data provided by patients and relatives through the Spanish Association of CAH from a online survey of 25 questions. It was dif...

Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...