ESPE Abstracts

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...

Background: Obesity and metabolic syndrome related co-morbidities are increasingly recognized in children. Reproduction is an important target of obesity complications, including adverse effects on spermatogenesis and steroidogenesis in males. Adipocytokines are key players in various complications of obesity.Objective and hypotheses: The aim was to study the potential effects of adipocytokines on Sertoli cell function and possibly link the findings to t...

Background: Obesity in females is often associated with metabolic complications and hyperandrogenism. However, the source of androgens is not entirely clear.Objectives and hypotheses: Our objective was to find out if adipose tissue (AT) is a site of steroid production during childhood and adolescence, and if this source could add to hyperandrogenism in obese females.Methods: Parametrial and inguinal adipose tissue was collected and...

Background: Diabetes mellitus (DM) in childhood was mostly type 1 DM (T1DM), but sometimes it is not easy to classify, especially in the case having both type 2 clinical phenotype and autoantibody positivity. It is named as latent autoimmune diabetes in youth or type 1.5 DM (T1.5DM).Objective and hypotheses: This study was designed to evaluate the clinical characteristics of T1.5DM who had autoantibody positivity with clinical phenotype of T2DM.<p cl...

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...

Introduction: Several studies showing a high prevalence of vitamin D deficiency in pregnant women have been published in recent years. Vitamin D deficiency during pregnancy has been related to adverse events both in mother and child. Plasma 25-OH vitamin D (25(OH)D) levels in the newborn are dependent on maternal deposits and show a close correlation with maternal levels; thus, neonates of vitamin D-deficient mothers present a greater risk of hypocalcaemia, rickets and a highe...

Background: Vitamin D3 (25OHD) insufficiency is becoming a public health issue. Adequate 25OHD status during pregnancy may influence the health status of the offspring.Objective and hypotheses: To evaluate the levels of 25OHD during pregnancy (at 12 weeks) and at 4 years old, assessing seasonality, time of sun exposure, and intake.Method: Data were obtained from 485 pregnant mothers recruited in Asturias between 2004 and 2007 and t...

Background: Cushing syndrome is very rare in childhood and adolescence and often occurs with iatrogenic causes. The major cause of endogenous Cushing syndrome is Cushing’s disease, which results due to excessive ACTH secretion from pituitary cells (corticotroph adenoma).Objective and hypothesis: Cushing syndrome cases, which presented with diabetic ketoacidosis (DKA) in adulthood have been rarely reported. However, to our knowledge, there is no repo...