journal of pediatric endocrinology and metabolism

journal of pediatric endocrinology and metabolism

JOURNAL OF
PEDIATRIC
ENDOCRINOLOGY
AND METABOLISM
EDITOR-IN-CHIEF
Wieland Kiess, Leipzig
ASSOCIATE EDITORS
Feyza Darendeliler, Istanbul
Jan Gustafsson, Uppsala
Feihong Luo, Shanghai
Veronica Mericq, Santiago
ASSISTANT MANAGING EDITOR
Theresa Gorski, Leipzig
EDITORIAL BOARD
Tadej Battelino, Ljubljana
Atilla Buyukgebiz, Istanbul
Fernando Cassorla, Santiago de Chile
George Chrousos, Athens
Wayne Cutfield, Auckland
Hugo L. Fideleff, Buenos Aires
Eli Hershkovitz, Beersheba
Stephen LaFranchi, Portland, OR
Roberto Lanes, Caracas
Angelika Mohn, Chieti
Moshe Phillip, Tel-Aviv
Ron Rosenfeld, Portland, OR
Allen W. Root, Saint Petersburg, FL
Martin Wabitsch, Ulm
George Werther, Parkville
Zvi Zadik, Rehovot
Unauthenticated
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ABSTRACTED/INDEXED IN BIOSIS, CABS, Current Contents/Life Sciences, EMBASE/Excerpta Medica, Index Medicus, Research Alert and
Science Citation Index
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ISSN 0334-018X ∙ e-ISSN 2191-0251
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RESPONSIBLE EDITOR(S)
Prof. Dr. Wieland Kiess, MD, Professor of Pediatrics, Director and Chair, Hospital for Children and Adolescents, Department of Women and Child
Health, University Hospitals, University of Leipzig, Liebigstraße 20a, 04103 Leipzig, Germany, Tel.: +49 (0)341 972 60 00,
Fax: +49 (0)341 972 60 09, Email: [email protected]
JOURNAL MANAGER Ingrid Grünberg, De Gruyter, Genthiner Straße 13, 10785 Berlin, Germany,
Tel.: +49 (0)30 260 05 – 245, Fax: +49 (0)30 260 05 – 246, Email: [email protected]
RESPONSIBLE FOR ADVERTISEMENTS Heiko Schulze, De Gruyter, Genthiner Straße 13, 10785 Berlin, Germany. Tel.: +49 (0)30 260 05-358,
Fax: +49 (0)30 260 05-264, Email: [email protected]
© 2015 Walter de Gruyter GmbH, Berlin/Boston
TYPESETTING Compuscript Ltd., Shannon, Ireland
PRINTING Franz X. Stückle Druck und Verlag e.K., Ettenheim
Printed in Germany
Cover Illustration: medicalpicture/Friedhelm Achenbach
Unauthenticated
Download Date | 10/12/16 5:20 PM
Journal of Pediatric Endocrinology and Metabolism
2015 | Volume 28 | Issue 11/12
Contents
Highlight: Turner syndrome
Wieland Kiess, Melanie Penke, Theresa Gorski, Antje
Körner, Julia Hoppmann, Eva Müller, Julia Gesing and
Roland Pfaeffle
Turner syndrome – working together with patients and
their families
1199
Ganesh S. Jevalikar, Margaret Zacharin, Mary White,
Steven W. Yau, Winnie Li, Charlotte Ijspeert, Vincenzo C.
