ESPE Abstracts

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...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterized by diazoxide-responsive hyperinsulinemic hypoglycemia in the neonatal or infancy periods. These patients have severe protein (especially leucine) sensitivity. HADH mutations are recessively inherited with less than 50 patients reported so far. The mechanism behind unregulated insulin secretion in SCHAD deficiency is not understood but may involve changes in protein-protein interactions with glutamate deh...

Background: Cushing's syndrome (CS) is very rare in children and the most common cause is the high doses of glucocorticoids (GC) administered. It is well known that application of potent GCs cause iatrogenic CS (ICS) due to suppressing hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). Other side effects of GCs are also seen in these patients.Objective: The aim of this study is to r...

Background: The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). In women with classic CAH, the fertility rate is lower than in the general female population, and an increased rate of miscarriages has been reported. There are no data on the incidence rate of miscarriages in families with an offspring that have classic CAH.Methods: The families came from different parts of Germany and attended the annual meeting of th...

Background: Congenital adrenal hyperplasia (CAH) due to a CYP21A2 defect (autosomal recessive) leads to salt wasting (SW), simple virilizing (SV), or non-classical (NC) phenotypes basically depending on residual 21-hydroxylase (21-OH) function on the least affected allele.Objective and Hypotheses: To test prediction of CAH phenotype based on genotype classification.Method: Patient data from 37 centers were retrieved from a...