ESPE Abstracts

Background: The COVID-19 crisis required paediatric endocrinologists to rapidly adopt telehealth into their clinical practice. Accurate auxology is a cornerstone of paediatric endocrinology care and is needed to monitor growth and guide medication changes. Remote consultations depend upon parent-reported measurements. However, home height measurements are often inaccurate.Aim: We designed a quality improvement study with...

Background: In Romania (latitude 48°15’N to 43°40’N), vitamin D supplementation is a common practice mostly in 0–2 year old infants. No published information is available regarding vitamin D status in Romanian children.Objective and hypotheses: We aimed to evaluate the seasonal and age variation of vitamin D status in a large Romanian pediatric patient population.Method: 1 395 individuals, 0–18years, f...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous group of disorders, characterized by hypoglycemia due to inappropriate insulin secretion. Despite huge progress in understanding the pathophysiology of CHI, its etiology remains unknown in about 30% of cases.Aim: To perform whole-exome sequencing in patients with CHI.Results: A total of 314 patients with congenital hyp...

Background: The PAX8 gene (Paired box gene 8) is located on the long arm of chromosome 2 (2q12–q14), contains 12 exons and encodes a similarly named PAX8 protein. This protein is a transcription factor which in the thyroid gland is essential for the follicular cells formation and takes part in the expression of the thyroid-specific genes (TG, TPO, and SLC5A5). Variants in the gene have been previously associated with autosomal dominant thyroid dysgenesis...

Background: Despite current treatment, girls and women with severe forms of 21OHD are exposed lifelong to a chronic excess of androgens and the secondary effects of suppressive corticoids, which make gene therapy (GT) an option to be explored.Objective: To evaluate the effect of human CYP21 gene transfer mediated by adeno-associated virus (AAV) in a Cyp21−/− mouse model.Methods: 17 adult <em...

Background: The adrenal cortex undergoes constant cellular renewal and any effect from recombinant adeno-associated vectors (rAAV) targeting differentiated cells will be transient as extra-chromosomal DNA will be lost by dividing cells. A novel option is to use rAAV to express ectopic adrenocortical enzymes in a stable organ outside the adrenal gland. Our aim was to correct the biochemical phenotype in a mouse model for congenital adrenal hyperplasia (CAH) wit...

The use of recombinant adeno-associated viruses (rAAV) as safe vectors have allowed hundreds of gene therapy attempts to treat monogenic diseases not including bone genetic diseases (Gao G, Nat Rev Drug Dis 2019). To our knowledge, there has been few attempts to apply gene therapy to monogenic bone diseases, largely because most skeletal malformations are being developed during fetal life. Patients affected with acrodysostosis are known to aggravate their skeletal malformation...

Objective: To investigate the clinical and molecular characteristics of a girl with aldosterone synthase deficiency type II (ASDII). We also identified the consequences of a novel splice site mutation in the CYP11B2 gene.Materials and Methods: A4-month-old girl presented with vomiting, diarrhea, and failure to thrive. Her 17α-OHP, cortisol, renin, and aldosterone were all in the normal range, and the ACTH stimulatio...

Objective: X-linked agammaglobulinemia (XLA) is a kind of primary immunodeficiency disease caused by mutations in the gene encoding Bruton agammaglobulinemia tyrosine kinase (BTK). This study, we identified a novel in frame deletion mutation in exon11, c.902 _ c.904 delAAG(p.e301 _ g302 delinsG) in BTK gene and evaluated the function of BTK.Methods: A five-year-old boy presented with recurrent respiratory tract infections. His height wa...

Background: X-linked adrenoleukodystrophy (X-ALD) presents with two phenotypes: i) an adult form (adrenomyeloneuropathy, AMN), that involves axonal tracts without demyelination within the spinal cord and affects adult males and more than 80% of X-ALD heterozygote women in adulthood resulting in severe paraplegia. This far the most frequent form of X-ALD. Addison’s disease is very rare in X-ALD women but frequent in adult AMN males, very often with onset years or decades b...