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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

hrp0084p2-166 | Adrenals | ESPE2015

Late Diagnosis of Adrenal Insufficiency Caused by Novel Compound Heterozygous Mutations in Proopiomelanocortin

Frolova Elena , Shirokova Irina , Karpova Svetlana , Kolodkina Anna , Makretskaya Nina , Tiulpakov Anatoly

Background: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...

hrp0084p2-167 | Adrenals | ESPE2015

Hyponatraemia Secondary to Exudative Eczema

Viseras Irene Pilar Fernandez , Ajzensztejn Michal

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

hrp0084p2-168 | Adrenals | ESPE2015

The Natural Mutant Receptor hGRαT556I Causes Primary Generalised Glucocorticoid Resistance Through Decreased Affinity for the Ligand and Impaired Interaction with the GRIP1 Coactivator

Nicolaides Nicolas C , Skyrla Eirini , Vlachakis Dimitrios , Psarra Anna-Maria G , Sertedaki Amalia , Kossida Sophia , Charmandari Evangelia

Background: Primary generalised glucocorticoid resistance (PGGR) is a rare condition characterised by tissue insensitivity to glucocorticoids owing to inactivating mutations of the hGR gene. A new case of PGGR was reported in a patient with an adrenal incidentaloma harboring a novel heterozygous point mutation in the hGR gene, which resulted in threonine (T) to isoleucine (I) substitution at amino acid position 556 of the receptor.Objec...

hrp0084p2-169 | Adrenals | ESPE2015

References Values Under Synacthen Test for Six Steroids in Serum by LC-MS/MS

Souillot Marie , Plotton Ingrid , Rigaud Chantal , Tardy Veronique , Ruet Severine , Morel Yves

Background: The response to ACTH test (synacthen®) is a very useful for the screening of steroidogenesis enzymatic deficiency. With the development of steroid quantification by LC-MSMS more specific than most of immunoassays, the determination of reference value is required at basal and under stimulation time.Objective and hypotheses:: The aim of this study is the determination in the same extraction and chromatography after Synacthen references val...

hrp0084p2-170 | Adrenals | ESPE2015

Usefulness of Salivary Cortisol Levels in Secondary Adrenal Insufficiency in Paediatric Population

Corripio Raquel , Perez Jacobo , Borras Ariadna , Capdevila Laura , Sanchez Judith , Rivera Josefa

Background: The main cause of secondary adrenal insufficiency (SAI) in children is prolonged treatment with exogenous corticosteroids. plasma cortisol (PC) levels after administration of ACTH is the most used indicator of adrenal function in clinical practice. However, salivary cortisol (SC) levels is emerging as an alternative technique in the diagnosis of adrenal pathology, especially useful in the paediatric population because it is a simple noninvasive test.<p class="a...

hrp0084p2-171 | Adrenals | ESPE2015

Acute Adrenal Failure in a Term Newborn with Congenital Cytomegalovirus Infection: Case Description and Review of the Literature

Marseglia Lucia , Alterio Tommaso , Manti Lauretta , Aversa Tommaso , Calafiore Maria Rosa , Gitto Eloisa , Wasniewska Malgorzata

Background: Bilateral adrenal haemorrhage is rare in the neonates and more rarely does it manifest itself as acute adrenal insufficiency (AI). Cytomegalovirus (CMV)-associated AI is a well-known in adults with acquired immunodeficiency syndrome. AI is not a common finding in children with congenital CMV infection. We describe herein the case of a newborn infant presenting with adrenal hematomas (AH), AI and congenital CMV infection.Case report: A 20 day-...

hrp0084p2-172 | Adrenals | ESPE2015

Resveratrol Disrupts Steroidogenesis in Human Foetal Adrenals

Savchuk Iuliia , Soder Olle , Svechnikov Konstantin

Background: The phytoestrogen resveratrol found in grapes and other plants has attracted considerable interest due to its proposed ability to extend lifespan, attenuate the development of metabolic syndrome in obese subjects and protect against cardiovascular disease. Among other functions resveratrol has been reported to affect the endocrine system. Self-medication with high pharmacological doses of this polyphenol with the aim to improve metabolic parameters and health canno...

