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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

hrp0084p3-581 | Adrenals | ESPE2015

New Mutation Causing Systemic Pseudohypoaldosteronism

Pedicelli Stefania , Cambiaso Paola , Zennaro Maria-Christina , Ferro Giusy , Cianfarani Stefano , Cappa Marco

Background: Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance. PHA type 1 (PHA1) is characterized by neonatal salt loss, failure to thrive, dehydration and circulatory shock. It includes two forms: renal (autosomal dominant), due to mutations in mineralocorticoid receptor coding gene NR3C2, and systemic (autosomal recessive), due to mutations in subunit genes of the epithelial sodium channel (ENaC). ENaC is constituted of three subu...

hrp0084p3-582 | Adrenals | ESPE2015

Rapid Molecular Diagnosis of CAH by Strip Hybridisation Assay in DEMPU

El-Mougy Fatma , Hafez Mona , Atty Sahar Abdel , Ibrahim Amany , Mehawed Hend , Musa Noha , Ekladious Sherif , Elsharkawy Marwa , Abdullatif Mona , Afif Alaa , Baz Heba El

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which more than 90% of CAH cases are caused by mutations of the 21-hydroxylase (CYP21A2) gene.Objective and hypotheses: To determine the mutational spectrum in Egyptian CAH patients attending Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) including family members of CAH patients.Method: The use of reverse hybridization assay for the mol...

hrp0084p3-583 | Adrenals | ESPE2015

Insufficient Mineralocorticoid Replacement as a Predictor Factor for the TART in Boys with Congenital Adrenal Hyperplasia

Chugunov Igor , Kareva Maria , Orlova Elizaveta , Kuznecova Elvira

Background: Testicular adrenal rest tumor (TART) is one of the main causes of decreased fertility in men with congenital adrenal hyperplasia (CAH). TART may occurs in childhood but there is no currently identified factors influencing the development of this condition.Objective and hypotheses: To study the role of glucocorticoid and mineralocorticoid undertreatment in the TART development in children and adolescents with CAH, 21-hydroxylase deficiency.</p...

hrp0084p3-584 | Adrenals | ESPE2015

CYP11B1 Gene Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey

Bas Firdevs , Ergun-Longmire Berrin , Saka Nurcin , Toksoy Guven , Uyguner Oya , Poyrazoglu Sukran , Ahmed Shaun , Cobb Edward , Altunoglu Umut , Bundak Ruveyde , Darendeliler Feyza , Gunoz Hulya , New Maria I , Wilson Robert

Background: Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11OHD), a rare autosomal recessive disorder, is the second most common form of CAH, resulting in glucocorticoid deficiency, hyperandrogenism and hypertension.Objective and hypotheses: To investigate the specific CAH mutations in CYP11B1 gene and to examine for genotype-phenotype correlations.Method: 21 patients (n=9, 46, XX; <...

hrp0084p3-585 | Adrenals | ESPE2015

Living with Adrenal Hyperplasia for Children in Primary School between 6 and 11 Years; Educational Innovation and Design of a Learning Tool for Therapeutic Education

Pienkowski Catherine , Cartault Audrey , Durand Adelaide , Ajaltouni Zeina , Jouret Beatrice , Tauber Maithe

Background: Congenital adrenal hyperplasia (CAH) is a rare chronic disease diagnosed and treated from birth. Hormone replacement therapy is essential to lead a normal life and must be adapted to stress. Poor compliance to treatment or inefficacy is life threatening leading to high risk of by dehydration and hypoglycaemia.Objective: The objective of therapeutic education sessions is based on the skills needed for regular intake of pills and recognition of...

hrp0084p3-586 | Adrenals | ESPE2015

Longitudinal Changes During Prepubertal Years in Visceral Fat and Steroid Hormones – SGA vs AGA Children

Ankarberg-Lindgren Carina , Andersson Mats X , Karlsson Ann-Katrine , Dahlgren Jovanna

Background: Small for gestational age (SGA) children have reportedly increased DHEAS levels during prepubertal years. However, steroid hormones have not been followed longitudinally in a healthy population compared to body composition.Aims and objectives: To evaluate steroid hormone patterns in prepubertal children correlated to visceral fat measures.Methods: Body composition was investigated with magnetic resonance (MR) of truncal...

hrp0084p3-587 | Adrenals | ESPE2015

Adrenal Atrophy Secondary to Inappropriate Oral Administration of Exogenous Steroid Presenting with Hypercalcaemia

Guven Ayla , Kilinc Suna , Helvacioglu Didem , Kuru L ihsan

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

hrp0084p3-588 | Adrenals | ESPE2015

Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?

