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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

hrp0084p1-144 | Miscelleaneous | ESPE2015

Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

Guran Tulay , Buonocore Federica , Saka Nurcin , Ozbek Mehmet Nuri , Aycan Zehra , Bereket Abdullah , Bas Firdevs , Darcan Sukran , Bideci Aysun , Turan Serap , Guven Ayla , Tarim Omer , Agladioglu Sebahat Yilmaz , Atay Zeynep , Ozen Samim , Demir Korcan , Akinci Aysehan , Aydin Banu Kucukemre , Buyukinan Muammer , Yuksel Bilgin , Yildiz Metin , Akcay Teoman , Kara Cengiz , Ozgen Tolga , Catli Gonul , Isik Emregul , Bolu Semih , Ozhan Bayram , Gurbuz Fatih , Ucar Ahmet , Demirbilek Huseyin , Abali Zehra Yavas , Doger Esra , Eren Erdal , Berberoglu Merih , Hacihamdioglu Bulent , Achermann John C.

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

hrp0084p1-145 | Miscelleaneous | ESPE2015

Clinical Follow-up of the First SF-1 Deficient Female Patient

Gerster Karine , Biason-Lauber Anna , Schoenle Eugen J

Background: Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism. In men (46, XY) mutations in SF-1/NR5A1 gene cause a wide phenotypic spectrum that ranges from complete testicular dysgenesis with Müllerian structures and amenorrhea, through individuals with mild clitoromegaly or genital ambiguity, to severe penoscrotal h...

hrp0084p1-146 | Miscelleaneous | ESPE2015

Salt Sensitivity of Blood Pressure at Age 7–8 Years in Preterm Born Children

Ruys Charlotte A , Lafeber Harrie N , Rotteveel Joost , Finken Martijn J J

Background: Preterm birth is associated with hypertension and increased fat contents in later life. Salt sensitivity (SS) could be a mechanism underlying this relationship. In adults SS has been recognised as a cause of hypertension that is related to low birth weight and obesity.Objective and hypotheses: We studied the prevalence of SS in 7–8-year old children born <32 weeks of gestation and/or with a birth weight <1500 g as well as its rel...

hrp0084p1-147 | Miscelleaneous | ESPE2015

A New LC-MS/MS Assay for the Analysis of Sulfated Steroids in Human Serum: Quantification of Cholesterol Sulfate, Pregnenolone Sulfate, 17-Hydroxypregnenolone Sulfate and Androgen Sulfates

Sanchez-Guijo Alberto , Oji Vinzenz , Hartmann Michaela F , Traupe Heiko , Wudy Stefan A

Background: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

hrp0084p1-148 | Miscelleaneous | ESPE2015

The Analysis of Occurrence the Zinc Transporter Antibodies ZnT8 in Children with Graves’ Disease and Hashimoto’s Thyroiditis

Bossowski Artur , Borysewicz-Sanczyk Hanna , Bossowska Anna , Szalecki Mieczyslaw , Kucharska Anna , Pyrzak Beata , Walczak Mieczyslaw , Petriczko Elzbieta , Ziora Katarzyna , Del Pilar Larosa Maria , Chen Shu , Powell Michael , Furmaniak Jadwiga , Smith Bernard Rees

Introduction: Recent studies have revealed the presence of zinc and the expression of zinc transporter (ZnT) family members in most endocrine cell types. Moreover it was demonstrated that the ZnT family plays an important role in the synthesis and secretion of many hormones like insulin. We studied the prevalence of ZnT8 Ab in patients with autoimmune thyroid diseases (AITD).Material and methods: The study was performed in the group consisting of 20 Grav...

hrp0084p1-149 | Miscelleaneous | ESPE2015

Recombinant Parathyroid Hormone (1-34) Replacement Treatment of Hypoparathyroidism in the Alfacalcidol-Resistant Patient with Severe Autoimmune Polyendocrinopathy Syndrome Type 1

Sozaeva Leila , Orlova Elizaveta , Kareva Maria

Background: Hypoparathyroidism (HPT) is present in 80% of patients with Autoimmune Polyendocrinopathy Syndrome type 1 (APS-1) – rare monogenic complex disease characterized also by adrenal failure, chronic candidiasis and a spectrum of other autoimmune disorders, including enteropathy and malabsorbtion. Active vitamin D and calcium are currently used for HPT treatment to maintain normal serum calcium levels.Objective and hypotheses: To describe a se...

hrp0084p1-150 | Miscelleaneous | ESPE2015

Severe Immunodysregulation Phenotypes Including Infancy-Onset Type 1 Diabetes Mellitus in Two Siblings with a Homozygous Mutation in the LPS-Responsive Beige-Like Anchor (LRBA) Gene

Schreiner Felix , Plamper Michaela , Duker Gesche , Schoenberger Stefan , Altmueller Janine , Hilger Alina , Reutter Heiko , Woelfle Joachim

