Adrenal P2

hrp0086p2-p49 | Adrenal P2 | ESPE2016

Evaluation of the Combination of Anti-androgen and Anti-estrogen Treatment in Classical Congenital Adrenal Hyperplasia in Boys: Retrospective Study of 11 Cases

Lefevre Christine , Weill Jacques , Mazoyer Harmony , Cartigny Maryse

Background: Final height (FH) is reduced in congenital adrenal hyperplasia (CAH), due both to overtreatment by hydrocortisone therapy and to advanced epiphyseal closure linked to hyperandrogenism by Hydrocortisone therapeutic insufficiency.Objective and hypotheses: To evaluate the efficacy and safety of the addition of an androgen receptor competitor and an aromatase inhibitor to reduced hydrocortisone doses.Method...

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hrp0086p2-p50 | Adrenal P2 | ESPE2016

Ovarian Cysts in a 46,XX Patient with Congenital Lipoid Adrenal Hyperplasia and with Spontaneous Puberty

Kopylova Irina , Orlova Elizaveta , Yarovaya Irina , Kareva Maria , Peterkova Valentina

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

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hrp0086p2-p51 | Adrenal P2 | ESPE2016

Bone Health Index in Children and Adolescents with Congenital Adrenal Hyperplasia

Alsaffar Hussain , Davies Rosie , Reed John , Das Urmi , Senniappan Senthil , Didi Mohammed , Blair Jo

Introduction: Patients with congenital adrenal hyperplasia (CAH) require life long glucocorticoid (GC) therapy. In CAH, the adverse effect of GC on bone health (BH) may be counteracted by the effect of modest elevations in adrenal androgens.Aim: To examine relationships between BH index (BHI) SDS, calculated by BoneXpert on bone age (BA) x-rays, BA, hydrocortisone (HC) dose (mg/m2 per day), and mean 17-hydroxyprogesterone (17-OHP) concentratio...

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hrp0086p2-p52 | Adrenal P2 | ESPE2016

Occasional Detection of an Adrenal Incidentaloma in a Female Adolescent Evaluated for Cardiac Arrhythmias

Kotanidou Eleni , Kyrgios Ioannis , Mouzaki Konstantina , Kleisarchaki Angeliki , Koliatos Panagiotis , Galli-Tsinopoulou Assimina

Background: Adrenal incidentalomas(AIs) are adrenal masses discovered occasionally by radiological evaluation in the absence of clinical features of adrenal disease. Clinical evaluation is important in patients with AIs. AIs are bilateral (1015%); manifest as nonfunctioning cortical adenomas (7080%), pheochromocytomas (1.111%), subclinical Cushing syndrome (520%), primary aldosteronism (12%), primary adrenocortical carcinomas (<5%) and metasta...

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hrp0086p2-p53 | Adrenal P2 | ESPE2016

Final Height in Congenital Adrenal Hyperplasia: A Retrospective Study

Martins Mariana , Reis-Melo Ana , Espada Filipa , Fonseca Marcelo

Background: A compromised final height (FH) is a concern in patients diagnosed with congenital adrenal hyperplasia (CAH). The lack of achievement of the genetic target height (TH) can be attributed to treatment with high doses of corticosteroids and high levels of adrenal androgens. Despite the emergence of new therapeutic modalities such as the use of anti-androgens and growth hormone it has been shown that a favorable FH can be achieved with careful use of corticosteroids.</...

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hrp0086p2-p54 | Adrenal P2 | ESPE2016

Hyperandrogenism in a 12-year Old Girl with a Congenital Porto-Systemic Shunt and Congenital Hepatic Fibrosis

Danko Mikolaj , Kot Karolina , Szalecki Mieczysław , Moszczynska Elzbieta , Malinowska Anna

Background: Hyperandrogenism in children is associated with excessive adrenal or gonadal androgens secretion. The most common causes of androgens hypersecretion are PCOS, adrenal tumors, Cushings syndrome, CAH, and gonadal virilizing tumors. Within the last 15 years single case-reports of hyperandrogenism in female patients with congenital porto-systemic shunts were described in literature. The mechanism of such coincidence is unknown but the role of hyperinsulinism, imp...

