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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

hrp0086p1-p1 | Adrenal P1 | ESPE2016

Leptin is Associated with Serum Aldosterone in Paediatric Subjects, Independently of Body Mass Index, Blood Pressure and Plasma Renin Activity

Martinez-Aguayo Alejandro , Campino Carmen , Baudrand Rene , Carvajal Cristian , Grob Francisca , Garcia Hernan , Bancalari Rodrigo , Loureiro Carolina , Mendoza Carolina , Arancibia Monica , Vecchiola Andrea , Tapia Alejandra , Valdivia Carolina , Fuentes Cristobal , Solari Sandra , Allende Fidel , Fardella Carlos

Background: Leptin is considered to play an important role in the development of hypertension in obesity. The excessive synthesis of aldosterone contributes to the development and progression of metabolic and cardiovascular dysfunctions. Leptin is a newly described regulator of aldosterone synthesis that acts directly on adrenal glomerulosa cells to increase CYP11B2 expression and enhance aldosterone production in human adrenal cells lines and in animal models.<p class="ab...

hrp0086p1-p2 | Adrenal P1 | ESPE2016

Mast Cells and Steroidogenesis in the Human Fetal Adrenal

Naccache Alexandre , Louiset Estelle , Duparc Celine , Laquerriere Annie , Patrier Sophie , Renouf Sylvie , Gomez-Sanchez Celso E. , Mukai Kuniaki , Lefebvre Herve , Castanet Mireille

Background: We recently demonstrated the presence of mast cells in human fetal adrenal gland from 18–20 weeks of gestation (WG) within the subcapsular layer. In the adult adrenal, mast cells have been implicated in mineralocorticoid synthesis and secretion especially in aldosterone-producing adenomas. Because similarities exist between tumors and normal fetal development and as cell-to-cell interactions involving immune cells are implicated in organogenesis, we hypothesiz...

hrp0086p1-p3 | Adrenal P1 | ESPE2016

Gender-Specific Differences in Hypothalamus–Pituitary–Adrenal Axis Activity in Children: A Meta-Analysis

van der Voorn Bibian , Hollanders Jonneke , Ket Johannes , Rotteveel Joost , Finken Martijn

Background: Differences in hypothalamus–pituitary–adrenal (HPA-)axis functioning have been proposed to underlie gender-specific cardiovascular and neurocognitive disease susceptibility.Objective and hypotheses: We conducted a systematic review and meta-analysis to test the hypothesis that gender-specific differences in HPA-axis activity are already present in childhood.Method: We searched two electronic databases (PubMed ...

hrp0086p1-p4 | Adrenal P1 | ESPE2016

Prepubertal Children Born Large for Gestational Age have Lower Serum DHEAS Concentrations than those with Lower Birth Weight

Nordman Henrikki , Voutilainen Raimo , Jaaskelainen Jarmo

Background: In some studies, prepubertal children born small for gestational age (SGA) have had a higher prevalence of premature pubarche and higher serum DHEAS concentrations than children born appropriate for gestational age (AGA). The overall metabolic risk associated with birth weight is U-shaped, but it is not known if children born large for gestational age (LGA) have elevated serum DHEAS levels.Objective and hypotheses: The aim of this study was t...

hrp0086p1-p5 | Adrenal P1 | ESPE2016

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance, who did not have Mutations in the NR3C1 Gene

Sertedaki Amalia , Polyzos Alexandros , Nicolaides Nicolas , Thanos Dimitris , Charmandari Evangelia

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare, familial or sporadic condition, characterized by generalized, partial tissue insensitivity to glucocorticoids. The molecular basis of this condition has been ascribed to mutations in the NR3C1 (human glucocorticoid receptor, hGR) gene, which impair the molecular mechanisms of hGR action and decrease tissue sensitivity to glucocorticoids. However, a considerable number of patients with PGGR do ...

hrp0086p1-p6 | Adrenal P1 | ESPE2016

Novel CYP11A1 Mutations in 15 Patients (13 Families) with Variable Clinical Presentations