hrp0084p2-173 | Adrenals | ESPE2015

Normal Ranges of Basal and Glucagon-Stimulated Free Cortisol in Children

Davidov Anita Schachter , Eyal Ori , Anat Anat Becker , Oren Asaf , Stern Naftali , Limor Rona , Weintrob Naomi

Background: Standard assays for serum cortisol measurements determine total cortisol (TC) concentrations but not the unbound biologically active serum free cortisol (sFC). Measurement of TC would be greatly influenced by alteration in cortisol-binding globulin (CBG) concentrations. It is, therefore, important to determine sFC levels when CBG levels are either decreased or increased.Objective and hypotheses: To determine basal and glucagon-stimulated sFC ...

hrp0084p2-174 | Adrenals | ESPE2015

Clinical, Biochemical and Molecular Characteristics of the Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia

Dumic Miroslav , Krnic Nevena , Kusec Vesna , Grubic Zorana , Stingl Katarina , Yuen Tony , Kubat Katja Dumic , Skrabic Veselin , New Maria I

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...

hrp0084p2-175 | Adrenals | ESPE2015

Abnormal Circadian Blood Pressure Profile in Patients with Congenital Adrenal Hyperplasia without Overt Hypertension

Janus Dominika , Wojcik Malgorzata , Tyrawa Katarzyna , Starzyk Jerzy

Background: An abnormal blood pressure (BP) circadian rhythm, and in particular a non- dipping phenomenon is associated with increased cardiovascular and cerebrovascular health risks. In patients on steroid replacement therapy non physiological substitution may affect the BP profile.Objective and hypotheses: i) to evaluate the circadian BP profiles of patients with congenital adrenal hyperplasia (CAH) on steroid replacement therapy, ii) to compare BP pro...

hrp0084p2-176 | Adrenals | ESPE2015

Triple A Syndrome – the Second Most Common Cause of Chronic Adrenal Insufficiency in North Africa?

Mohammedi Kahina , Ladjouze Asmahane , Tebaibia Ammar , Kedji Leila , Maoudj Abdelmajid , Berkouk Karima , Bensmina Manoubia , Amoura Souhila , Boudjella Mohamed El Amine , Laraba Abdennour

Background: Triple A syndrome (AAAS, OMIM#231550) is a very rare inherited disease characterized by the association of chronic adrenal insufficiency, achalasia, alacrima and central and peripheral neurological disorders. It is caused by mutations in the AAAS gene which encodes the nuclear pore complex scaffolding protein ALADIN. The relative prevalence and genotype of AAAS in the Maghreb countries has not been ascertained.Objective and hypotheses: To est...

hrp0084p2-177 | Adrenals | ESPE2015

Analysis the Relationship between Clinical Characteristics and Genotype of Six Cases of Bartter Syndrome and Gitelman Syndrome in Children

Jun Zhang , Qiuli Chen , Song Guo , Ping Yang , Huamei Ma , Yanhong Li , Minlian Du

Background: In developing countries, due to the lack of medical resources, it is necessary to do the preliminary diagnosis of Bartter syndrome and Gitelman syndrome according to the existing clinical data rather than the genetic testing. Is clinical diagnosis consistent with the gene diagnosis?Objective and hypotheses: To summarise the children’s clinical features, furosemide/hydrochlorothiazide loading test and genotype of Bartter syndrome and Gite...

hrp0084p2-178 | Adrenals | ESPE2015

Genotypic Heterogeneity and Clinical Phenotype in Two Patients with Triple A Syndrome (AAAS)

Meloni Antonella , Casini Maria Rosaria , Mazzitti Roberta , Congia Riccardo , Rosatelli Maria Cristina , Bonomi Marco

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

hrp0084p2-179 | Adrenals | ESPE2015

Primary Adrenal Insufficiency: About a Paediatric Series

Nardine Imen , Fedala Nora Soumeya , Derghoum Boubker , Ali Leyla Ahmed , Haddam Ali El Mahdi , Meskine Djamila , Chentli Farida