Schulz Esther , Akkurt Halit Ilker , Muhlhausen Chris , Santer Rene , Welzel Maik , Holterhus Paul Martin

Background: Congenital isolated ACTH-deficiency is a rare disorder characterized by low plasma ACTH and cortisol levels and normal secretion of other pituitary hormones. TBX19 is a t-box transcription factor with a specific role in the differentiation of corticotroph cells. TPIT gene mutations can be found in early onset isolated ACTH deficiency.Case report: We report on a 2; 6 year old girl, offspring from consanguineous parents from Turkey, born at 40 ...

hrp0084p3-589 | Adrenals | ESPE2015

Deletion Mapping in Xp21 for a Family with Complex Glycerol Kinase Deficiency Using Array-Based Comparative Genomic Hybridisation

Zheng Zhangqian , Luo Feihong , Wu Bingbing , Zhang Miaoying

Aims: Complex glycerol kinase deficiency is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, adrenal hypoplasia congenita, Duchenne muscular dystrophy and intellectual disability. There are no definite dysmorphic features for this syndrome. The diagnosis is based on clinical and laboratory findings. Usually the first and most severe are the signs of adrenal hypoplasia, which, if not cured, may lead to death in a short tim...

hrp0084p3-590 | Adrenals | ESPE2015

Characterisation of Ovarian Adrenal Rest Tumours in Children and Adolescent Females with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Su Zhe , Li Yanhong , Ma Huamei , Du Minlian

Background: Ovarian adrenal rest tumours (OARTs) are rare in contrast to testicular adrenal rest tumours (TARTs).Objective and hypotheses: To summarise the characterization of OART in children and adolescent females with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD).Method: We have diagnosed four cases of CAH 21-OHD with OART in the recent 5 years and summarised the characterisations.<p class="a...

hrp0084p3-591 | Adrenals | ESPE2015

Pseudohypoaldosteronism – Subtle Presentations with Critical Electrolyte Imbalances Experiences from One Hospital

Ponmani Caroline , Karampoulos Kostas , Keane Morgan , Gomes Sylevester , Eaqub Aber , Banerjee Kausik

Background: Secondary pseudohypoaldosteronism presents with hyponatremia and hyperkalemia due to a transient aldosterone resistance.Objective and hypotheses: We recommend a check of urea and electrolytes in all infants with urinary tract infection, dehydration and failure to thrive.Method: A 5 month old presented with a day’s history of poor feeding and two episodes of vomiting. He was afebrile with normal observations. His ur...

hrp0084p3-592 | Adrenals | ESPE2015

Atypical Prednisone-Metabolism: Pharmacological Studies in a Boy with Classical Adrenal Hyperplasia and Suspected Malcompliance

Hess Melanie , Derungs Adrian , Zumsteg Urs W , Szinnai Gabor

Background: We present a boy with classical adrenal hyperplasia (CAH) and constantly increased 17-OH-progesterone (17-OH-P) values despite multiple dose adjustments of hydrocortisone up to 18 mg/m2 body surface and addition of fludrocortisone. After puberty, therapy was changed from hydrocortisone to prednisone without improvement of the 17-OH-P values. Non-compliance was suspected as cause of the inadequately controlled CAH. Alternatively, an atypical steroid metab...

hrp0084p3-593 | Adrenals | ESPE2015

CYP21A2 Gene Mutations Analysis in 21 Chinese Patients with Salt-Wasting form of Congenital Adrenal Hyperplasia

Yao Hui , Yang Luhong , Huang Xiaoli , Chen Xiaohong

Background: Studies about the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH) in Chinese children are less.Objective and hypotheses: Study the genotypes of Chinese probands with salt-wasting form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and performed pedigree-based linkage analysis.Method: We have performed genetic-testing (Method...