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hrp0086p2-p55 | Adrenal P2 | ESPE2016

The Treatment of a Functional Adrenocortical Cancer with Mitotane

Kurtoglu Selim , Hatipoglu Nihal , Gul Ulku , Tatlı Zeynep Uzan , Akın Leyla , Kendirci Mustafa

Introduction: In the pediatric age group, the incidence of the adrenocortical cancer (ACC) is 0.2%. The effective treatment is surgical resection. The only medical option is mitotane but it has negative effects on steroidogenesis. The difficulty in the management of mitotane therapy is discussed in this case.Case report: An 1110/12 years-old boy was referred with A 5 cm diameter solid-hypoecoic mass observed by sonography in the left surrenal ...

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hrp0086p2-p56 | Adrenal P2 | ESPE2016

The Effect of Anti-TNF on the Metabolism of Adrenal Hormones; A Steroid Metabolomic Approach

Keinan Ariel , Hartmann Michaela F. , Butbul Yonatan , Wudy Stefan A. , Tiosano Dov

Background: Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease seen in children. The systemic features of JIA are mediated by cytokine products of an activated immune system. Recent studies showed that the median level of urine cortisol in active JIA patients is significantly lower than remission period and control groups.Objective and hypotheses: One of the najor drugs in JIA is TNFα blocker (Enbrel). The aim of the study was ...

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hrp0086p2-p57 | Adrenal P2 | ESPE2016

False-Positive Increases of Steroid Hormone Precursors Mimicking 11β-Hydroxylase-Deficiency in a Preterm Infant

Welters Alena , Roschinger Wulf , Franzel Julia , Sabir Hemmen , Mayatepek Ertan , Meissner Thomas , Kummer Sebastian

Background: In premature and small-for-date infants, immature adrenal enzyme activity, adrenal stress responses and impaired hepatic clearance may lead to mild to moderate false-positive increases of steroid hormone precursors. This complicates screening programs for congenital adrenal hyperplasia (CAH) in these patients.Objective and hypotheses: We present a preterm female infant (born at 33 weeks of gestation) whos newborn screening 55 h after bi...

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hrp0086p2-p58 | Adrenal P2 | ESPE2016

Isthmic Spondylolisthesis in a Pre-pubertal Boy with Congenital Adrenal Hyperplasia During Aromatase Inhibitor Treatment

Fajardo Nadya Jaimes , Clemente Maria , Fontecha Garcia , Yeste Diego , Campos Ariadna

Background: The aim of therapy in patients with congenital adrenal hyperplasia (CAH) is to use glucocorticoid doses as low as possible to achieve adrenal suppression. Both chronically increased androgen secretion and increased glucocorticoid exposure may adversely affect adult height and in some patients this therapeutic balance is difficult to achieve. In these particular cases aromatase inhibitors (AI) could be indicated with de aim to reduce glucocorticoid doses avoiding th...

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hrp0086p2-p59 | Adrenal P2 | ESPE2016

Hospitalisation in Children with Adrenal Insufficiency and Hypopituitarism: Is there a Differential Burden Between Boys and Girls and Between Age Groups?

Rushworth R. Louise , Chrisp Georgina , Falhammar Henrik , Torpy David

Background: There is a paucity of information on the utilisation of hospital services by children and adolescents with adrenal insufficiency (AI) and hypopituitarism.Objective and hypotheses: To determine the number of episodes of hospitalisation in children with adrenal insufficiency (AI) and hypopituitarism in Australia, and to analyse trends in these admissions.Method: An analysis of all admissions to Australian hospitals in pat...