Background: Adrenal insufficiency in children is rare and potentially serious because of the risk of acute adrenal insufficiency. This complication is lethal in the absence of prompt and appropriate treatment. Aetiologies are dominated by the genetic causes.Objective and hypotheses: Report diagnostic circumstances,phenotypic forms and causes of adrenal insufficiency in children and adolescents.Method: This is a retrospective study ...

hrp0084p2-180 | Adrenals | ESPE2015

High-Dose Hook Effect in 17- Hydroxyprogesterone Assay in 21-Hydroxylase Deficiency

Parlak Mesut , Turkkahraman Doga , Parlak Ayse Eda , Ellidag Hamit Yasar

Background: False-negative results can occur an extremely high level of substrate at the assay system. This is called the ‘high-dose hook effect’.Case presentation: 14 year-old female patient was referred with short stature, amenorea and hirsutism. Height, weight and blood pressure were 140.5 cm (SDS:−3.5), 43.4 kg (SDS:−1.6) and 120/80 mmHg. She had stage 1 Tanner breast, stage 5 pubic hair and hirsutism (mFG scale: 28) with androi...

hrp0084p2-181 | Adrenals | ESPE2015

Baseline Cortisol Concentrations Predict Positively and Negatively Anti- and Pro- Oxidation, Respectively that are Measured Following an Acute Aerobic Exercise Bout in Pre- and Early Pubertal Normal-Weight and Obese Boys

Paltoglou George , Papagianni Maria , Fatouros Ioannis G. , Mantzou Aimilia , Jamurtas Athanasios , Avloniti Alexandra , Stefanaki Charikleia , Kanaka-Gantenbein Christina , Chrousos George P. , Mastorakos George

Background: Little data exist regarding the hypothalamic-pituitary-adrenal (HPA) axis activation and the interplay between the HPA axis and markers of pro- and anti-oxidation in children, following an acute aerobic exercise bout in children.Objective and hypotheses: To investigate the changes of HPA axis hormones following an acute bout of aerobic exercise and their respective association with markers of pro- and anti- oxidation in normal weight and obes...

hrp0084p2-182 | Adrenals | ESPE2015

Insulin Sensitivity and Adipocytokynes in Children with Classical Congenital Adrenal Hyperplasia

Improda Nicola , Cerbone Manuela , Esposito Andrea , Barbieri Flavia , Mase Raffaella Di , Capalbo Donatella , Salerno Mariacarolina

Background: Recent studies demonstrate that children with Congenital Adrenal Hyperplasia (CAH) may develop visceral adiposity and insulin-resistance. Data on adipocytokines are scanty and contradictory.Objective: To evaluate leptin and adiponectin concentrations in CAH adolescents and investigate their correlation with glucocorticoids and hormonal and metabolic profile.Methods: Leptin, adiponectin, insulin and HOMA were evaluated i...

hrp0084p2-183 | Adrenals | ESPE2015

24-H Urinary Free Cortisol as a Screening Test for Cushing’s Syndrome in Children

Shapiro Lucy , Elahi Shezan , Baliey Joe , Perry Les , Martin Lee , Grossman Ashley , Akker Scott , Monson John , Drake William , Savage Martin , Storr Helen

Background: Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. Published diagnostic guidelines for CS are heavily based upon adult data. The use of 24-h urinary free cortisol (UFC) measurements in the diagnosis of adult CS may have limited use. There is little data on the utility of 24-h UFC in children.Objective and hypotheses: We hypothesised that 24-h UFC is a robust and reliable screening test in children. The study...

hrp0084p2-184 | Adrenals | ESPE2015

Familial Hyporeninemic Hyperkalemia and Hypertension (Pseudohypoaldosteronism Type II) in Infancy and Childhood

Hanukoglu Aaron , London Shira , Halevi Rafael , Tenenbaum-Rakover Yardena

Background: Pseudohypoaldosteronism type II (PHAII), is a rare renal tubular disease with an autosomal dominant inheritance characterized by hyperkalemic, hyperchloremic acidosis and hyporeninemia. Mutations in WNK4 and WNK1 were found initially. Recently have shown that KLHL3 and CUL3 are also causative genes.Objective and hypotheses: Hypertension, an essential symptom of PHAII, manifest in adolescents and young adults. In the absence of family history ...