Goursaud Claire , Roucher-Boulez Florence , Mallet-Motak Delphine , Brauner Raja , Gay Claire Lise , Garcia Ana Mercedes , Lienhardt-Roussie Anne , Jennane Farida , Azar Maryam Razzaghy , Morel Yves

Background: The side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associate with primary adrenal insufficiency (PAI) and, in 46,XY patients, Disorders of Sex Development (DSD). A total of 35 patients (27 families) are reported including 15 intermediate forms with delayed onset of PAI, variable degrees of DSD or normal male phenotype.<p class="abstext"...

hrp0086p1-p7 | Adrenal P1 | ESPE2016

Transient Generalized Glucocorticoid Hypersensitivity Syndrome

Kyritsi Eleni Magdalini , Nicolaides Nicolas C , Lamprokostopoulou Agaristi , Xaidara Athina , Georgiadou Elizabeth , Dimitropoulou Vassiliki , Stefa Alketa , Sertedaki Amalia , Chrousos George P , Charmandari Evangelia

Background: Transient Generalized Glucocorticoid Hypersensitivity (TGGH) 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 underlying molecular mechanisms have not been fully elucidated.Objective and hypotheses: To present the clinical manifestations, endocrinologic evaluation and molecular studies in ...

hrp0086p1-p8 | Adrenal P1 | ESPE2016

The Effect of Obesity on the Stress Response: The Paradigm of Surgical Stress

Fili Foteni , Salakos Christos , Pervanidou Panagiota , Bartzeliotou Anastasia , Papassotiriou Ioannis , Chrousos George , Dacou-Voutetakis Catherine , Voutetakis Antonis

Background: The ability to respond to stress constitutes a defensive protective mechanism; both inadequate and excessive responses may be detrimental.Objective and hypotheses: To investigate the effect of increased body weight on the hormonal response to stress in children. Scheduled surgical procedures include two stressful parts, a psychological one (anticipation of operation) and a biological one (surgical stress per se) and were chosen as a study mod...

hrp0086p1-p9 | Adrenal P1 | ESPE2016

Long-term Anthropometric Outcome of Girls with Non-classical Congenital Adrenal Hyperplasia Diagnosed in Childhood

Bello Rachel , Lebenthal Yael , Salitin Shlomit , Lazar Liora , Tenenbaum Ariel , Phillip Moshe , de Vries Liat

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...

hrp0086p1-p10 | Adrenal P1 | ESPE2016

Current Dilution Methods Cause Large Variations and Inaccuracies when Making up 1 μg Synacthen Dose

Cross Alexandra S , Sachdev Pooja , Wright Neil P , Jabbar Imran , Elder Charlotte J

Background: The low-dose short Synacthen test is a popular diagnostic test of adrenal insufficiency in children. It is employed by 82% of UK paediatric endocrinologists. Although various dosing strategies exist, 1 μg is most commonly employed, however none of the low-dose forms are commercially available. A BSPED survey revealed 14 different methods for diluting 250 μg/ml ampoules.Objective and hypotheses: Do various dilution strategies result ...

hrp0086p1-p11 | Adrenal P1 | ESPE2016

Evaluation of the Glucocorticoid, Mineralocorticoid, and Adrenal Androgen Secretion Dynamics in A Large Cohort of Patients Aged 6–18 Years with Transfusion-dependent β-Thalassemia Major, with an Emphasis on the Impact of Cardiac Iron Load

Ucar Ahmet , Oner Nergiz , Ozek Gulcihan , Cetincakmak Mehmet Guli , Abuhandan Mahmut , Yildirim Ali , Kaya Cemil , Unverdi Sena , Emeksiz Hamdi Cihan , Yilmaz Yasin , Yetim Aylin

Background: The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown.Objective and hypotheses: To establish the prevalence of ACH, we examined the cortisol response to 1 μg- and 250 μg- ACTH tests, plasma aldosterone (A)/plasma renin a...