hrp0084p3-594 | Adrenals | ESPE2015

X-Linked Adrenoleucodystrophy Presenting as Addison’s Disease in Childhood: A Case Report

Meloni Antonella , Congia Mauro , Casini Maria Rosaria , Ibba Silvia , Bonomi Marco , Rosatelli Maria Cristina

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

hrp0084p3-595 | Adrenals | ESPE2015

Three Siblings with Corticosterone Methyloxidase Deficiency Type 2 due to c.1175T>C Mutation +a Novel c.788T>A Mutation in CYP11B2 Gene

Ozcabi Bahar , Evliyaoglu Olcay , Ercan Oya , Bucak Feride Tahmiscioglu , Adrovic Amra , Ceylaner Serdar

Background: Corticosterone methyloxidase deficiency (CMOD) type 2 is an autosomal recessive disorder which presents with salt loss and failure to thrive in early childhood. We present three siblings with CMOD type 2 whose genetic analyses revealed a known c.1175T>C mutation (homozygous) and a novel c.788T>A mutation (homozygous) in CYP11B2 gene.Case 1: The patient was admitted with salt loss and failure to thrive at the age of 6 months; ...

hrp0084p3-596 | Adrenals | ESPE2015

Transient Pseudohypoaldosteronism as a Complication of Infected Obstructive Uropathy in Infancy, a Case Series

Da Costa Alexandra Rodrigues , Glew Simon , Fonseka Geetha , Ismail Dunia

Background: Pseudohypoaldosteronism is a rare condition of renal or systemic resistance to aldosterone, divisible into separate clinical presentations, each with a distinct physiological and genetic basis. Transient pseudohypoaldosteronism is a secondary form, characterised by reduced glomerulofiltration rate. It has been described in infants with obstructive uropathy and urinary tract infections.Method: We present five cases, presenting in infancy with ...

hrp0084p3-597 | Adrenals | ESPE2015

Generalised Glucocorticoid Resistance in an Adolescent Girl with Severe Hyperandrogenia without Mutations in NR3C1 Gene

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria

Background: Generalised glucocorticoid resistance (Chrousos syndrome) is a rare inherited disease characterized by tissue insensitivity to glucocorticoids and associated with defects in human glucocorticoid receptor (hGR) gene (NR3C1, 138040). Despite of elevated serum and urine cortisol the patients do not develop clinical picture of Cushing syndrome but present with hyperandrogenia and hypertension.Case presentation: We present a case in which clinical...

hrp0084p3-598 | Adrenals | ESPE2015

Remission with Cabergolin with Recurrent Hypercortisolism after Pituitary Surgery in Cushing’s Disease

Ozen Samim , Ozcan Nurhan , Majidov Ilkin , Turhan Tuncer , Cinar Celal , Goksen Damla , Darcan Sukran

Background: Diagnosis and treatment of Cushing’s disease in children are challenging.Objective and hypotheses: Cabergolin is a long acting dopamine receptor agonist used for the treatment of patients with recurrent Cushing’s disease.Method: year-old female patient admitted to the hospital because of short stature, amenorrhea, facial and body hair growth, rapid weight gain, hair loss and excessive acne.<p class="abstex...

hrp0084p3-599 | Adrenals | ESPE2015

Phaeochromocytoma in Placental Mesenchymal Dysplasia: Who Should We Screen and for How Long?

White Mary , McGillivray George , White Sue , Zacharin Margaret

Background: Beckwith-Wiedemann syndrome (BWS) characterised by a group of clinical abnormalities (macrosomia, macroglossia, neonatal hypoglycaemia, omphalocoele and umbilical hernia) results from dysregulation of imprinted genes due to mosaic paternal uniparental isodisomy (patUPD) of 11p15.5. Its association with tumours of embryonic origin is well documented and screening guidelines largely aim to detect hepatoblastoma and Wilm’s tumours during the first decade of life....

hrp0084p3-600 | Adrenals | ESPE2015

A Double Dose of Triples

Nagesh V Sri , Reddy Y Muralidhar , Ranganath Prajnya , Aggarwal Shagun , Reddy Vikrant

