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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

hrp0086rfc1.1 | Adrenals | ESPE2016

Tracing the Glucocorticoid Receptor Evolutionary Pedigree: Insights from a Comprehensive Phylogenetic Analysis of the Full NR Super-Family

Vlachakis Dimitrios , Nicolaides Nicolas C. , Papageorgiou Louis , Lamprokostopoulou Agaristi , Charmandari Evangelia

Background: The nuclear receptor (NR) family comprises three main subfamilies: the steroid hormones receptors, the thyroid/retinoid hormone receptors and the orphan receptors. Proteins within the NR family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth and development. Despite their biological significance, their evolution and diversification remains to be elucidated....

hrp0086rfc1.2 | Adrenals | ESPE2016

Glucocorticoid Deficiency Due to Disruption of Mitochondrial Steroidogenesis Leads to Dysregulation of Antioxidant Pathways and Nucleotide Biosynthesis

Weger Meltem , Gorling Benjamin , Poschet Gernot , Griffin Aliesha , Hell Rudiger , Luy Burkhard , Muller Ferenc , Krone Nils

Glucocorticoids are important regulators of systemic homeostasis. However, the role of these steroid hormones has been mainly studied by using synthetic glucocorticoids or in states of glucocorticoid excess. Thus, the pathophysiologic consequences of cortisol deficiency on metabolic and biosynthesis pathways remain largely elusive. Zebrafish is a well-established vertebrate model for studying whole organism biology. Similar to humans, zebrafish are day active and the key gluco...

hrp0086rfc1.3 | Adrenals | ESPE2016

Impaired Cardiac Function in a Mouse Model of Generalized Glucocorticoid Resistance

Lamprokostopoulou Agaristi , Varela Aimilia , Katsimpoulas Michalis , Dimitriou Constantinos , Athanasiadis Nikos , Soultou Eleana , Stefa Alketa , Mavroides Manolis , Davos Constantinos H. , Chrousos George P. , Kino Tomoshige , Georgopoulos Spiros , Charmandari Evangelia

Background: Glucocorticoids regulate a broad spectrum of physiologic functions essential for life and exert their actions through their ubiquitously expressed glucocorticoid receptor (GR). The GR interacts with several molecules, including the non-coding RNA growth arrest-specific 5 (Gas5), which decreases the transcriptional activity of the GR by preventing its binding to DNA, and reduces tissue sensitivity to glucocorticoids.Objective and Hypotheses: T...

hrp0086rfc1.4 | Adrenals | ESPE2016

Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy

Vu Dung , Nguyen Ngoc Khanh , Nguyen Thu Ha , Bui Phuong Thao , Can Thi Bich Ngoc , Nguyen Phu Dat , Shimozawa Nobuyuki

Background: X-linked adrenoleukodystrophy (X-ALD) is caused by a defect in the gene ABCD1, which maps to Xq28 and codes for a peroxisomal membrane protein that is a member of the ATP-binding cassette transporter superfamily. This disease characterized by progressive neurologic dysfunction, occasionally associated with adrenal insufficiency.Objective and hypotheses: To identify mutations of gene ABCD1 in Vietnamese patients with X-ALD.</...

hrp0086rfc1.5 | Adrenals | ESPE2016

A Novel Animal Model to Study 21-Hydroxylase Deficiency in vivo

Zaucker Andreas , Griffin Aliesha , Storbeck Karl-Heinz , Guran Tulay , Thakur Nazia , Weger Meltem , Taylor Angela , Mueller Ferenc , Krone Nils

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is caused by mutations in the CYP21A2 gene. Steroid 21-hydroxylase deficiency results in impaired synthesis of mineralcorticoids and glucocorticoids (GC), plus androgen excess. Hormonal imbalances in 21OHD are postulated to result in systemic transcriptomic and metabolomic alterations. Such perturbations are likely to be underlying co-morbidities, which are increasingly observed in individua...

hrp0086rfc1.6 | Adrenals | ESPE2016

Pediatric Patients with Congenital Adrenal Hyperplasia have Unfavorable Changes in their Cardiovascular Risk Profile

Mooij Christiaan F. , van Herwaarden Antonius E. , Roeleveld Nel , de Korte Chris L. , Kapusta Livia , Claahsen - van der Grinten Hedi L.

Background: Patients with congenital adrenal hyperplasia (CAH) are at risk of developing an unfavorable cardiovascular risk (CVR) profile. Data on the CVR profile in pediatric CAH patients are scarce.Objective and hypotheses: To evaluate the CVR profile of pediatric CAH patients.Method: A cross-sectional study in CAH patients (8–16 years) was performed (n=27). Blood was taken to evaluate several circulating CVR marker...

hrp0086rfc1.7 | Adrenals | ESPE2016

The Recovery of Adrenal Function in Children with Chronic Asthma Assessed by Low Dose Short Synacthen Test (LDSST)

Gangadharan Arundoss , McCoy Paul , McGuigan Michael , Didi Mohammed , Das Urmi , Dharmaraj Poonam , Senniappan Senthil , Ramakrishnan Renuka , Yung Zoe , Hatchard Lynn , Blundell Pauline , Stirrup Kelly , Blair Joanne

Background: Hypothalamic-Pituitary–Adrenal (HPA) axis suppression is common during inhaled corticosteroid (ICS) treatment of asthma, and deaths due to adrenal crisis are described. Little is known about the optimal treatment or recovery of ICS induced HPA axis suppression.Aims: To describe the treatment and outcomes of children with ICS induced HPA suppression diagnosed on the low dose short Synacthen test (LDSST).Method: The ...

hrp0086rfc1.8 | Adrenals | ESPE2016

Adrenal Dysfunction in HIV-Exposed Uninfected Infants Receiving Ritonavir-Boosted Lopinavir, an HIV Protease Inhibitor, for the Prevention of Breastfeeding HIV Transmission. An ANRS 12174 Substudy

Polak Michel , Wudy Stefan , Meda Nicolas , Hartmann Michaela , Kankasa Chipepo , Tumwine James , Laborde Kathleen , Hofmeyr Justus , Vallo Roselyne , Nagot Nicolas , Tylleskar Thorkild , Van de Perre Philippe , Blanche Stephane

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...