Background: Type 1 diabetes mellitus (T1DM) is caused by autoimmunity against the pancreatic beta-cell. Although a significant number of T1DM patients develop further autoimmune disorders during lifetime, coexisting severe immunodysregulation is rare.Objective and hypotheses: Presuming autosomal-recessive inheritance in a complex immunodysregulation disorder including T1DM in two siblings born to consanguineous parents, we performed whole exome sequencin...

hrp0084p1-151 | Miscelleaneous | ESPE2015

A Case of Autoimmune Polyglandular Syndrome Type I Presenting as Progressive Generalised Lipodystrophy in a 15-month-old Child

Sorkina Ekaterina , Frolova Elena , Rusinova Dina , Polyakova Svetlana , Vasilyev Evgeny , Petrov Vasily , Tiulpakov Anatoly

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.Objective: To describe an unusual clinical manifestation of APS1.Methods: Congenital lipodystrophy ...

hrp0084p1-152 | Miscelleaneous | ESPE2015

Noonan Syndrome-Causing SHP2 Mutants Inhibit Murine Growth Plate Chondrogenesis and Bone Development: Role of Ras/MAPK Hyperactivation

Yart Armelle , Tajan Mylene , Capilla Florence , Beton Nicolas , Davignon Jean-Luc , Tauber Maithe , Salles Jean-Pierre , Edouard Thomas

Background: Growth retardation affects more than 80% of patients with Noonan syndrome (NS; MIM#163950), one of the most common developmental disorders, but its origin remains poorly understood. We have demonstrated that mutations of the tyrosine phosphatase SHP2, that are responsible for half the cases of NS, impair the systemic production of Insulin-like growth factor 1 (IGF1), the biological mediator of GH acting on growth plate, through a hyperactivation of the Ras/Mitogen-...

hrp0084p1-153 | Miscelleaneous | ESPE2015

Growth Curves for Height, Weight, BMI and Head Circumference in Children with Achondroplasia

Dogan Murat , Aydin Ilyas , Bala Keziban Asli , Kaba Sultan , Gulpunar Ozlem

Background: Close monitoring of growth is vital when following children with achondroplasia yet existing growth curves suffer from a simple chart format and their clinical use is therefore limited. Also, references for body proportions; i.e. sitting height, relative sitting height and arm span, are lacking.Objective and hypotheses: The aim of this study was to construct age-specific growth curves for height, weight, BMI, head circumference and body propo...

hrp0084p1-154 | Miscelleaneous | ESPE2015

Novel Compound Heterozygous BMP1 Variants Associated with Osteogenesis Imperfecta

Yang Aram , Huh Rimm , Kim Jinsup , Cho Sung Yoon , Jin Dong-Kyu

Background: Osteogenesis imperfecta (OI) includes a group of disorders with a susceptibility to bone fractures, the presentation ranging from slightly increased fracture frequency to death in the perinatal period.Objective and hypotheses: Autosomal-dominant inheritance with type I collagen biosynthesis defects is the most common, but many autosomal-recessive genes have been previously reported.Method: Whole-exome sequencing was per...

hrp0084p1-155 | Miscelleaneous | ESPE2015

Prospective Cognitive Assessment in Children with Craniopharyngioma Identifies Dysfunction at Diagnosis, After Conservative Surgery and Before Adjuvant Radiation

Rodriguez-Cabrera Penelope , Kuczynski Adam , Michaelidou Maria , Losa Laura , Spoudeas Helen

Background: It has been previously reported that with current management, 9/10 children with craniopharyngioma will survive 10 years. Though most suffer both chronic neuroendocrine and cognitive impairments from disease and/or treatment, few prospective cognitive assessments have been reported which might separate the contributions of each.Objective and hypotheses: i) To prospectively evaluate the prevalence of cognitive dysfunction, before and after a c...

hrp0084p1-156 | Miscelleaneous | ESPE2015

Cushing Syndrome due to Adrenocortical Carcinoma in a 3-month-old Infant with a Large Interstitial Deletion of Chromosome 5q Including the APC Gene

Akkurt Halit Ilker , Schulz Esther , Reinshagen Konrad , Vater Inga , Caliebe Almuth , Johannsen Jessika

Background: Childhood adrenocortical tumours (ACT) are rare and have well been described as part of familial cancer susceptibility syndromes which are caused by single gene mutations including P53, MEN1, PRKAR1A, CTNNB1 and APC. Adenomas are the most common ACT, but adrenocortical carcinomas (ACC) occur as well. Childhood ACC can be part of the Li-Fraumeni Syndrome and Beckwith-Wiedemann syndrome. ACC can also occur in familial adenomatous polyposis coli (FAP). FAP is a colon ...

hrp0084p1-157 | Miscelleaneous | ESPE2015

How do Adolescent Minors Banking Sperm Before Cancer Therapy Subsequently use the Fertility Service? A Post Banking Re-Evaluation

Pigot James , Michaelidou Maria , Williamson Elizabeth , Webb Alison , Gan Hoong-Wei , Spoudeas Helen

Background: Gonadotoxic cancer therapy may cause adult male infertility. We previously reported that, of 2/3rds of underage males agreeing to pre-treatment sperm cryopreservation before cancer treatment, 2/3rds succeeded.Objective and hypotheses: i) To evaluate how many patients banking sperm successfully (GP1) returned for post treatment re-evaluation compared with those who attempted but failed (GP2). ii) To compare intergroup survival and fertility ra...