Background: 14½ year old girl presented with increased skin pigmentation, weakness of limbs and walking difficulty and delayed puberty.Objective and hypotheses: To evaluate the girl for the aetiology of hyperpigmentation, neuromuscular weakness and delayed development of secondary sexual characters.Method: The girl was evaluated by neurologist and found to have development delay, sensory and motor neuropathy, ataxia, amyotroph...

hrp0084p3-601 | Adrenals | ESPE2015

Central Cortisol Deficiency (Isolated ACTH Deficiency) in a Child

Alyafei Fawzia , Soliman Ashraf

Background: Isolated ACTH deficiency is a very rare condition, there is only seven cases in the literature reported after infancy and the cause is still unknown.Case study: We are reporting 11.5 years old Qatari boy who was known to have G6PD deficiency only and who presented with generalised tonic colonic seizure at the day of admission with history of fever, ear pain and discharge fatigue and excessive sleep, and vomiting for 4 days. He had fever (39C)...

hrp0084p3-602 | Adrenals | ESPE2015

The First Case of Primary Generalized Glucocorticoid Resistance in Serbia in an 8-Year-Old Boy with G679S Mutation of the NR3C1 Gene

Mitrovic Katarina , Vukovic Rade , Milenkovic Tatjana , Todorovic Sladjana , Plavsic Ljiljana , Zdravkovic Dragan

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare genetic condition characterised by generalised, partial target-tissue insensitivity to glucocorticoids owing to inactivating mutations of the NR3C1 gene.Case presentation: An 8.5-year-old boy was hospitalized because of precocious puberty and arterial hypertension. Over the last year, the appearance of pubic hair and gynecomastia were noted. At the local centre, high leve...

hrp0084p3-603 | Adrenals | ESPE2015

A Case of Phaeochromocytoma Diagnosed as Adrenal Incidentaloma

Vuralli Dogus , Agras Pinar Isik , Tapci Esra , Dallar Yildiz Bilge

Background: There are two main problems that should be solved when encountering adrenal incidentaloma. The first of these is to decide whether the adrenal mass is benign or malignant and the second is to determine whether the mass is hormonally active or not.Objective and hypotheses: We aimed to focus on the approach to adrenal masses in childhood.Method: A case of phaeochromocytoma, which was diagnosed as incidentaloma is presente...

hrp0084p3-604 | Adrenals | ESPE2015

Severe High Blood Pressure with Renal Failure in a Neglected Case of 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Belceanu Alina Daniela , Munteanu Mihaela , Florea Mariana , Ungureanu Maria-Christina , Zmau George , Puiu Mirela , Armasu Ioana , Mogos Voichita , Vulpoi Carmen

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

hrp0084p3-605 | Adrenals | ESPE2015

Delayed Diagnosis of Salt Wasting Congenital Adrenal Hyperplasia, without Complications of Cortisol Deficiency: A Case Report

Pijnenburg-Kleizen Karijn , Noordam Kees , Otten Barto , Claahsen-van der Grinten Hedi

Background: In salt wasting congenital adrenal hyperplasia (SW-CAH) patients suffer from a deficiency of both cortisol and aldosterone and develop life-threatening salt wasting crises neonatally. Treatment consists of glucocorticoids, mineralocorticoids and salt supplementation. We present a case with a two years delayed diagnosis of SW-CAH.Case presentation: The patient was admitted to the hospital at the age of two weeks because of poor feeding, irrita...

hrp0084p3-606 | Adrenals | ESPE2015

Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?

Martinez-Aguayo Alejandro , Mendoza Carolina , Loureiro Carolina , Campino Carmen , Carvajal Cristian , Baudrand Rene , Rumie Hana , Bancalari Rodrigo , Garcia Hernan , Vecchiola Andrea , Valdivia Carolina , Fardella Carlos

Background: Familial hyperaldosteronism type 1 (FH-1), is caused by the presence of a chimeric CYP11B1/CYP11B2 gene that produces high amounts of aldosterone in response to ACTH and severe hypertension. An early diagnosis and treatment are important, not only to manage hypertension but also to avoid possible deleterious effects of aldosterone on the endothelium and cardiovascular diseases.Clinical case: A 3 months old boy was referred for evalua...

hrp0084p3-607 | Adrenals | ESPE2015

Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

Maggio Maria Cristina , Vergara Beatrice , Salvo Caterina , Porcelli Paolo , Fabiano Carmelo , Corsello Giovanni

