ESPE Abstracts

Objective: Low birth weight and prematurity are linked to various behavioural outcomes. In addition, preterm (PT) infants show altered maturation of pituitary–gonadal axis, as demonstrated by its pronounced transient activation during the first postnatal months. Given that gonadal steroid hormones shape the basic processes of neural and behavioural sexual differentiation these elevated sex steroids in premature infants might affect the developing brain and alter subsequen...

Objective: Fetuin-A has many different functions due to its ability to bind to different toll-like receptors in different tissues. Working in different groups will contribute to our understanding of the pathophysiology of Fetuin-A. In this study, we aimed to evaluate Fetuin-A levels in obese adolescents and the relationship between Fetuin-A and anthropometric data, insulin levels and high sensitivity CRP(HSCRP). Material and Meth...

Introduction: Complex and ordered intracellular signal pathways play a significant role in sex determination in mammals, mediating the balance of gonadal development. A major pathway involved in the regulation of the male development is mitogen-activated protein kinase (MAPK) signaling pathway. To date, mutations of MAP3K1 gene have been found to account for approximately 15%-20% of 46, XY gonadal dysgenesis (46, XY GD)....

Introduction: High doses of biotin are reported to cause incorrect results in various immunoassays in some patients. However, there is no systematic study regarding biotin interference in childhood.Aim: To assess thyroid function with different methods in subjects with biotinidase deficiency, to determine the factors causing interference, and to investigate the efficiency of the methods for overcoming interference.Method: The study...

Background: Butyrate is a short-chain fatty acid closely related to the ketone body β-hydroxybutyrate (BHB) considered as the major source of energy during prolonged exercise. During fasting, when the liver switches to fatty acid oxidation, a rise in serum GH occurs concomitantly with the accumulation of BHB and short chain fatty acids (SCFA) acetate, propionate and butyrate. Interactions between GH, ketone body and SCFA during the metabolic adaptation to fasting are poor...

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

Objective: Fear of hypoglycemia interferes frequently with metabolic control of type 1 diabetes especially in patients under 5 years of age who are at high risk of hypoglycemia and low metabolic control. Medtronic Minimed 640 G insulin pump with Smart Guard technology (suspension of insulin perfusion in predictive hypoglycemia situations) appears to be an adequate system for these patients by reducing the risk of hypoglycemia.Research design and methods:...

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8-11 (catalytic site).Case presentation: Girl, born at 16d after term, before the introduction of the neonatal screening, with asphyxia, BL 55 cm, BW 4 kg. Because of insufficient weight gain, feeding difficulties, prolonged jaundice she was referred to a pediatric endoc...

Background: Congenital sodium diarrhea (CSD) is a monogenic disorder caused by specific genetic defects that increase sodium content in the stool, resulting in intractable diarrhea. There are two categories of CSD depending on whether it involves other congenital malformations: non-syndromic congenital sodium loss diarrhea (non-sCSD) and syndromic congenital sodium loss diarrhea (sCSD). For non- sCSD, the identified causative genes include SLC9A3 and GUCY2C, w...