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hrp0086p2-p60 | Adrenal P2 | ESPE2016

A Case of Cushing’s Syndrome Due to Adrenocortical Adenoma with Pubarche and Obesity

Gurbuz Fatih , Cayir Atilla , Karakus Esra , Demir Rabia , Demirel Fatma , Senel Emrah

Background: Adrenocortical tumors in childhood represent very rare about 0.2% of all pediatric malignancies. Cushings syndrome (CS) is characterized by clinical features caused by autonomous excessive glucocorticoid production from adrenal cortex. In ACTH-independent CS, the most common cause is unilateral cortisol-producing adrenocortical adenoma.Objective and hypotheses: Fifteen months old girl was admitted with gradually gain weight, pubarche, a...

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hrp0086p2-p61 | Adrenal P2 | ESPE2016

Severe Neonatal Cushing Syndrome with Multi-Organ McCune Albright Manifestations

Sophie Lambert Anne , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

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hrp0086p2-p62 | Adrenal P2 | ESPE2016

Final Height Data in a Cohort of Patients with Congenital Adrenal Hyperplasia Treated with Tailored Doses of Hydrocortisone

Shir Wey Pang Gloria , Rumsby Gill , Hindmarsh Peter C , Dattani Mehul T

Background: Patients with congenital adrenal hyperplasia (CAH) are glucocorticoid deficient and require cortisol replacement to maintain homeostasis and prevent adrenal crises. Hydrocortisone dosing needs to be individualized because of variable cortisol clearance rates. Patients are thus prone to be either over or undertreated, both of which compromises final height.Objective and hypotheses: Performing 24-h cortisol profiling serially may allow for more...

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hrp0086p2-p63 | Adrenal P2 | ESPE2016

The Evolution of Bone Age in Girls with Premature Adrenarche

Marakaki Chrysanthi , Theodoropoulou Sophia , Papadimitriou Dimitrios T , Dermitzaki Eleni , Papadimitriou Anastasios

Background: In premature adrenarche (PA) children bone age (BA) may be greater than chronological age (CA), however final height is usually within target height (TH).Objective and hypotheses: Aim of the study was to evaluate the evolution of BA in girls with PA.Method: We studied retrospectively the files of 60 girls with PA followed in our unit. Anthropometric data and Tanner pubertal status were determined in each visit and BA wa...

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hrp0086p2-p64 | Adrenal P2 | ESPE2016

Cushing Syndrome Due to Adrenal Adenoma in an Adolescent Patient and Successful Treatment with Laparoscopic Surgery

Hacihamdioglu Bulent , Ozgurhan Gamze , Guney Asuman , Haluk Guvenc Bekir

Cushing syndrome (CS) is a rare disease in children associated with weight gain and stunting of their linear growth. In older children, pituitary adenomas are a more common cause of CS. The clinical presentation of CS varies in children such as truncal obesity, striae, facial plethora, hypertension, and PKOS-like (polycystic ovary syndrome) feature. Here in we report an adolescent presented with obesity, short stature and late puberty but without metabolic syndrome or hirsutis...

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hrp0086p2-p65 | Adrenal P2 | ESPE2016

A Novel Mutation of DAX-1 (NR0B1) in a Boy with X-linked Adrenal Hypoplasia Congenita

Gerster Karine , Katschnig Claudia , Wyss Sascha , Kolly Anne , Biason-Lauber Anna , Konrad Daniel

Background: DAX-1 (NR0B1) plays a key role in adrenal and reproductive development. It interacts with other nuclear receptors; however, its exact biological role remains unclear. In men most patients with X-linked adrenal hypoplasia congenita (AHC) present with acute adrenal failure. To date DAX-1 mutations have been found in more than 100 families or patients with X-linked AHC.Results: We report the case of a 2.5-year-old boy who presented with a histor...

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hrp0086p2-p66 | Adrenal P2 | ESPE2016

Clinical-Laboratory Findings of the Cases with Premature Pubarche and the Value of Acth Stimulation Test in the Differential Siagnosis

Dilek Emine , Tutunculer Filiz , Bezen Digdem , Sut Necdet

Background: Premature pubarche is a diagnosis of exclusion, and it is a benign period. Non-classic congenital adrenal hyperplasia (NC-CAH) is one of the most important causes in the differential diagnosis of premature pubarche.Objective and hypotheses: In this study it was aimed to evaluate the clinical and laboratory data, of 75 cases (five male, 70 female) diagnosed as premature pubarche. Additionally basal 17-hydroxyprogesterone levels determined as N...