hrp0084p2-185 | Adrenals | ESPE2015

Severe Craniosynostosis Syndrome Associated to Salt Wasting Congenital Adrenal Hyperplasia

Beltrao Luciana Amorim , Apolinario Elisa Cordeiro , Costa Liana Capelo , Lozovei Yve , Castro Simone Martins , Rosa Rafael Fabiano Machado , Kopacek Cristiane

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

hrp0084p2-186 | Adrenals | ESPE2015

Testicular Adrenal Cell Rest Tumours are not Associated with 21 Hydroxylase Mutations or Therapy Compliance in Boys with Classic form of CAH

Kocova Mirjana , Janevska Vesna , Anastasovska Violeta , Sukarova-Angelovska Elena

Background: Testicular adrenal cell rest tumours (TART) are common in adult males treated for congenital adrenal hyperplasia (CAH) and contribute to reduced fertility. Their prevalence varies between 6-50%, and the incidence raises during adolescence.Aim: To explore the appearance of TART in a group of 25 male children in the age group 3-18 years who were treated for CAH.Methods: Compliance to the treatment was assessed through 17O...

hrp0084p2-187 | Adrenals | ESPE2015

A Large Family with a Novel Mutation in the SCNN1A Gene Causing a Mild and Transient form of Autosomal Recessive Pseudohypoaldosteronism Type 1 (PHA1)

Efthymiadou Alexandra , Sertedaki Amalia , Chrousos George , Chrysis Dionisios

Background: PHA1 is a rare inherited disease characterized by resistance to aldosterone action and distinguished in two forms: the autosomal dominant renal form caused by mutations of the NR3C2 gene (MR) and the autosomal recessive systemic form caused by mutations of the subunit genes SCNN1A, SCNN1B, SCNN1G of the epithelial sodium channel (ENaC). The classic phenotype of the autosomal recessive form of PHA1 is usually severe, lifelong, and expressed with mu...

hrp0084p2-188 | Adrenals | ESPE2015

Phosphoglucomutase-1 Deficiency Presented as Adrenal Insufficiency

Loewenthal Neta , Parvari Ruti , Haim Alon , Tavashi Judy , Hetshkovits Eli

Background: The congenital disorders of glycosylation (CDG) are a group of genetic diseases owed to defects in the biosynthesis of glycoproteins and other glycoconjugates. Phosphoglucomutase type 1(PGM1) deficiency is classified among the CDG. Varied range of clinical manifestations recently described includes hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycaemia, myopathy, dilated cardiomyopathy, and cardiac arrest,...

hrp0084p2-189 | Adrenals | ESPE2015

The Aetiological Spectrum of Congenital Adrenal Hyperplasia Based on Molecular Genetic Analyses

Choi Jin-Ho , Kim Ja Hye , Kang Eungu , Cho Ja Hyang , Kim Gu-Hwan , Yoo Han-Wook

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...

hrp0084p2-190 | Adrenals | ESPE2015

Higher Serum DHEAS Concentration is Associated with Lower Plasma LDL Cholesterol Concentration in Children

Mantyselka Aino , Jaaskelainen Jarmo , Lindi Virpi , Lakka Timo

Background: Premature adrenarche is associated with overweight and insulin resistance, but the associations of serum dehydroepiandrosterone sulphate (DHEAS) concentration with other cardiometabolic risk factors are uncertain.Objective and hypotheses: We studied whether cardiometabolic risk factors and their clustering differ between children with higher and lower serum DHEAS concentration.Method: We studied 432 healthy children (20...

hrp0084p2-191 | Adrenals | ESPE2015

Central Adrenal Insufficiency is not a Common Feature in CHARGE Syndrome

Bocca Gianni , Wong Monica , Ravenswaaij-Arts Conny van

Background: CHARGE syndrome (acronym for coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital hypoplasia, and ear abnormalities) is caused by a mutation in the CHD7 gene. CHARGE syndrome shares features with Prader-Willi syndrome, especially regarding hypothalamic-pituitary abnormalities. In Prader-Willi syndrome, central adrenal insufficiency (CAI) during stressful conditions has been described in a large number of pati...

