Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations

Adrenals & HP Axis

hrp0082p1-d2-1 | Adrenals & HP Axis | ESPE2014

Allelic Frequencies of CYP21A2 Variants and Genotype–Phenotype Correlations in a Cohort of 660 CAH Patients from Germany and Austria*

Riedl Stefan , Rohl Friedrich-Wilhelm , Empting Susann , Bonfig Walter , Dorr Helmuth-Gunther , Holl Reinhard , Mohnike Klaus

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...

hrp0082p1-d2-2 | Adrenals & HP Axis | ESPE2014

Functional Characterization of a Novel Heterozygous Point Mutation in the Human Glucocorticoid Receptor Gene Causing Primary Generalized Glucocorticoid Resistance

Nicolaides Nicolas C , Vlachakis Dimitris , Sertedaki Amalia , Kossida Sophia , Chrousos George P , Charmandari Evangelia

Background: Primary generalized glucocorticoid resistance (PGGR) or Chrousos syndrome is a rare familial or sporadic condition caused by mutations in the hGR gene, which reduce tissue sensitivity to glucocorticoids. A new case of PGGR caused by a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 in the ligand-binding domain of the receptor, was recently reported in a patient with an adre...

hrp0082p1-d2-3 | Adrenals & HP Axis | ESPE2014

Transient Generalized Glucocorticoid Hypersensitivity: Clinical Manifestations, Endocrinologic Evaluation, and Transcriptomic Profile: the Potential Role of nf-κb

Nicolaides Nicolas C , Lamprokostopoulou Agaristi , Polyzos Alexandros , Kino Tomoshige , Katsantoni Eleni , Triantafyllou Panagiota , Christophoridis Athanasios , Katzos George , Drakopoulou Maria , Sertedaki Amalia , Chrousos George P , Charmandari Evangelia

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

hrp0082p1-d2-4 | Adrenals & HP Axis | ESPE2014

Mineralo and Glucocorticoid Deficiency in Early Infancy are Caused by a Founder Novel Mutation in the Nicotinamide Nucleotide Transhydrogenase Gene

Abu-Libdeh Abdulsalam , Weinberg-Shukron Ariella , Zeligson Sharon , Zhadeh Fouad , Carmel Liran , Renbaum Paul , Levy-Lahad Ephrat , Zangen David

Background: Nicotinamide nucleotide transhydrogenase (NNT) gene mutations have been recently shown to cause familial glucocorticoid deficiency (FGD), by decreasing reactive oxygen species (ROS) detoxification in adrenocortical cells. Affected infants present within the first few months with isolated glucocorticoid deficiency.Objective and Hypotheses: To study the genetic etiology of four cases presenting uniquely with neonatal addisonian crisis (both min...

hrp0082p1-d2-5 | Adrenals & HP Axis | ESPE2014

Carbohydrate Metabolism in Children and Adolescents with Classical Congenital Adrenal Hyperplasia due to 21-Hydoxylase Deficiency

Dorr Helmuth G , Pichl Carolin , Marx Michaela , Herzog Nadine , Klaffenbach Daniela , Volkl Thomas

Background: Reports on obesity, high blood pressure and reduced insulin sensitivity in children with classical congenital adrenal hyperplasia (CAH) indicate an increased cardiovascular risk.Objective and Hypotheses: To evaluate potential mechanisms, we analysed various parameters of the carbohydrate metabolism in children and adolescents with CAH.Method: Out of 86 patients with classical CAH, n=41 (21 m, 20 f; ages: 6.9&#1...

hrp0082p1-d2-6 | Adrenals & HP Axis | ESPE2014

Descriptive Analyses of Turner Syndrome

Kamrath Clemens , Hartmann Michaela , Boettcher Claudia , Wudy Stefan

Background: One major issue of newborn screening programs for 21-hydroxylase deficiency (21OHD) is the high rate of false-positive results, especially in preterm neonates. Urinary steroid analysis using gas chromatography–mass spectrometry (GC–MS) is used as a confirmatory diagnostic tool.Objective and Hypotheses: The objective of this study was to analyze diagnostic metabolite ratios in neonates and infants with and without 21OHD using GC&#150...

hrp0082p1-d2-7 | Adrenals & HP Axis | ESPE2014

A Novel Founder Mutation of CYP21A2 in Patients with CAH due to 21-Hydroxylase Deficiency

Okten Aysenur , Karaguzel Gulay , Toraman Bayram , Kalay Ersan , Dincer Tugba

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...

hrp0082p1-d2-8 | Adrenals & HP Axis | ESPE2014

Normal Value of Steroids in Amniotic Fluid by LC–MS/MS Method

Plotton Ingrid , Ruet Severine , Rigaud Chantal , Till Marianne , Sanlaville Damien , Morel Yves

Background: Determination of steroids in amniotic fluid (AF; Forest et al., J Clin Endocrinol Metab, 1980) has been essentially used in the three past decades for the prenatal diagnosis of 21-OH deficiency. With the recent advances of ultrasound technology (US) and the widespread use of amniocentesis, prenatal diagnosis of DSD appears more common especially if a mismatch between karyotype and external genitalia detected by US occurs. An accurate and specific ...

hrp0082p1-d2-9 | Adrenals & HP Axis | ESPE2014

Mast Cells in Human Adrenal Gland During Fetal Development

Naccache Alexandre , Duparc Celine , Louiset Estelle , Lefebvre Herve , Castanet Mireille

Background: We previously found that mast cells are present in the human adult adrenal gland with a possible role in the regulation of aldosterone secretion in both physiological conditions and aldosterone-producing adrenocortical adenomas responsible for primary hyperaldosteronism.Objective and Hypotheses: The aim of the present study was to investigate the presence of mast cells in the human fetal adrenal gland, and to provide arguments in favor of the...

hrp0082p1-d2-10 | Adrenals & HP Axis | ESPE2014

An Unusual Presentation of Isolated ACTH-Deficiency Secondary to TBX19 Mutation Revealed by Late Onset Hypoglycemia Seizure

Valentin Cecile , Saveanu Alexandru , Beltrand Jacques , Netchine Irene

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...

hrp0082p1-d2-11 | Adrenals & HP Axis | ESPE2014

Identification of a Novel Large CYP17A1 Deletion by Multiplex Ligation-Dependent Probe Amplification Analysis in Patients with Classic 17-Hydroxylase Deficiency

Guran T , Turkkahraman D , Ivison H , Griffin A , Vijzelaar R , Krone N

Background: Steroid 17-hydroxylase deficiency (17OHD) (OMIM 202110) is a rare form of congenital adrenal hyperplasia caused by loss-of-function mutations in the 17α-hydroxylase (CYP17A1) gene. CYP17A1 is a key enzyme in the biosynthesis of adrenal and gonadal steroid hormones facilitating both 17α-hydroxylase and 17,20-lyase activities. The CYP17A1 gene is located on chromosome 10 and has eight coding exons. Herein, the molecular basis of 17OHD in a...