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hrp0086p2-p67 | Adrenal P2 | ESPE2016

Successful Medical Management of Severe Neonatal Cushing Syndrome with Metyrapone, Guided by Mass Spectrometry Monitoring

Poidvin Amelie , Storey Caroline , Martinerie Laetitia , Braun Karine , Lahlou Najiba , Leger Juliane , Carel Jean-Claude

Background: Neonatal Cushing syndrome is a rare and severe condition, mostly associated with the McCune-Albright (MCA) syndrome. Management options include medical treatment (with ketoconazole or metyrapone resulting in 11-beta-hydroxylase blockade) and radical treatment with bilateral adrenalectomy. Spontaneous regression in late infancy has been reported.Objective and hypotheses: To report on the outcome of a 14 month-old girl with severe neonatal Cush...

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hrp0086p2-p68 | Adrenal P2 | ESPE2016

Family Character Isolated Pheochromocytoma by Mutation in Vhl gen

Freijo Martin Concepcion , Laura Bertholt Zuber Maria , De la Rubia Fernandez Luis , Naranjo Gonzalez Cristina

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

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hrp0086p2-p69 | Adrenal P2 | ESPE2016

Exaggerated Adrenarche and Exogenous Obesity: A Diagnostic Challenge

Ferreira Marianna , Semmer Beatriz , Queiroz Edjane , Brigatti Nathalia , Pinheiro Claudia , Athayde Debora , Steinmetz Leandra , Cominato Louise , Menezes Filho Hamilton , Kupperman Hilton , Setian Nuvarte , Damiani Durval

Background: The exaggerated adrenarche is an extreme variant of the maturation of the adrenal cortex, often associated with hyperinsulinemia and obesity. Hyperandrogenism by congenital adrenal hyperplasia (CAH) and adrenal neoplasms are differential diagnoses.Case report: Male, 8 years and 3 months, who came from another service with diagnosis of Precocious Puberty and Obesity, already being treated with Leuprolide acetate for 1 year and half. His compla...

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hrp0086p2-p70 | Adrenal P2 | ESPE2016

Vitamin D Insufficiency is Related to Premature Adrenarche

Akin Onur , Doğer Esra , Bideci Aysun , Akbaş Emine Demet , Uğurlu Aylin Kılınc , Yavuz Suleyman Tolga , Elbeğ Şehri , Camurdan Orhun , Cinaz Peyami

Background: Vitamin D, mainly important in calcium phosphate homeostasis and bone health, has been recently suggested as an important factor in pathogenesis of numerous chronic conditions such as type 2 diabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS).Objective and hypotheses: The aim of this study is to investigate the relation between PCOS and premature adrenarche (PA), suggested as predictor of PCOS.Method: A ...

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hrp0086p2-p71 | Adrenal P2 | ESPE2016

A Case of 17-Years-Old Boy with Relapsing Cushing Disease Presenting Vertebral Compression Fracture

Kim Yoo-Mi , Song Ji-yeon , Cheon Chong-Kun , Kim Su Yung

Background: Cushing disease defined as hypercortisolism due to pituitary adrenocorticotrophic hormone (ACTH) secreting adenoma is a very rare disease, especially in childhood and adolescence. The purpose of this report is to follow up Cushing disease patient who presented with osteoporosis, rapid weight gain, decreased growth rate, and relapsing pituitary adenoma after transsphenoidal adenomectomy (TSA).Case: A 17-years-old boy visited our hospital for e...

