Volume 9, Issue 1 (Supplement)

June 2017
(1) Editorial, (58) Poster Presentations, (13) Free Communications

Cover

Cover Page


Editorial

Editorial
  • Ferda Özkınay
  • Şükran Darcan
  • Füsun Saygılı
J Clin Res Pediatr Endocrinol 2017; 9: 0-0

Poster Presentations

Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age
  • Emre Sedar Saygılı
  • Feyza Yener Öztürk
  • Esra Çil Sen
  • Rümeysa Selvinaz Erol
  • Belgin Eroğlu Kesim
  • Seda Erem Basmaz
  • Sezin Doğa Çakır
  • Adnan Batman
  • Yüksel Altuntaş
J Clin Res Pediatr Endocrinol 2017; 9: 1-1
8Q22.3-Q24.23 Duplication: A Case Report
  • Hande Küçük Kurtulgan
  • Malik Ejder Yıldırım
  • Burak Baser
  • Leyla Özer
  • Ilhan Sezgin
J Clin Res Pediatr Endocrinol 2017; 9: 1-1
Parental View on the Terminology of Disorders of Sex Development
  • Sibel Tiryaki
  • Ali Tekin
  • İsmail Yağmur
  • Samim Özen
  • Burcu Özbaran
  • Damla Gökşen
  • Şükran Darcan
  • İbrahim Ulman
  • Ali Avanoğlu
J Clin Res Pediatr Endocrinol 2017; 9: 1-2
A Male Case of Aromatase Deficiency with a Novel CYP19A1 Mutation
  • Ümmet Abur
  • Ayşegül Atmaca
  • Hamish Scott
  • Lucia Gagliardi
  • Engin Altundağ
  • Ömer Salih Akar
  • ilkay Koray Bayrak
  • Gönül Oğur
J Clin Res Pediatr Endocrinol 2017; 9: 2-2
CYP11A1 Mutations Result in Various Clinical Phenotypes
  • Ayla Güven
  • Federica Buonocore
  • John Achermann
  • Tülay Güran
J Clin Res Pediatr Endocrinol 2017; 9: 2-3
The Role of Adenovirus Serotype 36 in Childhood Obesity
  • Tamer Şanlıdağ
  • Burçin Şanlıdağ
  • Ayşe Arikan
  • Neşe Akcan
  • Rüveyde Bundak
  • Murat Uncu
  • Nerin Bahçeciler Önder
J Clin Res Pediatr Endocrinol 2017; 9: 3-3
A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation
  • Fatih Gürbüz
  • İhsan Turan
  • Mehmet Tastan
  • Ali Kemal Topaloğlu
  • Bilgin Yüksel
J Clin Res Pediatr Endocrinol 2017; 9: 4-4
Gene Conversion and Congenital Adrenal Hyperplasia: Two Case Reports
  • Mine Balasar
  • Beray Selver Eklioğlu
  • Pelin Taşdemir
  • Mehmet Emre Atabek
J Clin Res Pediatr Endocrinol 2017; 9: 4-4
Heterozygous p.D61G Mutation in a Patient with Noonan Syndrome
  • Hüseyin Anıl Korkmaz
J Clin Res Pediatr Endocrinol 2017; 9: 4-5
A New Mutation in an Infant with Hypercalcemia
  • Sevinç Odabaşı Güneş
  • Ayça Törel Ergür
J Clin Res Pediatr Endocrinol 2017; 9: 5-5
An Infant with Leydig Cell Hypoplasia Presenting with Bilateral Inguinal Masses
  • Fatma Ö. Çömlek
  • Fatma Seyrek
  • Raif Yıldız
  • Serdar Ceylaner
  • Filiz Tütüncüler
J Clin Res Pediatr Endocrinol 2017; 9: 5-5
A Case Presentation: Sleeve Gastrectomy with Transit Bipartition as a Treatment of Type 2 Diabetes Mellitus Applied for the First Time to a Bulgarian Citizen
  • Zehra Bahar Gey
  • Tugrul Demirel
  • Senay Sadik
J Clin Res Pediatr Endocrinol 2017; 9: 6-6
Incidentally Detected Monogenic Diabetes Case
  • Bahri Evren
  • Ömercan Topaloğlu
  • Sedat Çetin
  • İbrahim Şahin
J Clin Res Pediatr Endocrinol 2017; 9: 6-6
A Rare Cause of Insulin-Dependent Diabetes: Two Siblings with Walcott-Rallison Syndrome
  • Elif Söbü
  • Erdal Eren
  • Özgecan Demirbaş
  • Halil Sağlam
  • Ömer Tarım