hrp0086p1-p12 | Adrenal P1 | ESPE2016

Testicular Adrenal Rest Tumours in 50 Boys, Adolescents and Adult Male with Congenital Adrenal Hyperplasia

Dumic Miroslav , Duspara Vlatko , Grubic Zorana , Kralik-Oguic Sasa , Skrabic Veselin , Kusec Vesna

Background: Testicular adrenal rest tumours (TART) are common cause of infertility in males with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Aim was to assess TART frequency and their impact on gonadal function in 46 children, adolescents and adult male patients with 21-hydroxylase deficiency (21-OHD) (24 salt wasting (SW), 14 simple vilirilizing, eight nonclassical) and four with 11-hydroxylase deficiency (11-OHD).<p class="abstex...

hrp0086p1-p13 | Adrenal P1 | ESPE2016

Establishment of Clinical and Lab Algorithms for the Identification Carriers of Mutations in CYP21A2 – A Study of 768 Children and Adolescents

Meinel Jakob , Finckh Ulrich , Schuster Andreas , Haverkamp Thomas , Richter-Unruh Annette

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...

hrp0086p1-p14 | Adrenal P1 | ESPE2016

A Unique Case of Dual Opposing Pathologies

Viseras Irene Fernandez , Giri Dinesh , Bockenhauer Detlef , Deshpande Charu , Achermann John , Taylor Norman , Rumsby Gill , Senniappan Senthil , Ajzensztejn Michal

Background: We present a patient with co-existence of two rare conditions 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter’s Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism).Case Report: A female infant (46XX) born at 34/40 weeks weighing 2.67 kg to non-consanguineous parents presented on day four of life with significant weight loss. Subsequent inves...

hrp0086p1-p15 | Adrenal P1 | ESPE2016

Individualized Optimization with 17OHP-Saliva Profiles Leads to Changes in Hydrocortisone Dosing Pattern in Children with Congenital Adrenal Hyperplasia

Neumann Uta , Lankes Erwin , Bathelt-Tok Franziska , Krude Heiko , Blankenstein Oliver

Background: Treatment of CAH in children is compromised by the pharmacokinetic of available hydrocortisone (HC) preparations resulting in un-physiological early morning rise of ACTH followed by elevated androgens. HC substitution usually follows a fixed dosing scheme (50%–25%–25%) monitored by blood sampling.Objective and hypotheses: We describe the individualized optimization of HC treatment by 17-OHP saliva profiles and the effects of the res...

hrp0086p1-p16 | Adrenal P1 | ESPE2016

Cortisol Response to ACTH Stimulation Test in Non-Classical Congenital Adrenal Hyperplasia

Karachaliou Feneli , Kafetzi Maria , Vlachopapadopoulou Elpis , Leka-Emiris Sophia , Drakopoulou Maria , Kapella Antonia , Fotinou Aspasia , Michalakos Stefanos

Background: The adequacy of cortisol response in NCCAH has not been fully elucidated.Objective and hypotheses: To evaluate cortisol response to ACTH stimulation test in children and adolescents with NCCAH and possible heterozygosity for CYP21 gene molecular defects.Method: Data of ACTH stimulation test from 146 children and adolescents with clinical hyperandogenism were evaluated retrospectively. Cortisol responses to ACTH stimulat...

hrp0086p1-p17 | Adrenal P1 | ESPE2016

Altered Stress System Activity in Children with ADHD

Angeli Eleni , Johnson Elizabeth , Korpa Terpsichori , Apostolakou Filia , Papassotiriou Ioannis , Chrousos George , Pervanidou Panagiota

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most prevalent neurodevelopmental disorder worldwide. Evidence suggests dysfunction of the fronto-subcortical pathways and the dopaminergic and noradrenergic systems, as well as dysregulation of the stress system, i.e., the hypothalamic–pituitary–adrenal (HPA) axis and the sympathetic nervous system (SNS).Objective and hypotheses: The aim of the study was to examine i) the diurn...