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hrp0086p2-p72 | Adrenal P2 | ESPE2016

The ımpact of 21 Hydroxylase Deficiency on Cardiac Repolarization Changes in Children with 21-hydroxylase-deficient Congenital Adrenal Hyperplasia

Korkmaz Huseyin Anıl , Ozdemir Rahmi , Kucuk Mehmet , Karadeniz Cem , Meşe Timur , Ozkan Behzat

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

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hrp0086p2-p73 | Adrenal P2 | ESPE2016

Patients with Congenital Adrenal Hyperplasia have Significantly Higher Healthcare Utilisation than the General Paediatric Population

Jenkins-Jones Sara , Holden Sarah , Morgan Christopher , Currie Craig , Whitaker Martin , Ross Richard , Withe Mike , Porter John

Background: Congenital adrenal hyperplasia (CAH) is a rare disorder of steroid synthesis. Patients have multiple health problems. Healthcare utilisation has not previously been assessed in the paediatric population with CAH.Objective and hypotheses: To assess healthcare resource use in patients in England with CAH.Method: The English Clinical Practice Research Datalink (CPRD) database is an observational and interventional research...

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hrp0086p2-p74 | Adrenal P2 | ESPE2016

Cholestasis and Hypercalcemia Secondary to Panhypopituitarism in a Newborn

Dursun Fatma , Gerenli Nelgin , Kirmizibekmez Heves

Cholestatic hepatitis and hypercalcemia are rare features of hypopituitarism in the newborn. So diagnosis of hypopituitarism is frequently delayed. Herein, we report a newborn that was investigated for cortisol deficiency and other pituitary hormone deficiencies and diagnosed with panhypopituitarism upon detection of cholestasis after referral to the endocrinology department for hypercalcemia, a very rare sign of cortisol deficiency. It is unclear which hormone causes cholesta...

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hrp0086p2-p75 | Adrenal P2 | ESPE2016

Clinical Management in Secondary Pseudohypoaldosteronısm: A Case Series

Korkut Sabriye , Akin Leyla , Hatipoglu Nihal , Gunduz Zubeyde , Dursun Ismail , Ozdemir Ahmet , Kurtoglu Selim

Background: Secondary PHA is a transient aldosterone resistance condition mostly occurring in relation with urinary system infection and/or malformations. Secondary PHA cases and very few case series have been reported in the literature. In this article, we reported a case series of eight patients including different clinic presentations which have not as yet been reported in the literatüre and their long-term follow-ups.Method: Patients who have se...

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hrp0086p2-p76 | Adrenal P2 | ESPE2016

High Sensitivity C-Reactive Protein (hsCRP) Levels as Predictor of Salivary Cortisol Acute Response to Mental Stress and/or Mobile Phone Call in Healthy Adolescents

Geronikolou Styliani , Vasdekis Vassilis , Cokkinos Dennis , Chrousos George , Kanaka-Gantenbein Christina

Background: The hypothalamicpituitaryadrenal (HPA) axis responds to several acute or chronic environmental stessors, including those of social stress.Objective and hypotheses: To assess the HPA axis acute response during mental stress and mobile phone call exposure in healthy adolescents through salivary cortisol measurements and to investigate the modulatory effect of baseline biochemical or low-inflammation markers during this response....

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hrp0086p2-p77 | Adrenal P2 | ESPE2016

Management Dilemmas in a Genetically Female Child with Congenital Adrenal Hyperplasia Raised as a Male

Seneviratne Sumudu , Samarasinghe Malik , de Silva KSH

Background: Conventionally, 46 XX infants with congenital adrenal hyperplasia (CAH) were reared as females, even if considerably virilised at birth. However, lately there has been some debate on this stance, and male gender of rearing is also being considered.Objective and hypotheses: We report on a 9 year old genetically female child (N) with salt wasting CAH reared as a male, with precocious female puberty, currently suppressed with GnRH analogs, and d...

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hrp0086p2-p78 | Adrenal P2 | ESPE2016

Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Justifying a Pediatric Case of ACTH-independent Cushing Syndrome (CS)

Capelo Liana , Vieira Stefania , Apolinario Elisa Cordeiro , Kopacek Cristiane

Background: CS is characterized by excess glucocorticoid excess, either endogenous or exogenous. In children younger than 7 years, the adrenal origin is the most common cause. From this age until adulthood predominates Cushings disease (central cause). We can divide CS in ACTH-dependent and independent according to laboratory findings. When ACTH-independent, etiologies are related to benign or malignant diseases of the adrenal or McCune Albright syndrome.<p class="ab...