J Clin Res Pediatr Endocrinol 2017; 9: 6-7
Isolated Hypoaldosteronism: A Case Report
  • İhsan Turan
  • Fatih Gürbüz
  • Mehmet Taşdan
  • Leman Damla Kotan
  • Ali Kemal Topaloğlu
  • Bilgin Yüksel
J Clin Res Pediatr Endocrinol 2017; 9: 7-7
Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome
  • Gamze Çelmeli
  • Mesut Parlak
  • Banu Güzel Nur
  • Ercan Mihçi
  • Sema Akçurin
  • İffet Bircan
J Clin Res Pediatr Endocrinol 2017; 9: 7-7
A Novel Mutation in a Patient with 5-a Reductase Deficiency Reared as Girl
  • Hüseyin Anıl Korkmaz
  • Hüseyin Onay
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 8-8
Two Cases of Klinefelter Syndrome
  • Hatice Özışık
  • Banu Sarer Yürekli
  • Nilüfer Özdemir Kutbay
  • Hüseyin Onay
  • Mehmet Erdoğan
  • Şevki Çetinkalp
  • Gökhan Özgen
  • Füsun Saygılı
J Clin Res Pediatr Endocrinol 2017; 9: 8-8
Major Depression and Fabry Disease: A Case Report
  • Zeynel Abidin Sayıner
  • Ayten Eraydın
  • Suzan Tabur
  • Mesut Özkaya
  • Ersin Akarsu
  • Mustafa Araz
J Clin Res Pediatr Endocrinol 2017; 9: 8-9
A Case of MEN 2A: D631Y Mutation
  • Banu Sarer Yürekli
  • Hatice Özışık
  • Nilüfer Özdemir Kutbay
  • Hüseyin Onay
  • Gökhan Özgen
J Clin Res Pediatr Endocrinol 2017; 9: 9-9
A Case of Androgen Insensitivity Syndrome Presenting with Micropenis
  • Hüseyin Anıl Korkmaz
J Clin Res Pediatr Endocrinol 2017; 9: 9-9
Two Siblings with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
  • Emregül Işık
  • Andrew Jackson
J Clin Res Pediatr Endocrinol 2017; 9: 10-10
A Rare Genodermatosis: H Syndrome
  • Özlem Sezer
  • Düriye Sıla Karagöz Özen
  • Mehmet Derya Demirağ
  • İsmail Toto
  • Hacer PInar Öztürk
  • Fatih Toy
  • A. Gülhan Ercan Sençiçek
  • Ahmet Okay Çağlayan
J Clin Res Pediatr Endocrinol 2017; 9: 10-10
Non-Genetic Factors Altering Birth and Fertility Rates
  • Dilara Çelebi
J Clin Res Pediatr Endocrinol 2017; 9: 10-11
A Rare Cause of Obesity: ROHHAD Syndrome
  • Gülay Can Yılmaz
  • Cengiz Kara
  • Filiz Serdaroğlu
  • Haydar Ali Taşdemir
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2017; 9: 11-11
Osteogenesis Imperfecta: Case Report
  • Nilüfer Özdemir Kutbay
  • Banu Sarer Yürekli
  • Hatice Özışık
  • Halit Diri
J Clin Res Pediatr Endocrinol 2017; 9: 11-11
A Case of 46,XX DSD Due to a Novel Mutation in P450 Oxidoreductase Gene
  • Melek Yıldız
  • Alper Gezdirici
  • Banu Aydın
  • Hasan Önal
  • Abdurrahman Akgün
  • Beyza Belde Doğan
  • Teoman Akçay
J Clin Res Pediatr Endocrinol 2017; 9: 12-12
New Chromosomal ins(6;7)(Q13:P22) Anomaly in Klinefelter Syndrome Detected Coincidentally in Patient with Signs of Primary Hypogonadism
  • Ömercan Topaloğlu
  • Bahri Evren
  • Emine Yaşar
  • İbrahim Şahin
J Clin Res Pediatr Endocrinol 2017; 9: 12-12
PROP1-Related Combined Pituitary Hormone Deficiency: Case Report
  • Ahu Paketçi
  • Sezer Acar
  • Korcan Demir
  • Ayhan Abacı
  • Ece Böber
J Clin Res Pediatr Endocrinol 2017; 9: 12-13
Schmid Type of Metaphyseal Chondrodysplasia with COL10A1 Mutation
  • Emine Ayça Cimbek
  • Yaşar Sen
  • Aşkın Sen
  • Sevil Arı Yuca
  • Fuat Buğrul
J Clin Res Pediatr Endocrinol 2017; 9: 13-13
A Case Report of Seckel Syndrome
