ESPE Abstracts

The current lifestyle, with a diet increasingly removed from the Mediterranean diet, together with the habitual sedentary lifestyle, is associated with many of the so-called non-communicable diseases, such as the metabolic syndrome. Every day these pathologies are more frequent in pediatrics, so this study has tried to establish the prevalence of metabolic syndrome and its components in overweight and obese children and assess its impact. METHODS A descriptive study has been c...

Introduction: The influence of sex chromosomes and sex hormones on early human brain development is still poorly understood. Expression of Y chromosome genes may influence aspects of brain maturation in the 46,XY fetus, but the contribution of different Y genes is unknown. Furthermore, a marked increase in testicular testosterone biosynthesis/release from the testis occurs at around 8 weeks post conception (wpc) in the 46,XY fetus, but it is unclear whether te...

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

Thyroid hormone is crucial for metabolism and development. Cellular thyroid hormone homeostasis requires adequate function of (i) thyroid hormone transporter proteins, (ii) deiodinating enzymes and (iii) nuclear receptors. Thyroid hormone transporters are crucial for cellular uptake of T3 and T4. Over the last years, a number of thyroid hormone transporters have been identified and their physiological relevance has been established. The most well-studied example is MCT8 defici...

Context: Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. The estimated prevalence is less than 1/1,000,000 live births. Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce.Objective: We aimed...

Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height as well as psychological consequences. So far only a limited number of genetic determinants have been associated with the pathogenesis in children with CPP. In this original research, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were i...

Introduction: About 15% of children born small for gestational age (SGA) do not reach final height within normal range. Recombinant human growth Hormone (rhGH) has shown to be effective in catching up growth velocity and height in children born SGA.The objective of our study is to identify the predictive factors of final height in children born SGA treated with rhGH.Materials and Methods: Monocentric, retrospective s...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...