hrp0086p1-p18 | Adrenal P1 | ESPE2016

Adult Individuals with Classic Congenital Adrenal Hyperplasia Exhibit Deficits in Executive Functions

Karlsson Leif , Zimmermann Marius , Wallensteen Lena , Barbaro Michela , Nordenstrom Anna , Hirvikoski Tatja , Lajic Svetlana

Background: Individuals with classic congenital adrenal hyperplasia (CAH) are treated postnatally with glucocorticoids. Earlier research with animals and other disorders with excess GC exposure implicate that GCs can influence memory. Deficits in working memory can be seen already during childhood in children with classic CAH.Objective: We tested the hypothesis that adult individuals with classic CAH show impaired cognitive functions.<p class="abstex...

hrp0086p1-p19 | Adrenal P1 | ESPE2016

Heterozygous Mutations in CYP11A1 Gene can Cause Life-Threatening Salt Wasting and Failure to Thrive

Papadimitriou Dimitrios T. , Bothou Christina , Willems Patrick J. , Zarganis Diagoras , Papaevangelou Vassiliki , Papadimitriou Anastasios

Background: Cytochrome P450 side-chain cleavage enzyme (CYP11A1 gene) catalyses the conversion of cholesterol to pregnenolone in steroidogenic cells, the first step in the biosynthesis of all steroid hormones. SCC deficiency has been established as an autosomal recessive disorder caused by inactivating homozygous or compound heterozygous mutations in the CYP11A1 gene, with a wide phenotypic spectrum ranging from prematurity, complete underandrogenization and severe early-onset...

hrp0086p1-p20 | Adrenal P1 | ESPE2016

HIV Drugs as a Possible Cause for Transient 21-Hydroxylase Deficiency in a Preterm Infant

Haamberg Tanja , Bullo Marina , McDougall Jane , Fluck Christa E.

Background: Transient neonatal adrenal dysfunction is reported in association with antiretroviral therapy with Lopinavir and Ritonavir. Other drugs have not been tested.Objective and hypotheses: We report on a preterm girl, born 26 weeks gestation, with elevated 17-hydroxyprogesterone (17OHP) at newborn screening. During pregnancy the mother was treated for HIV with Atripla (Efavirenz, Tenofovir, Emtricitabin) and viral load was suppressed. Furthermore t...

hrp0086p1-p21 | Adrenal P1 | ESPE2016

Increased Salivary and Hair Cortisol and Decreased Salivary Alpha-Amylase Concentrations in Obese Prepubertal Girls

Papafotiou Chrysanthe , Christaki Eirini , van den Akker Erica , Wester Vincent , Apostolakou Filia , Papassotiriou Ioannis , Chrousos George , Pervanidou Panagiota

Background: Obesity has been associated with perturbations of the hypothalamic–pituitary–adrenal (HPA) axis and the sympathetic nervous system (SNS). Scalp hair cortisol has been recognized as a reliable index of long-term cortisol concentrations.Objective and hypotheses: Aim of this study was to compare indices of HPA axis and SNS activities, such as, respectively, the salivary cortisol and alpha-amylase diurnal patterns, and their relations i...

hrp0086p1-p22 | Adrenal P1 | ESPE2016

An Assessment of the Hypothalamic–Pituitary–Adrenal Axis in Children with Prader–Willi Syndrome

Kyriakou Andreas , Lewis Sarah , Coveney John , Roche Edna F.