  • Hatice Özışık
  • Banu Sarer Yürekli
  • Samim Özen
  • Füsun Saygılı
J Clin Res Pediatr Endocrinol 2017; 9: 13-13
Monogenic Diabetes Case Presented with Symptomatic Hyperglycemia and Atypical Mutation
  • Ömercan Topaloğlu
  • Bahri Evren
  • İbrahim Şahin
J Clin Res Pediatr Endocrinol 2017; 9: 14-14
Case Report of Leri-Weill Dyscontrosteosis Caused By SHOX Gene Deletion
  • Emel Hatun Aytaç Kaplan
  • Mehmet Keskin
  • Melda Melik
J Clin Res Pediatr Endocrinol 2017; 9: 14-14
A Case of Marfan Syndrome Presenting with Transverse Striae of the Back
  • Hüseyin Anıl Korkmaz
J Clin Res Pediatr Endocrinol 2017; 9: 14-15
Diagnostic Algoritm in Two Different Cases with Subclinical Endocrinologic Problems
  • Ayça Törel Ergür
  • Sevinç Odabaşı Güneş
J Clin Res Pediatr Endocrinol 2017; 9: 15-15
A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive MODY
  • Sezer Acar
  • Ayhan Abacı
  • Korcan Demir
  • Taha Resid Özdemir
  • Berk Özyılmaz
  • Ece Böber
J Clin Res Pediatr Endocrinol 2017; 9: 15-15
Two Cases of Testicular Adrenal Rest Tumor (TART)
  • Hatice Özışık
  • Banu Şarer Yürekli
  • Ilgin Yıldırım Şimşir
  • İlker Altun
  • Utku Soyaltın
  • Ezgi Güler
  • Hüseyin Onay
  • Banu Sarsık Kumbaraci
  • Füsun Saygılı
J Clin Res Pediatr Endocrinol 2017; 9: 16-16
Hepatic Glycogenosis in a Patient with Type 1 Diabetes: Mauriac Syndrome vs. Congenital Glycogen Storage Disease
  • Ömercan Topaloğlu
  • Sibel Demiral Sezer
  • Bilgin Demir
  • Abdullah Serkan Yener
J Clin Res Pediatr Endocrinol 2017; 9: 16-16
A Novel Mutation in INSR Gene in a Child Presenting with Acanthosis Nigricans
  • Hale Tuhan
  • Serdar Ceylaner
  • Özlem Nalbantoğlu
  • Sezer Acar
  • Ayhan Abacı
  • Ece Böber
  • Korcan Demir
J Clin Res Pediatr Endocrinol 2017; 9: 17-17
Thyroid Hormone Resistance P453A Mutation
  • Aylin Kilinç Ugurlu
  • Esra Döger
  • Emine Demet Akbaş
  • Aysun Bideci
  • Orhun Çamurdan
  • Peyami Cinaz
J Clin Res Pediatr Endocrinol 2017; 9: 17-17
A Case of Vanishing Testis Syndrome
  • Hüseyin Anıl Korkmaz
J Clin Res Pediatr Endocrinol 2017; 9: 17-18
Warburg Micro Syndrome: A New Case from Consanguineous Parents
  • Ayla Güven
J Clin Res Pediatr Endocrinol 2017; 9: 18-18
Williams Syndrome Associated with Isolated Growth Hormone Deficiency: Is It Just a Coincidence?
  • Gönül Oğur
  • Cengiz Kara
  • Hatice Yelda Yalçın
  • Ayşegül Yılmaz
  • Engin Altundağ
  • Ümmet Abur
  • Kemal Baysal
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2017; 9: 18-18
Atypical LMNA Mutation in EXON 11 Associated with a Milder Clinical Outcome in Dunnigan-Type Familial Partial Lipodystrophy
  • Başak Özgen Saydam
  • Ümit Çavdar
  • Canan Altay
  • Hüseyin Onay
  • Ilgın Yıldırım Şimşir
  • Tevfik Demir
  • Barış Akıncı
J Clin Res Pediatr Endocrinol 2017; 9: 19-19
A Novel Mutation in AMHR2 Gene in Two Siblings with Persistent Müllerian Duct Syndrome
  • Aydilek Dağdeviren Çakır
  • Hande Turan
  • Beyhan Tüysüz
  • Hüseyin Onay
  • Oya Ercan
  • Saadet Olcay Evliyaoğlu
J Clin Res Pediatr Endocrinol 2017; 9: 19-19
A Case of SHOX Gene Deletion Diagnosed By Microarray
  • Erhan Parıltay
  • Esra Işık
  • Tahir Atik
