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 Category 3

Adrenals & HP Axis

hrp0082p3-d1-621 | Adrenals & HP Axis | ESPE2014

The Effect of Working in a Children’s Hospital on Urinary Catecholamine Excretion Rates in Male and Female Physicians

Boettcher Claudia , Peitzsch Mirko , Eisenhofer Graeme , Wudy Stefan A

Background: Working as a physician is accompanied by emotional and physical stress.Objective and hypotheses: Our study aimed to investigate the effect of working day and night in a children’s hospital on catecholamine excretion as a marker for acute stress and to work out possible gender differences.Methods: 22 paediatricians (ten females, 12 males) aged 27–41 years collected four 12-h urine samples: two during a 24 h-shi...

hrp0082p3-d1-622 | Adrenals & HP Axis | ESPE2014

Body Composition Analysis in Girls With Premature Adrenarche

Nurcan Cebeci Ayse , Tas Aysegul

Background: Idiopathic premature adrenarche (PA) in girls refers to the presence of androgenic signs before the age of 8 years in the absence of thelarche. Increased adrenal androgens lead to changes in body composition and transient growth acceleration without effecting final height. Although the association between PA and some components of the metabolic syndrome is well known, total body fat and body composition analysis are not widely studied.Subject...

hrp0082p3-d1-623 | Adrenals & HP Axis | ESPE2014

Pseudohypoaldosteronism Type 1: Role of Urinary Steroid Profiling in Specific and Early Diagnosis: Lessons in Differential Diagnosis of PHA1 vs PHA2 (Renal Tract Anomaly)

Abbot V , Ghataore L , Pieterse D J , Chapman S , Kapoor R R , Taylor N F , Buchanan C R

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disorder of neonatal salt loss unresponsive to mineralocorticoids, requiring salt supplementation. It results from resistance of kidney and/or other tissues to mineralocorticoids, arising from mutations in genes encoding mineralocorticoid receptor (MR: NR3C2; autosomal dominant), or epithelial sodium channel (ENaC) genes (SCNN1A/B/G; autosomal recessive). Milder clinical phenotype associates with ren...

hrp0082p3-d1-624 | Adrenals & HP Axis | ESPE2014

Genotype–Phenotype Correlations in Bulgarian Patients with c.293-13A/C>G Splice Mutation of 21CYPA2 Picked up by Neonatal Screening (NS)

Stoeva Iva , Dineva Ganka , Kirov Andrey , Kostova Antoaneta , Todorov Tihomir , Aroyo Ani , Todorova Albena , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

hrp0082p3-d1-625 | Adrenals & HP Axis | ESPE2014

A Pediatric Case of Cushing’s Disease Presenting with Diabetic Ketoacidosis

Catli Gonul , Tanrisever Ozgur , Sule Can P , Nuri Dundar Bumin

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...

hrp0082p3-d1-626 | Adrenals & HP Axis | ESPE2014

Cyp21a2 Mutation Spectrum in Bulgarian Cah Patients

Todorova Albena , Kirov Andrey , Stoeva Iva , Todorov Tihomir , Dineva Ganka , Kostova Antoaneta , Aroyo Ani , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) is a group of inborn errors of steroidogenesis. It is mainly caused by steroid 21-hydroxylase coding gene (CYP21A2) mutations. More than 30% of the CYP21A2 mutations are deletions, with ethnic specific differences. The Bulgarian mutational spectrum of CYP21A2 gene is unknown.Objective and hypotheses: To determine CYP21A2 mutation spectrum in Bulgarian CAH patients.<p...

hrp0082p3-d1-627 | Adrenals &amp; HP Axis | ESPE2014

A Rare Cause of Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency: a Case Report

Cinaz Peyami , Cihan Emeksiz Hamdi , Celik Nurullah , Doger Esra , Yuce Ozge , Camurdan Orhun , Bideci Aysun

Background: P450 oxidoreductase (POR) deficiency is the newest form of congenital adrenal hyperplasia first described in 2004. POR is a protein that transfers electrons from NADPH to all 50 microsomal forms of cytochrome P450. Mutations that cause POR deficiency result in partial deficiency of the enzymes 21-hydroxylase and 17α-hydroxylase. Remarkable clinical features of the POR deficiency are genital ambiguity in both sexes, glucocorticoid deficiency and Antley-Bixler s...

hrp0082p3-d1-628 | Adrenals &amp; HP Axis | ESPE2014

Familial Glucocorticoid Deficiency: Masked Diagnosis by Hydrocortisone Life-Saving Treatment

Baronio Federico , Marsigli Angelica , Bettocchi Ilaria , Tassinari Davide , Mazzanti Laura , Metherell Louise , Balsamo Antonio

Background: Familial glucocorticoid deficiency (FGD) is a rare and potentially life-threatening disease, characterized by adrenal insufficiency without mineralocorticoid deficiency. It is diagnosed during the neonatal period but also in childhood. Manifestations are recurrent hypoglycemia, seizures or even coma, chronic fatigue, recurrent infections and skin hyperpigmentation. Mutations on mineralocorticoid receptor 2 (MC2R) gene and on melanocortin-2 receptor accesso...

hrp0082p3-d1-629 | Adrenals &amp; HP Axis | ESPE2014

Clinical and Genetic Diagnosis of Allgrove Syndrome

Todorova Zdravka , Stefanova Elissaveta , Litvinenko Ivan , Kazakova Krasimira , Yaneva Penka , Yordanova Desislava , Dimitrova Mihaela

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...

hrp0082p3-d1-630 | Adrenals &amp; HP Axis | ESPE2014

Clinical Case of Cushing Syndrome in Secreting NET

Musolino Gianluca , Piran Marzia , Chiaravalli Stefano , Nespoli Luigi , Salvatoni Alessandro

Background: Neuroendocrine tumors (NETs) represent a complex entity of neoplasm arising from different cell types of neural crest origin. They can produce and/or secrete various hormones or vasoactive substances. Usually sporadic, they can occur in association with other cancers, as part of a multiple endocrine neoplasia type 1 (MEN1), von Hippel–Lindau disease, von Recklinghausen, tuberous sclerosis.Case report: We report a case of neuroendocrine t...

hrp0082p3-d1-631 | Adrenals &amp; HP Axis | ESPE2014

Homozygous c.923dupT Combined with Heterozygous c.334G>A CYP21A2 Mutation: a Case Report from the Bulgarian CAH Screening Programme

Kostova Antoaneta , Stoeva Iva , Kirov Andrey , Dineva Ganka , Todorov Tihomir , Todorova Albena , Stefanova Elissaveta , Kazakova Krassimira , Aroyo Ani , Mitev Vanio

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...

hrp0082p3-d1-632 | Adrenals &amp; HP Axis | ESPE2014

Secondary Pseudohypoaldosteronism Type 1: the Role of a Urinary Steroid Profile

Grace M L , Murray D M , Joyce C , Taylor N F , Ghataore L , O'Connell S M

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

hrp0082p3-d1-633 | Adrenals &amp; HP Axis | ESPE2014

Steroid 11β Hydroxylase Deficiency in Egyptian Children

Musa Noha , Ghali Isis , Farag Sara , Amin Maha , Hafez Mona

Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited endocrinal disorders. Steroid 11β hydroxylase deficiency (11βOHD) is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100 000–200 000 in overall population.Objective and hypotheses: To detect 11β hydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings su...