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

hrp0086p1-p23 | Adrenal P1 | ESPE2016

The Urinary Steroidome of Children with Classic 21-Hydroxylase Deficiency Treated with Hydrocortisone

Kamrath Clemens , Wettstaed Lisa , Boettcher Claudia , Hartmann Michaela , Wudy Stefan

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

hrp0086p1-p24 | Adrenal P1 | ESPE2016

Adrenal Insufficiency in ROHHADNET Syndrome (Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor)

Tallone Ramona , Napoli Flavia , Di Iorgi Natascia , Allegri Anna , Calcagno Annalisa , Maghnie Mohamad

Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and Neural tumor (ROHHADNET) is a rare condition. The first symptom is the appearance of rapid onset obesity (2–4 years) followed by central hypoventilation, hypothalamic dysfunction, dysautonomic symptoms and neural tumors.Objective and hypotheses: Aim of this study was to evaluate adrenal function in ROHHADNET patients from a single-center.<...

hrp0086p1-p25 | Adrenal P1 | ESPE2016

The Psychosocial Impact of Adrenal Insufficiency and Congenital Adrenal Hyperplasia on Children and their Parents

Simpson Amy , Hunter Amy

Background: Those affected by adrenal insufficiency (AI) (including congenital adrenal hyperplasia (CAH)) are at risk of serious illness and growth problems, and as a result they require life-long daily hormone replacement therapy. Little is known about the psychosocial impact that living with and treating AI on a daily basis can have on both children and their parents.Objective and hypotheses: The aim of the study was to explore the psychosocial impact ...

hrp0086p1-p26 | Adrenal P1 | ESPE2016

Sex-Specific Differences in Hypothalamus-Pituitary-Adrenal Axis Activity in Newborns with Very Low Birth Weight

van der Voorn Bibian , de Waard Marita , Rotteveel Joost , Hartmann Michaela , van Goudoever Johannes , Lafeber Harrie , Wudy Stefan , Finken Martijn

Background: Male preterm infants are at increased risk of neonatal mortality when compared to their female counterparts. The mechanisms explaining this male disadvantage are not fully elucidated yet.Objective and hypotheses: To compare glucocorticoid metabolite excretion in urine obtained at day 10 between male and female infants born with a very low birth weight (VLBW; i.e. <1500 g). We hypothesized that male preterm infants have impaired adrenocort...

hrp0086p1-p27 | Adrenal P1 | ESPE2016

Beckwith-Wiedemann Syndrome and Bilateral Phaeochromocytoma: A Diagnostic Challenge

Cottrell Emily , Glaser Adam , Blackburn Mike , Alvi Sabah , Mushtaq Talat , Squire Roland , Steele Caroline

Background: Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder secondary to various mutations in growth-regulatory genes on chromosome 11p15.5. A well-established association exists between BWS and both benign and malignant tumours, most commonly Wilms’ tumour and hepatoblastoma. We present a less frequently described diagnosis of bilateral phaeochromocytoma in association with BWS.Case report: We report the case of a 14-year-old girl w...

hrp0086p1-p28 | Adrenal P1 | ESPE2016

Combined Glucocorticoid and Mineralocorticoid Deficiency Related to a New NNT Mutation: A Case Report

Doye Emilie , Roucher-Boulez Florence , Gay Claire-Lise , Castets Sarah , Nicolino Marc , Morel Yves

Background: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by specific failure of adrenocortical glucocorticoid production in response to adrenocorticotropic hormone (ACTH). Mutations of the nicotinamide nucleotide transhydrogenase (NNT) gene have recently been implicated in FGD.Objective and hypotheses: To describe a new case of FGD with combined mineralocorticoid insufficiency and extra adrenal manifestations....

hrp0086p1-p29 | Adrenal P1 | ESPE2016

Testicular Adrenal Rest Tumours in Patient with X-Linked Adrenoleukodystrophy

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Peterkova Valentina

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

hrp0086p1-p30 | Adrenal P1 | ESPE2016

Reference Intervals for the Steroid Hormones of 6 to 14 year Old Normal Male Children with LC-MS Method

Cao Bingyan , Gong Chunxiu , Guo Yongli , Wu Di

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

hrp0086p1-p31 | Adrenal P1 | ESPE2016

Growth of Children with Congenital Adrenal Hyperplasia (CAH) During the First 2 years of Life – Data from the Duth Longitudinal Registry