  • Özgür Çoğulu
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 20-20
HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome
  • Tahir Atik
  • Esra Işık
  • Samim Özen
  • Bilçağ Akgün
  • Hüseyin Onay
  • Özgür Çoğulu
  • Bekir Ergüner
  • Sümeyra Savaş
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 20-20
POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency
  • Bilçağ Akgün
  • Zehra Karademir
  • Esra Işık
  • Şükran Darcan
  • Ayça Aykut
  • Asude Durmaz
  • Samim Özen
  • Muammer Büyükinan
  • Hüseyin Onay
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 20-21
FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis
  • Emine Ipek Ceylan
  • Asli Ece Solmaz
  • Hüseyin Onay
  • Ayça Aykut
  • Asude Durmaz
  • Gözde Yesil
  • Filiz Hazan
  • Aslihan Kiraz
  • Beyhan Tüysüz
  • Meltem Cerrah Günes
J Clin Res Pediatr Endocrinol 2017; 9: 21-21
The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations
  • Esra Işık
  • Hüseyin Onay
  • Bilçağ Akgün
  • Tahir Atik
  • Ayça Aykut
  • Asude Durmaz
  • Munis Dündar
  • Yaşar Bekir Kurtbay
  • Ercan Mihçi
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 21-22
Anthropometric Measurements and Complications of Achondroplasia Patients
  • Esra Işık
  • Şükran Darcan
  • Ayşenur Kavasoğlu
  • Tahir Atik
  • Hüseyin Onay
  • Damla Gökşen Şimşek
  • Asude Durmaz
  • Ayça Aykut
  • Özgür Çoğulu
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 22-22
Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations
  • Ferda Özkınay
  • Esra Işık
  • Damla Gökşen Şimşek
  • Ayça Aykut
  • Emin Karaca
  • Samim Özen
  • Hilmi Bolat
  • Tahir Atik
  • Hüseyin Onay
J Clin Res Pediatr Endocrinol 2017; 9: 22-22
MEN 2A Family
  • Zafer Pekkolay
  • Hikmet Soylu
  • Belma Özlem Tural Balsak
  • Mehmet Güven
  • Alpaslan Kemal Tuzcu
J Clin Res Pediatr Endocrinol 2017; 9: 22-23
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development
  • Hüseyin Onay
  • Samim Özen
  • Tuba Sözen Türk
  • Şükran Darcan
  • Tahir Atik
  • Ahmet Anık
  • Oya Ercan
  • Olcay Evliyaoğlu
  • Gönül Çatlı
  • Filiz Hazan
  • Ayhan Abacı
J Clin Res Pediatr Endocrinol 2017; 9: 23-23
A Novel HESX1 Mutation in a Case with Panhypopituitarism
  • Aslı Ece Solmaz
  • Ayça Aykut
  • Asude Durmaz
J Clin Res Pediatr Endocrinol 2017; 9: 23-24
Homozygous SHOX Gene Deletion Detected by Array-CGH in a Girl with Langer Mesomelic Dysplasia
  • Adam Najafli
  • Birsen Karaman
  • Bilge Nihan Satkin
  • Umut Altunoğlu
  • Oya Uyguner
  • Seher Başaran
J Clin Res Pediatr Endocrinol 2017; 9: 24-24
Four 46,XY DSD Cases with Novel Mutations in AR and SRD5A2 Genes
  • Agharza Aghayev
  • Güven Toksoy
  • Firdevs Baş
  • Umut Altunoğlu
  • Birsen Karaman
  • Şükran PoyrazoĞlu
  • Feyza Darendeliler
  • Hülya Kayserili
  • Seher Başaran
  • Z. Oya Uyguner
J Clin Res Pediatr Endocrinol 2017; 9: 24-24
PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis
  • Semih Aşıkovalı
  • Ayça Aykut
  • Asude Durmaz
  • Hüseyin Onay
  • Filiz Hazan
  • Samim Özen
  • Tahir Atik
  • Cengiz Kara
  • Erhan Mihçi
  • Damla Gökşen
J Clin Res Pediatr Endocrinol 2017; 9: 25-25