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldostero...

hrp0084p3-608 | Adrenals | ESPE2015

A Prospective Evaluation of Anthropometric and Metabolic Profile Premature Adrenarche Patients

Karabulut Gulcan Seymen , Imal Murat , Cizmecioglu Filiz Mine , Hatun Sukru

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair before 8 years in girls and 9 years in boys.Objective and hypotheses: We aimed to evaluate the anthropometric measures, hormonal values of children with PA at time of diagnosis, distinguishing the patients with late onset congenital adrenal hyperplasia and to analyse the components of insulin resistance, obesity, hyperlipidemia, metabolic syndrome, menstrual ...

hrp0084p3-609 | Adrenals | ESPE2015

The Prevalence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Children 0–18-Years-Old in Ukraine

Zelinska Nataliya , Pogadayeva Nataliya , Globa Evgenia , Shevchenko Irina

Background: The prevalence of congenital adrenal hyperplasia (CAH) in European countries is reported as 1:10–15 000. It depends on the quality of its diagnostics and efficacy of neonatal screening (NS). In Ukraine the NS was started in 2012.Objective and hypotheses: This is the first study of CAH epidemiology in children 0–18-year-old in Ukraine.Method: In 2013 it was created a database (DB) of Ukrainian children with CAH...

hrp0084p3-610 | Adrenals | ESPE2015

Development of a Patient with Severe Pseudohypoaldosteronism due to Mutation in the α Subunit of ENaC

Lankes Erwin , Krude Heiko , Schnabel Dirk

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disease which is characterised by hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of aldosterone and renin. Aldosterone resistance is caused either by a mutation of the mineralocorticoid receptor gene or the epithelial sodium channel (ENaC). First causes autosomal dominant PHA1, also called renal form, second is responsible for the more severe and systemic form of PHA1 and is inherited in an autosom...

hrp0084p3-611 | Adrenals | ESPE2015

Methodological Considerations into the Approach for Genetic Diagnostics of Congenital Adrenal Hyperplasia in a Girl with SW Form and Relatively Higher Needs of Mineral Corticoids

Dineva Ganka , Stoeva Iva , Kirov Andrey , Todorova Albena , Iliev Daniel , Kaleva Narcis , Grozdanova L

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

hrp0084p3-612 | Adrenals | ESPE2015

11β-Hydroxylase Deficiency: 20 Years Follow-Up

Guven Ayla , Helvacioglu Didem , Kilinc Suna

Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 0–1.18). Hydrocortisone was introduced immediately aft...

hrp0084p3-613 | Adrenals | ESPE2015

Near-Final Height Outcome of Congenital Adrenal Hyperplasia due to Classic 21-Hydroxylase Deficiency in 55 Chinese Patients

Lin Juan , Ma Huamei , Li Yanhong , Du Minlian , Chen Hongshan , Chen Qiuli , Zhang Jun

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is reported inadequate growth and impairment of the final height (FH).Objective: We present the results of near FH in 55 patients with classic 21-OHD followed up for approximately 11.6 years(the longest 25.3 years)in a single institution, and the variables related to NFH.Method: Patients with classic 21-OHD followed up at our clinic, who had ...

hrp0084p3-614 | Adrenals | ESPE2015

Late Diagnosis of Childhood Adrenal Insufficiency and Hypogonadotropic Hypogonadism due to DAX 1 Gene Mutation

Karantza Maria , Bogris Sotirios , Chrousos George , Sertedaki Amalia

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

hrp0084p3-615 | Adrenals | ESPE2015

Paraaortical Paragangliomas as Incidental Findings in a Female Adolescent

Mouzaki Konstantina , Kotanidou Eleni , Ioannidou Maria , Karaiskou Evangelia , Kyrgios Ioannis , Arsos Georgios , Tsitouridis Ioannis , Efstratiou Ioannis , Eboriadou-Petikopoulou Maria , Galli-Tsinopoulou Assimina

Background: Paragangliomas are exceptionally rare neuroendocrine tumours for children and adolescents, located in an extraadrenal position and usually producing catecholamine.Case presentation: A 13.5-year-old girl with a known history of multiple exostosis disease was presented for investigation of two large nodal oval para-aortic lesions, which were incidentally found during abdominal ultrasonography. Medical history of the girl included non-autoimmune...