Linde Annelieke van der , Roeleveld Nel , vd Akker Erika , van Albada Mirjam , Hannema Sabine , Hoorweg-Nijman Gea , vd Kamp Hetty , Finken Martijn , Odink Roelof , van Trotsenburg Paul , Verkerk Paul , Claahsen Hedi

Background: A national database has been developed to register longitudinal data from all CAH children detected through neonatal screening from 2002 onwards. So far, data from 105 children have been registered (65% of Dutch CAH patients) to evaluate treatment and long-term effects in CAH.Aims: To evaluate height and weight in relation to medication used in the first 2 years of life.Methods: Biometric data and medication dosage were...

hrp0086p1-p32 | Adrenal P1 | ESPE2016

Molecular Confirmatory Test Improves the Accuracy of Congenital Adrenal Hyperplasia Diagnosis in Newborn Screening Program

Miranda Mirela , Santos Eliane dos , Carvalho Daniel de , Rodrigues Andressa , Nader Ivana , Junior Joao Amelio , Mendonca Berenice , Bachega Tania

Background: Newborn screening for CAH is effective in identifying the severe cases; however, the high rate of false-positive (FPR) results remains an important issue. Therefore, positive neonatal results must be confirmed by serum 17OHP levels, which present a great overlap among all forms.Objective and hypotheses: To evaluate the utility of molecular analysis to improve CAH diagnosis in NBS program.Method: Between 1999 and 2014, 8...

hrp0086p1-p33 | Adrenal P1 | ESPE2016

Usefulness of Corticotropin Test in Children and Adolescents with Clinical Hyperandrogenism

Karachaliou Feneli , Kafetzi Maria , Vlachopapadopoulou Elpis , Drakopoulou Maria , Kaloumenou Irene , Kapella Antonia , Fotinou Aspasia , Psina Antonia , Michalakos Stefanos

Background: The usefulness of corticotrophin (ACTH) test in diagnosis of 21-hydroxylase deficiency and/or other enzymic defects in children and adolescents with serum levels of 17-OHP (before 2000 h) >2 ng/ml is known.Objective and hypotheses: To evaluate the usefulness of ACTH test in diagnosis of non-classical congenital adrenal hyperplasia (NCCAH) and heterozygosity of CYP21 gene molecular defects in children and adolescents with clinical hyperand...

hrp0086p1-p34 | Adrenal P1 | ESPE2016

Primary Adrenal Insufficiency in Children: Results from a Large Nationwide Cohort

Capalbo Donatella , Rezzuto Martina , Cappa Marco , Ferro Giusy , Balsamo Antonio , Baronio Federico , Russo Gianni , Stancampiano Marianna , Greggio Nella Augusta , Tosetto Ilaria , Valenzise Mariella , Wasniewska Malgorzata Gabriela , Maghnie Mohamad , Calcagno Annalisa , Radetti Giorgio , Longhi Silvia , Moracas Cristina , Betterle Corrado , Salerno Mariacarolina

Background: Primary adrenal insufficiency (PAI) is a rare life-threatening disorder. Data on PAI in children are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).Objective and hypotheses: Evaluate etiology of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21-OHD.Method: Children followed in eight tertiary centers wer...

hrp0086p1-p35 | Adrenal P1 | ESPE2016

Follow-up of Growth and Puberty in Girls and Boys with Premature Adrenarche

Liimatta Jani , Utriainen Pauliina , Voutilainen Raimo , Jaaskelainen Jarmo

Background: Premature adrenarche (PA) has been linked with early pubertal development, but only few longitudinal studies on PA girls and boys born appropriate for gestational age (AGA) have been reported.Objective: Our objective was to study growth and pubertal development in PA children, and to explore which factors in prepuberty predict early menarche in girls.Methods: PA (n=43, 36 girls) and control children (n...

hrp0086p1-p36 | Adrenal P1 | ESPE2016

Early Onset Hypertension with Primary Hyperaldosteronism through Mutation in the Calcium Channel CACNA1H – Case Report