Russo, George A. Werther and Matthew A. Sabin
Turner syndrome patients with bicuspid aortic valves
and renal malformations exhibit abnormal expression of
X-linked inhibitor of apoptosis protein (XIAP)
1203
Maria Francesca Messina, Tommaso Aversa, Giuseppina
Salzano, Daria Costanzo, Concetta Sferlazzas, Silvestro
Mirabelli, Giuseppina Zirilli and Fortunato Lombardo
Inhibin B in adolescents and young adults with Turner
syndrome
1209
Sarar Mohamed, Edna F. Roche and Hilary M.C.V. Hoey
Mode of initial presentation and chromosomal
abnormalities in Irish patients with Turner syndrome: a
single-centre experience
1215
Esra D.P. Çakır, Halil Sağlam, Erdal Eren, Taner Özgür and
Ömer F. Tarım
Retrospective evaluation of pubertal development and
linear growth of girls with Turner Syndrome treated with
oral and transdermal estrogen
1219
Petrit Hoxha, Anila Babameto-Laku, Gentian Vyshka,
Klodiana Gjoka, Dorina Minxuri, Elira Myrtaj and Luljeta
Çakërri
Turner syndrome in Albania and the efficacy of its
treatment with growth hormone
1227
Review articles
Anna S. Challa, Stefania E. Makariou and Ekaterini C.
Siomou
The relation of vitamin D status with metabolic syndrome
in childhood and adolescence: an update
1235
Marta Diana Komarowska, Adam Hermanowicz and
Wojciech Debek
Putting the pieces together: cryptorchidism – do we
know everything?
1247
Original articles
Vehap Topcu, Hatice Ilgin-Ruhi, Zeynep Siklar,
Halil Gurhan Karabulut, Merih Berberoglu,
Bulent Hacihamdioglu, Senay Savas-Erdeve, Zehra
Aycan, Havva Nur Peltek-Kendirci, Gonul Ocal and Fatma
Ajlan Tukun
Investigation of androgen receptor gene mutations
in a series of 21 patients with 46,XY disorders of sex
development
1257
Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Erkan Sarı, Ediz
Yeşilkaya, Hüseyin Anıl Korkmaz, Korcan Demir, Ayça
Altıncık, Hale Ünver Tuhan, Sefa Kızıldağ, Behzat Özkan,
Serdar Ceylaner and Ece Böber
Molecular diagnosis of maturity-onset diabetes of the
young (MODY) in Turkish children by using targeted
next-generation sequencing
1265
Ebru Kaya Mutlu, Caner Mutlu, Hanifegul Taskiran and
Ilker Tolga Ozgen
Association of physical activity level with depression,
anxiety, and quality of life in children with type 1
diabetes mellitus
1273
Evgenia Globa, Nataliya Zelinska, Deborah J.G. Mackay,
Karen I. Temple, Jayne A.L. Houghton, Andrew T.
Hattersley, Sarah E. Flanagan and Sian Ellard
Neonatal diabetes in Ukraine: incidence,
genetics, clinical phenotype and treatment
1279
Richard Gnatzy, Gunther Hempel, Udo X. Kaisers and
Claudia Höhne
The effect of intraoperative administration of
dexamethasone for PONV prophylaxis on perioperative
blood glucose level in obese and normal weight children
1287
Unauthenticated
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Journal of Pediatric Endocrinology and Metabolism
2015 | Volume 28 | Issue 11/12
Celebi Kocaoglu, Muammer Buyukinan, Said Sami Erdem
and Ahmet Ozel
Are obesity and metabolic syndrome associated with
plasma adropin levels in children?
1293
Nursel Muratoglu Sahin, Sibel Tulgar Kinik, Mustafa Agah
Tekindal and Nilufer Bayraktar
AMH levels at central precocious puberty and premature
thelarche: is it a parameter?
1351
Ilgar Mamedov, Irina Zolkina, Ekaterina Nikolaeva, Pavel
Glagovsky and Vladimir Sukhorukov
Carnitine insufficiency in children with inborn errors of
metabolism: prevalence and treatment efficacy
1299
Bas Penders, Ralph Brecheisen, Angèle Gerver, Geertjan
van Zonneveld and Willem-Jan Gerver
Validating Paediatric Morphometrics: body proportion
measurement using photogrammetric anthropometry
1357
Ilanit Bomer, Carola Saure, Carolina Caminiti, Javier
Gonzales Ramos, Graciela Zuccaro, Mercedes Brea,
Mónica Bravo and Carmen Maza
Comparison of energy expenditure, body composition,
metabolic disorders, and energy intake between obese
children with a history of craniopharyngioma and
children with multifactorial obesity
1305
Han Hyuk Lim
Effect of serum cholesterol on bone mineral density in
normal-weight children and adolescents
1313
Zeynep Gökçe Gayretli Aydin, Aysun Bideci, Hamdi C.