hrp0084p3-616 | Adrenals | ESPE2015

Nephrotic Syndrome Developing in a Girl with Classic 21-Hydroxylase Deficiency – First Report

Ma Huamei , Lin Juan , Zhang Jun , Li Yanhong , Chen Qiuli , Chen Hongshan , Du Minlian

Background: Nephrotic syndrome is the most common cause of kidney disease in children, but its pathogenesis remains unclear. Nephrotic syndrome in patients with congenital adrenal hyperplasia has not been reported.Case presentation: A 38-month-old female child was admitted with eyelid edema. She was the first child (birth weight, 3.0 kg, full term) of non-consanguineous parents of Chinese Han ethnicit. She had been diagnosed with congenital adrenal hyper...

hrp0084p3-617 | Adrenals | ESPE2015

Conservative Treatment Allows Substantial Improvement of Neonatal Cushing Syndrome in McCune Albright Syndrome, a 2 Year Follow-up

van Nieuwaal Nancy HG , Houwen Roderick H J , van der Grinten Hedi L Claahsen , Stuart Annemarie A Verrijn

Background: McCune Albright syndrome (MAS) is defined by the classic triad of precocious puberty, fibrous dysplasia of bone and café au lait skin pigmentation. However, the clinical spectrum is often more variable due to mosaic distribution of the postzygotic GNAS-mutation. Hypercortisolism occurs in a minority (5%) of patients. It is most frequently caused by nodular adrenal hyperplasia and can be life-threatening. Decisions on whether clinical management should be conse...

hrp0084p3-618 | Adrenals | ESPE2015

A CYP21A2 Gene Mutation in Patients with Congenital Adrenal Hyperplasia: Molecular Genetics Report from Saudi Arabia

Mohamed Sarar , El-Kholy Suzan , Al-Juryyan Nasir , Al-Nemri Abdulrahman M , Abu-Amero Khaled K

Background: Although the clinical presentations of congenital adrenal hyperplasia (CAH) have been studied in Saudi children, the literature review revealed no molecular report of 21-hydroxylase was published.Objective and hypotheses: The aim of this study was to determine the pattern of CYP21A2 gene-mutations of CAH in Saudi children.Method: Between January 2011 and March 2014 at King Fahad Military Complex, Dhahran, Saudi Arabia, ...

hrp0084p3-619 | Adrenals | ESPE2015

Adrenal Cortex Dysfunction as a Consequence of Chronic Therapies other than Oral Steroid Therapy – Cases Presentation

Rogozinska Izabela , Grela Krystyna

Background: An iatrogenic adrenal insufficiency as the consequence of chronic oral high doses steroid therapy is well known to developmental age medicine, other iatrogenic causes of this condition being rare.Objective and hypotheses: The primary objective of this study is to describe cases of adrenal dysfunction – hypofunction as well as hyperfunction - being caused by factors other than oral steroid therapy.Method: This is an...

hrp0084p3-620 | Adrenals | ESPE2015

A Rare Cause of Hypertensıon: Pseudophaeochromocytoma

Hatipoglu Nihal , Gul Ulku , Okdemir Deniz , Akin Leyla , Kendirci Mustafa , Kurtoglu Selim

Background: Although phaeochromocytoma is commonly considered in the differential diagnosis paroxysmal hypertension, only a small percentage of patients are actually diagnosed with this disorder. After exclusion of phaeochromocytoma, panic attack and pseudophaeochromocytoma should be considered in the differential diagnosis in patients with these symptoms. Here we report a rare case of pseudophaeochromocytoma presented with severe symptomatic hypertension attacks.<p class=...

hrp0084p3-621 | Adrenals | ESPE2015

A Case of X-Linked Adrenal Hypoplasia Congenita – Adrenal Hypoplasia Congenita, Glycerol Kinase Deficiency and Duchenne Muscular Dystrophy

Yuksel Bilgin , Mengen Eda , Seker Gul Cirkin , Gurbuz Fatih , Topaloglu Ali Kemal