hrp0084p1-158 | Miscelleaneous | ESPE2015

The Expression of Related Neuroendocrine Factors with Puberty Onset in Rat at Different Developmental Stages

Jung Mo Kyung , Kim Ki Eun , Kwon Ah Reum , Wook Hyun Wook Hyun , Kim Duk Hee , Kim Ho-Seong

Introduction: Kisspeptin is well known gatekeeper of puberty onset to date. However, several neuroendocrine factors are also discovered to be associated with puberty onset and, especially neuropeptide Y (NPY) and neurokinin B, participate in the neuronal network integrating reproduction. However, the interactions between neuroendocrine factors and the reproductive axis have not yet been fully explored. We report herein the expression profile of NPY gene and neurokinin B gene i...

hrp0084p1-159 | Miscelleaneous | ESPE2015

FOXL2 Gene and Combined Pituitary Hormone Deficiency: A Possible Link

Castets Sarah , Saveanu Alexandru , Raybaud Christine , Mallet Delphine , Roucher Florence , Morel Yves , Brue Thierry , Reynaud Rachel , Nicolino Marc

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

hrp0084p1-161 | Miscelleaneous | ESPE2015

Screening of IGSF1 in Patients with Central Hypothyroidism and GH Deficiency, Participating in the Dutch HYPOPIT Study

Elizabeth Melitza , Peeters Robin , Visser Theo , Hokken-Koelega Anita , de Graaff Laura

Background: The Dutch HYPOthalamic and PITuitary gene (HYPOPIT) study investigates the genetic and non-genetic causes of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). Former projects within the HYPOPIT study showed that only a small minority of the Dutch IGHD and CPHD cases could be explained by mutations in GH1, GHRHR, HMGA2 and CDK6 in IGHD patients and PROP1, HESX1, POU1F1, LHX3</...

hrp0084p1-162 | Miscelleaneous | ESPE2015

Congenital Hypothyroidism: Reduction in the Female to Male Ratio Following the Decrease of the TSH Cut-off Point Used for Neonatal Screening

Voutetakis Antonis , Giogli Vassiliki , Platis Dimitris , Gika Anna , Iliadi Alexandra , Mengreli Chrysanthi , Chrousos George , Kanaka-Gantenbein Christina , Girginoudis Panagiotis

Background: Since the initiation of neonatal screening-programs for congenital hypothyroidism (CH) in the 1970’s, an increase in the incidence of CH has been observed. This change has been attributed to the gradual use of lower TSH cut-offs that lead to the detection of milder cases of CH. Based on currently used screening cut-offs, CH occurs in approximately 1:2 000 to 1:4 000 newborns, varying by geographic location and ethnicity. A female predominance, approaching a 2:...

hrp0084p1-163 | Miscelleaneous | ESPE2015

Paediatric Thyroid Nodule Score: Derivation and Validation of a Predictive Score for Thyroid Nodule Assessment in Children

van der Kaay Danielle , Wasserman Jonathan , Akseer Nadia , Roskies Michael , Liberte Frederique la , Nguyen Lily , Puligandla Pramod

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

hrp0084p1-164 | Miscelleaneous | ESPE2015

Practical Application of Elastography in the Diagnosis of Thyroid Nodules in Children

Borysewicz-Sanczyk Hanna , Sawicka Beata , Dzieciol Janusz , Drzewek Katarzyna , Oleksinska Magdalena , Noiszewska Klaudyna , Bossowski Artur

Background: Elastography is non-invasive ultrasound method of imaging based on estimation of mechanical properties (elasticity) of the tissue. Recent data has shown its ability to differentiate benign from malignant tumours. Decreased flexibility in comparison to around tissue is characteristic for malignant tissues, like most thyroid carcinoma (except follicular thyroid carcinoma). Analysis of the image gives the result presented as a ROI1/ROI2 index.Ob...

hrp0084p1-165 | Miscelleaneous | ESPE2015

Higher Urinary Iodine Levels Iodine Correlates with Lower Systolic Blood Pressure in Chilean Schoolchildren

Grob Francisca , Martinez-Aguayo Alejandro , Ateaga Maria Clara , Loureiro Carolina , Carrillo Diego , Hill Caroline , Campino Carmen , Mendoza Carolina , Ferrada Clarita , Bancalari Rodrigo , Pinochet Constanza , Carvajal Cristian , Aglony Marlene , Valdivia Carolina , Vecchiola Andrea , Carrasco Carmen , Baudrand Rene , Fuentes Cristobal , Garcia Hernan , Fardella Carlos

Background: Iodine concentrations in Chilean schoolchildren are the highest in South America. This may be related to excessive sodium intake, which is associated with hypertension. However, iodine decreases blood pressure (BP), which would be a cardiovascular protective factor.Objective and hypotheses: The objective of this study is to evaluate the effects of iodine on BP and cardiovascular risk factors, despite salt intake.Method:...