Dumitrescu Cristina , Chirita Corina , Procopiuc Camelia , Gherlan Iuliana , Olaru Maria , Lifton Richard P , Nelson-Williams Carol

Background: The genetic causes of primary hyperaldosteronism are still being discovered.Results: We present the case of a 17-years-old girl who was found by accident with severe hypertension (TA 180/100 mmHg, bilateral). Her personal history was unremarkable. Her father had hypertension and a paternal aunt had died at 55 due to a stroke. Both her sisters and mother had normal blood pressure. The cardiological examinationshowed concentric left ventricle h...

hrp0086p1-p37 | Adrenal P1 | ESPE2016

DNA Methylation Signatures Associated with Prenatal Dexamethasone Treatment

Karlsson Leif , Barbaro Michela , Gomez-Cabrero David , Lajic Svetlana

Background: Prenatal treatment with dexamethasone (DEX) has been used since the mid 80’s to minimize virilisation of girls with congenital adrenal hyperplasia. Long-term data on treatment safety and health outcome are still limited. It has been shown in animal models that prenatal dexamethasone treatment affects DNA methylation signatures as well as metabolism and behavior. We have previously shown that DEX affects working memory in children who were treated with DEX duri...

hrp0086p1-p38 | Adrenal P1 | ESPE2016

Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort

Miranda Mirela , Carvalho Daniel , Gomes Larissa , Madureira Guiomar , Marcondes Jose , Billerbeck Ana Elisa , Rodrigues Andressa , Presti Paula , Kuperman Hilton , Damiani Durval , Medonca Berenice , Bachega Tania

Background: Most congenital adrenal hyperplasia (CAH) patients carry mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations varying according to ethnicity. A good genotype-phenotype correlation is observed, allowing the use of molecular analysis in clinical practice.Objective and hypotheses: To review the molecular diagnosis in a large cohort of CAH patients in order to create a diagnostic panel in our po...

hrp0086p1-p39 | Adrenal P1 | ESPE2016

Chronic Adrenal Insufficiency Due to a Mutation of Nicotinamide Nucleotide Transhydrogenase 1 (NNT1): Case Report

Lefevre Christine , Derquenne Helene , Ister Marielle , Weill Jacques , Gueorguieva Iva , Stuckens Chantal , Cartigny Maryse

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

hrp0086p1-p40 | Adrenal P1 | ESPE2016

Cognitive Functions in Congenital Adrenal Hyperplasia

Amr Nermine , Serour Mohamed , Shaker Nermine

Background: There is controversy regarding cognitive affection in patients with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Assess cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone level.Method: Thirty children with CAH due to 21 hydroxylase deficiency were compared with 20 age and sex matched healthy controls. Hydrocortisone daily dose and cumulative dos...

hrp0086p1-p41 | Adrenal P1 | ESPE2016

RET and TP53 Concomitant Mutations: A Challenging Approach to a Unique Association of High Tumor Predisposing Conditions

Calanchini Matilde , Fabbri Andrea , Grossman Ashley , Jafar-Mohammadi Bahram

Background: A 33-year-old woman with a history of adrenocortical carcinoma (ACC), surgically treated aged 4, presented for prenatal screening at 20 weeks gestation. Ultrasound examination identified that the female foetus had a 3-cm adrenal lesion. She had a positive family history for multiple-endocrine-neoplasia-type 2/MEN2 (paternal grandmother) and her father’s cousin was diagnosed with ACC and Li-Fraumeni syndrome (LFS) at 30 year old. Calcitonin, PTH and cathecholam...

hrp0086p1-p42 | Adrenal P1 | ESPE2016

Acute Lysis of a Giant Pediatric Adrenal Cortical Carcinoma Following One Dose of op’DDD

Motte Emmanuelle , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: op’DDD can be used in adrenal cortical carcinoma (ACC) i) when surgery is impossible ii) or as an adjunct to surgery when local extension or metastases are present.Objectives and hypotheses: To report the unexpected spectacular effects of op’DDD in an unoperable ACC.Patient and results: A 3-year-old black African girl presented in poor shape with a 2-year history of pubic hair, clitoromegaly, abdominal distens...

