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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p1-1 | Adrenal | ESPE2015

Evaluation of Glucose Metabolism and Cardiovascular Risk Factors and Hyperandrogenemia in Prepubertal Girls with Premature Pubarche

Bezen Digdem , Tutunculer Filiz , Dilek Emine , Seleci Didem Ag , Erbas Hakan

Background: Premature pubarche (PP) is known to be a risk factor the development of metabolic syndrome (MS) and hyperandrogenism.Aims: To evaluate if glucose and insulin metabolism, cardiovascular risk factors and cardiovascular risk factors in family (FCVRF) create a risk for insulin resistance (IR) and if PP is a risk factor alone for MS and hyperandrogenism in normal weighted prepubertal PP girls.Methods: Prepubertal and non-obe...

hrp0084p1-2 | Adrenal | ESPE2015

Ontogeny of the Synchronisation between Adrenal Clock Genes, Adrenal Steroidogenesis-Related Genes and the Circadian Rhythm of the HPA Axis in Rats

Ruiz Silvia , Martins Clarissa , Castro Margaret , Antonini Sonir , Martinez Edson , Moreira Ayrton

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

hrp0084p1-3 | Adrenal | ESPE2015

Are Heterozygous Carriers of CYP21A2 Less Vulnerable to Psychological Stress?

Nordenstrom Anna , Butwicka Agnieszka , Falhammar Henrik , Hirschberg Angelica Linden , Almqvist Catharina , Nordenskjold Agneta , Frisen Louise

Background: Congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency is one of the most common monogenic autosomal recessive disorders with an incidence of one in 15 000, and even more common in some populations. Do carriers have a survival advantage?Objective and hypotheses: The HPA axis has been reported to be more active in CYP21A2 carriers, and possibly enable a more rapid return to homeostasis. A compensatory increase in CRH s...

hrp0084p1-4 | Adrenal | ESPE2015

Effect of CYP17A1 Inhibitors Orteronel and Galeterone on Adrenal Androgen Biosynthesis

Udhane Sameer S , Pandey Amit V

Background: The cytochrome P450 CYP17A1 plays a vital role in regulating adrenal androgen production. The 17,20 lyase activity of CYP17A1 is key for androgen regulation. The orteronel and galeterone are known to inhibit 17,20 lyase activity however the detailed mechanisms of the inhibition of CYP17A1 activities remain unknown. These inhibitors have been developed to treat the castration resistant prostate cancer (CRPC) but little is known about their effects on adrenal androge...

hrp0084p1-5 | Adrenal | ESPE2015

Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

Huebner Angela , Reschke Felix , Kurth Ingo , Kutzner Susann , Utine Eda , Hazan Filiz , Landgraf Dana , Hubner Christian A , Koehler Katrin

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

hrp0084p1-6 | Adrenal | ESPE2015

Genetic Diagnosis of Congenital Primary Adrenal Insufficiency by Massive Parallel Sequencing

Boulez Florence Roucher , Motak Delphine Mallet , Guerrin Elsensohn Mad-Helenie , Bardel Claire , Roy Pascal , Morel Yves

Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...

hrp0084p1-7 | Adrenal | ESPE2015

Carriers of 21-Hydroxylase Deficiency Demonstrate Increased Psychological Vulnerability to Stress

Koltsida Georgia , Farakla Ioanna , Papanikolaou Aikaterini , Kolaitis Gerasimos , Mantzou Emilia , Charmandari Evangelia

Background: Carriers of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) demonstrate increased secretion of cortisol precursors following ACTH stimulation, suggestive of impaired cortisol production, and compensatory increases in hypothalamic CRH secretion. Both cortisol and CRH have behavioural effects, and hypothalamic CRH hypersecretion has been associated with chronic states of anxiety and depression.Objective and hypoth...

hrp0084p1-8 | Adrenal | ESPE2015

Cortisol:Cortisone Ratio and Metalloproteinase 9 Emerging as Risk Factors Associated with Paediatrics Hypertension

Martinez-Aguayo Alejandro , Campino Carmen , Baudrand Rene , Carvajal Cristian , Pinochet Constanza , Garcia Hernan , Bancalari Rodrigo , Tapia Alejandra , Garcia Lorena , Loureiro Carolina , Mendoza Carolina , Vecchiola Andrea , Valdivia Carolina , Fuente Cristobal , Lagos Carlos , Grob Francisca , Solari Sandra , Allende Fidel , Kalergis Alexis , Fardella Carlos

Background: Paediatric hypertension is increasing and has been associated with obesity and insulin resistance. Recently, cortisol:cortisone ratio and the metalloproteinase 9 (MMP9), which is a marker of vascular remodelling, have been syndicated as new risk factors associated with hypertension.Objective and hypotheses: To analyse the association between paediatric hypertension with clinical, biochemical, inflammation, and vascular remodelling biomarkers<...

hrp0084p1-9 | Adrenal | ESPE2015

Founder Effect and the Clinical and Molecular Characteristics in a Cohort of Classical and Non-Classical Congenital Lipoid Adrenal Hyperplasia Due To StAR Mutations

Abu-Libdeh Abdulsalam , Shokrun Ariella Weinberg , Levy-Lahad Ephrat , Admoni Osnat , Tenenbaum-Rakover Yardena , Zangen David

Background: Classical and non-classical congenital lipoid adrenal hyperplasia (CLAH) are extremely rare condition caused by mutations in StAR. The degree of enzyme activity impairment determines the clinical phenotypes.Objective and hypotheses: To identify the genetic cause of primary adrenal insufficiency in a cohort of patients from 13 unrelated families with classical and non-classical CLAH, to correlate genotype to phenotype and to identify ...

hrp0084p1-10 | Adrenal | ESPE2015

Use of a Cord Blood Fluorescein Labeled Dexamethasone Monocyte Binding Assay to Study the Glucocorticoid Receptor in Neonates

Kashyap Arun , Aisenberg Javier , Ghanny Steven

Background: Glucocorticoids play an important role in the developing fetus, the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity in this population would be helpful, especially in the preterm ...

hrp0084p1-11 | Adrenal | ESPE2015

Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with a Reversible Cardiomyopathy Caused by a Novel CYP11B1 Mutation: Report of Three Cases

Alqahtani Mohammad Ahmad Awwad , Shati Ayed A , Zou Minjing , Alsuheel Ali M , Alhayani Abdullah A , Al-Qahtani Saleh M , Gilban Hessa M , Meyer Brain F , Shi Yufei

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...