hrp0084p2-192 | Adrenals | ESPE2015

Baseline Adrenal Function by Measurement of Long-term Cortisol Levels in Scalp Hair of Asthmatic Children Using Inhaled Corticosteroids Equals Healthy Controls

Smit Maria , van Leer Ed , Noppe Gerard , de Rijke Yolanda , Hoekx Jurriaan , van den Akker Erica

Background: Inhalation corticosteroids (ICS) as treatment for asthma can interfere with the hypothalamic-pituitary-adrenal axis and could lead to hypocortisolism. The frequency of this systemic side effect and the correlation to ICS usage is still unclear. Given that the cortisol excretion is pulsatile and determined by acute stress and circadian rhythms, the usefulness of tests based on momentary measures, such as saliva or serum are therefore limited. Cortisol levels measure...

hrp0084p2-193 | Adrenals | ESPE2015

Adrenal Function in Children Born Small for Gestational Age

Petraitiene Indre , Verkauskiene Rasa

Background: Subjects born small for gestational age (SGA) were shown to be at higher risk to metabolic consequences later in life and this might be related to changes in hypothalamic–pituitary–adrenal axis.Objective and hypotheses: We aimed to investigate DHEAS and cortisol levels in adolescents born SGA or appropriate for gestational age (AGA) and their relationship with perinatal and postnatal factors.Method: A prospect...

hrp0084p2-194 | Adrenals | ESPE2015

Cushing’s Syndrome in Children and Adolescents: About a Paediatric Series

Houatia Aicha , Fedala Soumeya Nora , Haddam Ali El Mahdi , Meskine Djamila , Chentli Farida

Background: Cushing’s syndrome in children and adolescents is rare. Its clinical and biological symptoms are severe with a significant impact on growth and puberty and poor prognosis.Objective and hypotheses: Report clinical, etiological and evolutionary characteristics of Cushing’s syndrome in children and adolescents.Method: This is a retrospective study of 45 children and adolescents with Cushing’s syndrome hospit...

hrp0084p2-195 | Adrenals | ESPE2015

Serum Cortisol and Cortisone Ratio as Sensitive Tool to Identify Subjects With Severe or Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency

Carvajal Cristian , Iturrieta Virginia , Campino Carmen , Valdivia Carolina , Lizama Jaime , Allende Fidel , Solari Sandra , Baudrand Rene , Lagos Carlos , Vecchiola Andrea , Martinez-Aguayo Alejandro , Garcia Hernan , Fardella Carlos

Background: Severe deficiency of 11β-hydroxysteroid dehydrogenase type 2 (11βHSD2) triggers activation of mineralocorticoid receptor (MR) by cortisol and causing apparent mineralocorticoid excess (AME) syndrome characterized mostly by low-renin arterial hypertension and hypokalemia. In 2003, we studied a patient with AME (3 years-old) having two homozygous mutation, D223N (rs121917833) and a SNP C>T in intron 3 (rs376023420) (Carvajal et al. JCEM 2003).<p cla...

hrp0084p2-196 | Adrenals | ESPE2015

The Role of the Nurse Practitioner in Optimising Care for Children with Congenital Adrenal Hyperplasia

van de Crommert Viviane , van Alfen-van der Velden Janielle , van der Linde Annelieke , Noordam Kees , Claahsen-van der Grinten Hedi

Background: Congenital Adrenal Hyperplasia (CAH) is a rare group of congenital adrenal diseases with an estimated prevalence of about ten newly diagnosed patients in the Netherlands per year. Morbidity and mortality improved significantly in the last 20 years mainly due to improvement of multidisciplinary care and education of patients and parents. In the last years the role of the nurse practitioner (NP) as case manager in the care and follow up of patients with chronic disea...