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hrp0086p2-p79 | Adrenal P2 | ESPE2016

Three Chinese Patients from Two Kindreds with Aldosterone Synthase Deficiency: Clinical Characteristic with Mutation Analysis Report

Li Shaofu , Ma Huamei , Zhang Jun , Du Minlian , Li Yanhong , Chen Qiuli , Chen Hongshan , Guo Song

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disease caused by inactivating mutation in the CYP11B2 gene, usually presenting with severe salt-wasting in infancy or stress-induced hyperkalaemia and postural hypotension in adulthood. ASD is unable to be detected by Neonatal screening of 17-hydroxyprogesterone, hence patients would not be diagnosed until they suffer from salt-wasting crisis. Due to this potentially life-threatening risk, early detection and...

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hrp0086p2-p80 | Adrenal P2 | ESPE2016

Addisonian Crisis Due to Autoimmune Adrenalitis in a 14 Year Old Boy with a History of Stem cell Transplantation (HSCT)

Penger Theresa , Albrecht Andrea , Marx Michaela , Voelkl Thomas , Stachel Daniel , Metzler Markus , Doerr Helmuth G.

Background: Various endocrine complications are common after HSCT but primary adrenal insufficiency (Addisons disease, AD) is absolutely rare. To the best of our knowledge, there is only one case of AD reported in a 9-year-old girl after HSCT and busulfan and cyclophosaphamide-based conditioning for myelodysplastic syndrome.Objective: We report on a 14-year-old boy from Albania who developed an Addisonian crisis 12.7 years after HSCT.<p class="...

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hrp0086p2-p81 | Adrenal P2 | ESPE2016

Assessment of Cardiac Function in Children Followed up for Congenital Adrenal Hyperplasia: A Case Control Study in Cameroon

Tony Nengom Jocelyn , Sap Ngo Um Suzanne , Chelo David , Carole Mbono Betoko Ritha , Olivier Koki Ndombo Paul

Background: Diagnosis of congenital adrenal hyperplasia (CAH) is delayed in developing countries and children are long exposed to high levels of androgens. These androgens have deleterious effect on heart.Objective and hypotheses: Evaluate cardiac function of children followed for CAH and compared it to a group of healthy children.Method: We carried out a case-control study, 1 case for 2 controls matched for age and genotypic sex, ...

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hrp0086p2-p82 | Adrenal P2 | ESPE2016

A Novel Mutation of HSD3beta2 Presenting as Hypospadias with Salt-wasting in a Male Infant

Buchanan C.R. , Kalitsi J. , Ghataore L. , Taylor N.F. , Clifford-Mobley O. , Rumsby G. , Kapoor R.R.

Background: HSD3B2 is a rare cause of autosomal recessive primary adrenal insufficiency, potentially associated with under virilisation of XY males and virilisation of XX females. We present a case of a male infant presenting at term with ambiguous genitalia (DSD) with underlying diagnosis confirmed biochemically and genetically with a novel mutation of HSD3beta2.Objective: Case report.Patients and methods: Baby was born as FTND wi...

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hrp0086p2-p83 | Adrenal P2 | ESPE2016

Testicular Adrenal Rest Tumors in two Young Patients with Congenital Adrenal Hyperplasia

Daniela Belceanu Alina , Bursuc Anamaria , Armasu Ioana , Constantinescu Georgiana , Crumpei Felicia , Matasariu Roxana , Christina Ungureanu Maria , Mogos Voichita , Vulpoi Carmen

Background: Testicular adrenal rest tumours (TART) may develop in males with congenital adrenal hyperplasia (CAH), with a widely variable prevalence. Having no malignant features, there seems to be no need to remove them. However, these lesions may increase in size and number when exogenous hormone therapy is inadequate. Untreated, may lead to infertility and irreversible damage of the surrounding testicular tissue.Case report: We present two cases, diag...