Emeksiz, Nurullah Çelik, Esra Döğer, Neslihan Bukan,
Ummügülsüm Yildiz, Orhun M. Camurdan and Peyami
Cinaz
Assessment of bone turnover markers and bone mineral
density in normal short boys
1321
Dagmar Procházková, Jiří Jarkovský, Zdena Haňková,
Petra Konečná, Hana Benáková, Hana Vinohradská and
Alena Mikušková
Long-term treatment for hyperphenylalaninemia and
phenylketonuria: a risk for nutritional vitamin B12
deficiency?
1327
Melikşah Keskin, Şenay Savaş-Erdeve, Elif Sağsak,
Semra Çetinkaya and Zehra Aycan
Risk factors affecting the development of
nephrocalcinosis, the most common complication of
hypophosphatemic rickets
1333
Diana Stafford, Priya Vaidyanathan and Paul Kaplowitz
Children with hyperthyroidism younger than age 7
require higher mg/kg doses of methimazole to
normalize free T4 compared to older children
1339
Min Jeong Kim, Soo-Nyung Kim, In-Sik Lee, Sochung
Chung, Joonchul Lee, YouNa Yang, Inho Lee and SeongEun Koh
Effects of bisphosphonates to treat osteoporosis in
children with cerebral palsy: a meta-analysis
1343
Sarah Spielmann, Carl Joachim Partsch, Angela Gosch
and Rainer Pankau
Treatment of central precocious puberty and early
puberty with GnRH analog in girls with Williams-Beuren
syndrome
1363
Short communication
Roberta Tassinari, Francesca R. Mancini, Alberto
Mantovani, Luca Busani and Francesca Maranghi
Pilot study on the dietary habits and lifestyles of girls
with idiopathic precocious puberty from the city of
Rome: potential impact of exposure to flame retardant
polybrominated diphenyl ethers
1369
Patient reports
Michelle Coulter, Caroline Colvin, Bruce Korf, Ludwine
Messiaen, Benjamin Tuanama, Michael Crowley, David K.
Crossman and Kenneth McCormick
Hypomagnesemia due to two novel TRPM6 mutations
1373
Özlem Nalbantoğlu, Korcan Demir, Hüseyin Anıl Korkmaz,
Muammer Büyükinan, Melek Yıldız, Selma Tunç and
Behzat Özkan
A novel mutation of AMH in three siblings with persistent
Mullerian duct syndrome
1379
Emine Ayça Cimbek, Yaşar Şen, Sevil Arı Yuca, Demet
Çam, Celal Gür and Harun Peru
Kocher-Debré-Semelaigne syndrome with
rhabdomyolysis and increased creatinine
1383
Onur Akın, Süleyman Tolga Yavuz, Bülent Hacıhamdioğlu,
Erkan Sarı, Orhan Gürsel and Ediz Yeşilkaya
Anaphylaxis to gonadorelin acetate in a girl with central
precocious puberty
1387
Unauthenticated
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Journal of Pediatric Endocrinology and Metabolism
2015 | Volume 28 | Issue 11/12
Mary B. Abraham, Vinutha B. Shetty, Glynis Price,
Nicholas Smith, Martin de Bock, Aris Siafarikas, Steven
Resnick, Elizabeth Whan, Sian Ellard, Sarah E. Flanagan,
Elizabeth A. Davis, Timothy W. Jones, Khalid Hussain and
Catherine S. Choong
Efficacy and safety of sirolimus in a neonate with
persistent hypoglycaemia following near-total
pancreatectomy for hyperinsulinaemic hypoglycaemia
1391
Unauthenticated
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