Introduction: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations of the NR0B1 gene encoding DAX1 on chromosome Xp21. AHC also occurs as part of a contiguous gene deletion syndrome together with Duchenne muscular dystrophy, glycerol kinase deficiency (GKD), mental retardation, or a combination of these conditions. Here, we report a male 5 years old with AHC who presented with adrenal insufficiency, GKD, and duchenne muscular dystrophy due to a mutation in the DA...

hrp0084p3-622 | Adrenals | ESPE2015

Prenatal Treatment of Congenital Adrenal Hyperplasia: A Survey of Paediatric Endocrinologist

Guindulain Maria J Chueca , Riano-Galan Isolina , Cardon Elisabeth Blarduni , Perez Ma Victoria Borras , Feijoo Lidia Castro , Lopez Ignacio Diez , Sanz Ma Angeles Donoso , Aromir Gertrudis Marti , Calvo Ma Teresa Munoz , Mercader Pilar Terradas

Background: Prenatal dexamethasone (DXM) treatment has been proposed to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH), however its safety has been questioned for potential adverse effects on the foetus and the mother.Objective and hypotheses: To analyse clinical practice and prenatal treatment experience with DXM during pregnancy at risk of having her daughters with severe CAH.Method: An online sur...

hrp0084p3-623 | Adrenals | ESPE2015

A Case of ACTH Resistance with Generalized Hyperpigmentation at Birth

Sasasaki Takako , Naoko Amano , Narumi Satoshi , Hasegawa Tomonobu , Tomita Mai , jyunichirou Okada , Shuichi Yatsuga , Koga Yasutoshi

Background: The MC2R gene (MC2R) encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalized hyperpigmentation at birth.Objective and hypotheses: The MC2R encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalised hyperpigmentat...

hrp0084p3-624 | Adrenals | ESPE2015

Clinical and Genotypic Characterization of Simple Virilising Forms of Congenital Adrenal Hyperplasia

Cardoso Rita , Pacheco Susana , Caetano Joana Serra , Dinis Isabel , Mirante Alice

Background: Congenital adrenal hyperplasia (CAH) is a recessive disease in 90% caused by 21-hidroxilase deficiency. The clinical manifestations are related with the severity of enzyme deficiency and are classified in classical and non classical forms. The classical form is the most severe with genital ambiguity in female newborns and universal virilisation. In 75% there is also aldosterone deficiency with salt wasting.Objective and hypotheses: To describ...

hrp0084p3-625 | Adrenals | ESPE2015

‘Reexpansion’ of Testicular Tissue after Testis-Sparing Surgery in an Adolescent

Sen Yasar , Cimbek Emine Ayca , Yuca Sevil Ari , Ciftci Ilhan , Bugrul Fuat

Background: Boys with 21-hydroxylase deficiency (21-OHD) develop testicular adrenal rest tumors (TARTs) at a high percentage. TARTs may lead to testicular structure damage and infertility. Treatment consists of increasing the glucocorticoid dose to suppress ACTH or surgery when necessary.Objective and hypotheses: We present an adolescent with TART who was treated by testicular sparing surgery at the age of 11.Method: A 13 -year-old...

hrp0084p3-626 | Adrenals | ESPE2015

Exogenous Cushing’s Syndrome due to Misuse of Topical Corticosteroid Therapy

Korpal-Szczyrska Maria , Mysliwiec Malgorzata

Background: The development of Cushing’s syndrome from topical corticosteroids in children is rare. It is most often reported in infants after misuse of high potency steroid creams for diaper dermatitis. 0.1% mometasone is a mild-strength topical steroid and so far to our knowledge no Cushing’s syndrome in children after its usage was documented.Objective and hypotheses: The aim was to present a case of iatrogenic Cushing’s syndrome in a 4...

hrp0084p3-627 | Adrenals | ESPE2015

Familial Glucocorticoid Deficiency – A Case Report

Atapattu Navoda , Mohomad Sureka , Rathnasiri Shammi , Wijesuriya Asoka Padmakanthi

Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder associated with isolated glucocorticoid deficiency. Melanocortin−2 receptor (MC2R), account for approximately 25% of FGD cases.Case report: 3 year old girl presented with recurrent hypoglycaemic episodes from day 2 of life. She was a product of consanguineous family born with a birth weight of 2.3 kg. At birth she was found to be dark in complexion from birt...