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hrp0086p2-p84 | Adrenal P2 | ESPE2016

Hyperreninemic Hypoaldosteronism: Clinical and Genetic Features in Pediatric Patients

Capirchio Laura , Seminara Salvatore , Scalini Perla , de Martino Maurizio , Stagi Stefano

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...

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hrp0086p2-p85 | Adrenal P2 | ESPE2016

Peculiarities of Manifestation and Short-term Effects of Hormonotherapy in Children With Congenital Adrenal Cortical Hyperplasia

Meraai Galina , Simanchyk Maryia , Karaha Viktoryia , Solntsava Anzhalika

Objective and hypotheses: To establish clinical, laboratory peculiarities of manifestation, short-term effects of performance of hormonotherapy children with CACH.Method: We examined 32 children with CACH (29 children with salt-losing form (SLF) (boys/girls=18/11), 3 virile form (VF) (boy/girls=1/2)) in onset and after 1 year of therapy. Weight and growth dynamics, parameters of potassium (K), sodium (Na), glucose, adrenocorticotropic hormo...

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hrp0086p2-p86 | Adrenal P2 | ESPE2016

Congenital Adrenal Hyperplasia Revealed by Adrenal Nodules

El Mahdi Haddam Ali , Soumeya Fedala Nora , Meskine Djamila

Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 Ohase deficiency in 9095% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis i...

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hrp0086p2-p87 | Adrenal P2 | ESPE2016

Urosepsis or Pseudohypoaldosteronism in a Neonate?

Gruber Noah , Lahav Einat , Kassif-Lerner Reut , Pinhas-Hamiel Orit

Background: Pseudohypoaldosteronism (PHPA1) is a disorder of impaired renal electrolytes re-absorption and excretion. Primary PHPA1 has two clinically and genetically distinct forms: (i) Renal autosomal dominant form, which involves a mutation in the mineralocorticoid receptor; (ii) Systemic autosomal recessive form, which involves a mutation in the epithelial sodium channel. PHPA1 can be also transient secondary to urinary tract infections (UTI)/malformations.<p class="ab...

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hrp0086p2-p88 | Adrenal P2 | ESPE2016

A Case Report of Adrenocortical Adenoma in a Young Girl

Tran Thi Bich Huyen , Huynh Thoai Loan

Adrenocortical tumors are rare childhood neoplasms. More than 95% are functional and present with virilization, Cushings syndrome, hypertension, or hyperestrogenism. We present a exceptionally rare case of a patient with androgen- and cortisol-co-secreting adrenal adenoma. A 4-year-old girl was referred to us for appearance of symptoms of virilization: moustache, pubic hair, and gradual enlargement of clitoris for 1 year. Her voice gardually deepened and changed to male ...

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hrp0086p2-p89 | Adrenal P2 | ESPE2016

Abstract unavailable....

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hrp0086p2-p90 | Adrenal P2 | ESPE2016

A Genetic Diagnosis of Familial Glucocorticoid Deficiency Resulting in Cessation of Long-term Mineralocorticoid Treatment in Three Siblings

Cottrell Emily , Mushtaq Talat

Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by ACTH resistance and leads to isolated glucocorticoid deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) are responsible for around 25% of cases.Case report: The female index case was hyperpigmented at birth. At one week of age her ACTH level was >1200 ng/ml, plasma renin activity (PRA) 11.4 pmol/ml/h with an aldosterone of 520...

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hrp0086p2-p91 | Adrenal P2 | ESPE2016

Corticosteroid-Induced Adrenal Insufficiency in a Child with T Cell Lymphoblastic Lymphoma

Lee Sang Hyun , Son Kyung Lae , Sim Yeji , Kim Heung Sik

Background: Glucocorticoids play a major role in the treatment of lymphoblastic lymphoma. However, supraphysiological glucocorticoid therapy may cause the secondary adrenal insufficiency.Presentation of case: A 11-year-old boy with T cell lymphoblastic lymphoma, treated according to COG A5971 protocol, experienced sudden onset of tremor and general weakness in the first day after tapering 28 days of glucocorticoid therapy. He had a moon face and pigmenta...