hrp0084p2-197 | Adrenals | ESPE2015

Evaluation of Medical Treatment in the First 2 Years of Life with a New Dutch National Longitudinal Registry for Children with Congenital Adrenal Hyperplasia (CAH)

van der Linde Annelieke , van den Akker Erica , Bakker- van Waarde Willy , Hannema Sabine , Hoorweg-Nijman Gea , van de Kamp Hetty , Klink Daniel , Odink Roelof , Straetemans Saartje , van Trotsenburg Paul , Verkerk Paul , Claahsen-van der Grinten Hedi

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

hrp0084p2-198 | Adrenals | ESPE2015

Incidence of Nonclassical 21-Hydroxylase Deficiency in Russian Population as Estimated by the Carrier Frequency of V281l Mutation

Anosova Tatiana , Tiulpakov Anatoly

Background: Nonclassical 21-hydroxylase deficiency (NC21OHD) is one of the most common monogenic diseases. Its frequency varies significantly among different ethnic groups. In Russians the frequency of NC21OHD is unknown.Objective and hypotheses: To estimate the incidence of NC21OHD in Russia based on the carrier frequencies of the two most common mutations associated with this disease (V281L and P30L).Method: A total of 998 random...

hrp0084p2-199 | Adrenals | ESPE2015

Cardio-Metabolic Risk Factors in Children and Adolescents with Classical 21-Hydroxylase Deficiency

Ariyawatkul Kansuda , Tepmongkol Supatporn , Sahakitrungruang Taninee

Background: Recent studies suggest patients with congenital adrenal hyperplasia (CAH) have adverse cardiovascular risk profile and other long-term health problems in adult life. However, there are limited data of these comorbidities in paediatric CAH patients.Objective and hypotheses: To evaluate the cardio-metabolic risk factors in children and adolescents with classical 21-hydroxylase deficiency (21-OHD) compared with age, sex and puberty-matched healt...

hrp0084p2-200 | Adrenals | ESPE2015

A Novel Mutation (c.delG209) in the Proopiomelanocortin Gene in a Child with Early-onset Obesity

Cetinkaya Semra , Guran Tulay , Kurnaz Erdal , Keskin Meliksah , Sagsak Elif , Erdeve Senay Savas , Buonocore Federica , Aycan Zehra

Background: Proopiomelanocortin (POMC) deficiency is characterized by early-onset obesity, adrenal failure, red hair and pale skin. The first genetic mutation in the POMC gene was demonstrated in 1998. This disorder is rare, but has increased our insight into the important role of the leptin-melanocortin pathway in energy balance. POMC deficiency causes obesity due to the inadequate production of alpha and beta MSH from POMC, which normally activate the melanocortin 3 receptor...

hrp0084p2-201 | Adrenals | ESPE2015

Improved Linear Growth in Patients with Classical Congenital Adrenal Hyperplasia

Roma Silvia , Bizzarri Carla , Scire Giuseppe , Spadoni Gian Luigi , Cappa Marco , Maggioli Chiara

Background: Poor linear growth is still one of the main concerns in children with congenital adrenal hyperplasia (CAH). An impairment of linear growth, adversely affecting final height, has been related both to overtreatment with glucocorticoid replacement therapy and to poor control of adrenal androgen levels.Objective and hypotheses: To define factors that influence linear growth and final height in patients with classical CAH.Me...

hrp0084p2-202 | Adrenals | ESPE2015

Autoimmune Polyglandular Syndrome Type 1 in Russia: Clinical Experience in 112 Patients

Orlova Elizaveta , Sozaeva Leila , Kareva Maria , Oftedal Bergithe E , Breivik Lars , Knappskog Per M , Zakharova Ekaterina , Husebye Eystein S , Peterkova Valentina

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....

hrp0084p2-203 | Adrenals | ESPE2015

Autoimmune Encephalitis – A Newly Recognised Clinical Manifestation of Autoimmune Polyendocrine Syndrome Type 1?

Ferenczova Juliana , Vargova Veronika , Krysl David , Banoova Erika , Sadova Eva

Background: Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disease. The classic features are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Several non-classic presentations of the disease has been described over the last few years. Authors present a case of 14-year old girl with a new serious non-classic presentation.Case presentation: Patient was diagnosed with a mucocutaneous candidiasis...