ESPE Abstracts

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. T2D is associated with metabolic-associated fatty liver disease (MAFLD). High-density lipoproteins (HDLs) are lipoproteins that are believed to have atheroprotective properties that reduce the risk of cardiovascular disease (CVD). Current evidence suggests that the physicochemical and functional features of HDLs may play a key role in the pathogenesis of atherosclerosis.<...

Background: Primary ovarian insufficiency (POI) affects 1% of women and is associated with significant medical consequences. In approximately 10% of cases, POI presents early with absent puberty or primary amenorrhoea. A genetic cause for POI can be found in up to 30% of women. Identified genes often relate to the complex biological processes occurring in fetal life which underpin normal ovary development and function in later adulthood.Objective: We aim...

Introduction: Ovary development was once considered a largely passive process. RNA sequencing (RNAseq) approaches have allowed us to begin to characterise ovary development in previously unparalleled detail, revealing the process to be complex and, still, little understood. A challenge is synthesising and using these data to advance our understanding of clinical disease. Through a clinically-focused lens, we elucidate novel aspects of the transcriptional lands...

Background: Administration of recombinant GH (rhGH) to GH-deficient children has yielded conflicting results concerning its impact on thyroid function. Data about patients developing subclinical hypothyroidism are scanty, but it is thought to be associated with impairment of metabolic profile and lower growth response.Objective: To investigate the frequency of SH in children with pituitary dwarfism treated with rhGH, as well as its influence on rhGH ther...

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

Background: Small for gestational age (SGA) birth size has been associated with various metabolic, hormonal and reproductive problems in later life.Objective and hypotheses: We aimed to compare differences in sex hormones, uterine and ovarian sizes in SGA and appropriate for gestational age (AGA) adolescent girls.Method: 23 SGA and 47 AGA pubertal 11–14 years old girls (median age 13.2±1.94 years, median pubertal stage 4&...

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism &nda...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Introduction: The coronavirus disease 19 (COVID19) pandemic urged to develop new vaccines to reduce the morbidity and mortality associated with this disease. Recognition and report of potential adverse effects of these novel vaccines (especially the urgent and life-threatening ones) is therefore essential.Case Presentation: A 16-year-old boy presented to the Paediatric Emergency Department with polyuria (9 liters per day...