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hrp0086p2-p92 | Adrenal P2 | ESPE2016

A Rare Endocrine Association of Dilated Cardiomyopathy with Congenital Adrenal Hyperplasia due to 11 Beta Hydroxylase Deficiency

Patil Prashant , Jahagirdar Rahul , Khadilkar Vaman , Seniappan Senthil

Background: Cardiomyopathy is a heterogeneous group of disorder of myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilatationleading to heart failure. Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is rare inherited disorder of cortisol biosynthesis, due to genetic defects of CYP11B1 gene presenting as hypertension, features of androgen excess, and peripheral precocio...

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hrp0086p2-p93 | Adrenal P2 | ESPE2016

Use of an F-DEX Monocyte Binding Assay to Measure Steroid Responsiveness of Patients and their Related Donors Undergoing Stem Cell Transplant

Gillio Alfred , Krajewski Jennifer , Donato Michele , Rowley Scott , Aisenberg Javier , Ghanny Steven

Background: Graft versus host disease (GVHD) is a complex disease resulting from donor T-cell recognition of a genetic disparate recipient, which is unable to reject donor cells after allogeneic transplant. Glucocorticoids (steroids) are the mainstay of acute GVHD therapy. Glucocorticoid resistance has been characterized in several inflammatory conditions including asthma, rheumatoid arthritis, systemic lupus, erythematosus, ulcerative colitis, and Crohns disease. Glucoc...

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hrp0086p2-p94 | Adrenal P2 | ESPE2016

11β- Hydroxylase Deficiency due to a Novel Compound Heterozygous Mutation and Literature Review

Wu Wei , Dong Guanping , Li Yun , Wang Jinling

Background: The incidence of 11β-hydroxylase deficiency is quite low in China, less is reported about the gene mutation in Chinese population.Objective and hypotheses: To analyze the clinical features and CYP11B1 gene mutations of a family with 11β-hydroxylase deficiency (11β-OHD) and literature review were also included.Method: Physical examination and laboratory tests were done on a 4 years old girl and gene mutati...

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hrp0086p2-p95 | Adrenal P2 | ESPE2016

Early Adrenarche: A Common Query but not Easily Resolved

Sarasua Ainhoa , Diez-Lopez Ignacio

Introduction: Early/advanced adrenarche is a frequent reason for consultation in Children Endocrinology.Objectives: To evaluate the number and characteristics of cases of early/advanced adrenarche referred for assessment to the Childrens Consultation Endocrinology in the period between January 2015 and December 2015.Results: In this period are rated 522 first consultations of which 39 (7%) have been prematurely adrenarche. In...

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hrp0086p2-p96 | Adrenal P2 | ESPE2016

Assessment of Clinical Effectiveness and Safety of Using Flutamide in Children with Pre-menarche Hierperandrogenismo

Diez-Lopez Ignacio , Sarasua Ainhoa , Lorente Isabel

Today we have an increase in patients with early-ahead forecast pubarche with impaired bone carving for advancement but organicidad criteria (HSC) but if dysfunction or adrenal hyperandrogenism and/or ovarian There are several anti-androgen drugs, all without usual pediatric use (use of label). Low-dose flutamide 62.5 mgr/day has been postulated as a treatment in these cases, but its use is restricted due to the risk of side effects (gynecomastia and liver involvem...

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hrp0086p2-p97 | Adrenal P2 | ESPE2016

Congenital Adrenal Hyperplasia – Subtle Presentations with Critical Electrolyte Imbalances and Cardiac Arrhythmias. Experiences from one Hospital

Ponmani Caroline , Fortune Carlie , Springham Kay , Wenn Cathy

Background: Congenital adrenal hyperplasia (CAH) can present with salt loss, hyperkalemia and arrhythmias in the neonatal period. If CAH is not diagnosed and treated early, neonates are susceptible to sudden death in the first few weeks of life. This problem is particularly critical in boys who have no genital ambiguity to alert physicians before the onset of dehydration and shock.Objective and hypotheses: We recommend that a diagnosis of CAH be consider...

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ESPE Abstracts

55th Annual ESPE

BiosciAbstracts