hrp0086p1-p43 | Adrenal P1 | ESPE2016

Severe Hypertension in a Girl: Cushing Syndrome or Apparent Mineralocorticoid Excess Syndrome? Utility of Molecular Study

Godoy Claudia , Seiltgens Cristian , Fardella Carlos , Lacourt Patricia , Pinochet Constanza , Carvajal Cristian

Background: Apparent mineralocorticoids excess syndrome (AME) is an unusual cause of hypertension, caused by genetic mutation of type 2 11β-hidroxysteroid desydrogenase (11BHSD2) enzime, which metabolizes cortisol(F) to cortisone(E). Patients with AME born from consanguineous parents, are small for gestagional age (SGA) and could have nephrocalcinosis, hypokalemia and high plasma cortisol/cortisone relation (F/E).Objective: To tell the clinical and ...

hrp0086p1-p44 | Adrenal P1 | ESPE2016

An Infant with X-linked Adrenal Hypoplasia Congenita and Xp21 Contiguous Gene Deletion Syndrome

Karaguzel Gulay , Mutlu Mehmet , Cebi Alper , Sahin Sevim , Polat Recep

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

hrp0086p1-p45 | Adrenal P1 | ESPE2016

Polymorphisms Analyze in Gene CYP21A2 Gene Associated with Congenital Adrenal Hyperplasia

Jorgens Prado Mayara , Maria Dornelles da Silva Claudia , Grandi Tarciana , Martins de Castro Simone , Kopacek Cristiane , Lucia Rosa Rossetti Maria

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

hrp0086p1-p46 | Adrenal P1 | ESPE2016

The Effect of Intrauterine Stress on Leukocyte Telomere Length in Newborns

Stefa Alketa , Lamprokostopoulou Agaristi , Kontogeorgou Anna , Briana Despina , Malamitsi-Puchner Ariadne , Tsitsilonis Ourania , Gagos Sarantis , Charmandari Evangelia

Background: Telomeres are specialized nucleoprotein structures located at the ends of chromosomes playing a crucial role in genomic stability. They consist of tandem repeats of the noncoding hexameric TTAGGG sequence. Telomere shortening has been associated with cardiovascular disease, hypertension, type 2 diabetes, atherosclerosis, coronary heart disease and stroke, and has been proposed as a biomarker for ageing and a prognostic factor for age-associated diseases.<p clas...

hrp0086p1-p47 | Adrenal P1 | ESPE2016

Predictive Factors for Premature Pubarche in a Large Cohort of Italian Children

Cavarzere Paolo , Caushi Bojana , Ramaroli Diego , Gaudino Rossella , Antoniazzi Franco

Background: Premature pubarche refers to the appearance of pubic hair without other signs of puberty or virilization before 8 years in girls and 9 years in boys. The etiology of premature pubarche is not known. It has been suggested that an early maturation of the zona reticularis of the adrenal cortex is at the basis of premature pubarche, leading to an increase of adrenal androgens to levels that are normally seen in early puberty. In alternative, in children with normal and...

hrp0086p1-p48 | Adrenal P1 | ESPE2016

Cardiac Function in Pediatric Patients with Congenital Adrenal Hyperplasia

Mooij Christiaan F. , Pourier Milanthy S. , Weijers Gert , de Korte Chris L. , Claahsen - van der Grinten Hedi L. , Kapusta Livia

Background: Congenital adrenal hyperplasia (CAH) is characterized by cortisol deficiency and hyperandrogenism. Both hyperandrogenism and treatment with supraphysiological doses of glucocorticoids may cause unfavorable changes in the cardiovascular risk profile of CAH patients. Data on the cardiac function in CAH patients is scarce.Objective and hypotheses: To evaluate the cardiac function in pediatric CAH patients.Method: The cardi...