Free Communications

Impact of CYP21A2 Gene Mutations on Clinical Management of Congenital Adrenal Hyperplasia
  • Aslıhan Sanrı
  • Berk Özyılmaz
  • Hatice Mutlu Albayrak
  • Engin Altundağ
  • Mediniye Karadağ Alpaslan
  • Gülay Can Yılmaz
  • Cengiz Kara
  • Gönül Oğur
J Clin Res Pediatr Endocrinol 2017; 9: 25-25
Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations
  • Hüseyin Onay
  • Esra Işık
  • Samim Özen
  • Ayşe Nur Kavasoğlu
  • Ilgın Yıldırım Şimşir
  • Tahir Atik
  • Banu Sarer Yürekli
  • Hazal Yavuz
  • İbrahim Başol
  • Şükran Darcan
  • Ferda Özkınay
J Clin Res Pediatr Endocrinol 2017; 9: 26-26
17-Hydroxylase Deficiency: Rare Cause of Delayed Puberty
  • Ayla Güven
  • Tülay Güran
  • Nils Krone
J Clin Res Pediatr Endocrinol 2017; 9: 26-26
Investigation of Association Between Paraoxonase-1 L55M (RS854560) and Q192R (RS662) Polymorphisms and Potential Atherosclerotic Risk Factors in PCOS Patients
  • Hatice Sevim Nalkıran
  • Teslime Ayaz
  • İhsan Nalkıran
  • Ali İrfan Güzel
  • Tuğba Durakoğlugil
  • Yasin Yıldız
J Clin Res Pediatr Endocrinol 2017; 9: 27-27
Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation
  • Dilek Uludağ Alkaya
  • Saliha Yılmaz
  • Olcay Evliyaoğlu
  • Kaya Bilguvar
  • Murat Günel
  • Beyhan Tüysüz
J Clin Res Pediatr Endocrinol 2017; 9: 27-27
Clinical and Genetic Features of Our Patients with Hypophosphatemic Rickets
  • Sezer Acar
  • Roua A. Al-Rijjal
  • Brian Meyer
  • Yufei Shi
  • Korcan Demir
  • Ece Böber
  • Walaa E. Kattan
  • Gönül Çatlı
  • Huda Binessa
  • Ayhan Abacı
  • Bumin Dündar
  • Minjing Zou
  • Salih Kavukçu
J Clin Res Pediatr Endocrinol 2017; 9: 28-28
The Relationship Between Gestational Diabetes Mellitus and Selenoprotein-P Plasma 1 (SEPP1) Gene Polymorphisms
  • Gülhan Akbaba
  • Eren Akbaba
  • Cem Şahin
  • Murat Kara
J Clin Res Pediatr Endocrinol 2017; 9: 28-28
Hyperinsulinemic Hypoglycemia Due to Homozygous C.706 C>T (P. R236X) Mutation in 3 Siblings: Presentation with Resistant Epilepsy
  • Atilla Çayır
  • Elisa De Franco
  • Ufuk Utku Güllü
  • Sarah E. Flanagan
  • Sian Ellard
  • Hüseyin Demirbilek
J Clin Res Pediatr Endocrinol 2017; 9: 29-29
Investigation of LDLR Gene Mutations in Turkish Patients with Familial Hypercholesterolemia
  • İlyas Okur
  • Fatih Süheyl Ezgü
  • Aslı İnci
  • Asburçe Bike Olgaç
  • Leyla Tümer
J Clin Res Pediatr Endocrinol 2017; 9: 29-29
A Novel THRA Gene Mutation in Patient with Thyroid Hormone Resistance
  • Özlem Korkmaz
  • Samim Özen
  • Taha Resid Özdemir
  • Damla Gökşen
  • Şükran Darcan
J Clin Res Pediatr Endocrinol 2017; 9: 29-30
Analysis of THR? Gene in Turkish Patients and Definition of Three Novel Pathogenic Variants
  • Hakan Gürkan
  • Mehmet Çelik
  • Güzin Fidan Yaylalı
  • Ekrem Algün
  • Mustafa Çalışkan
  • Tülay Omma
  • Ruken Yıldırım
  • Edip Unal
  • Buket Yılmaz Bülbül
  • Selma Ulusal
J Clin Res Pediatr Endocrinol 2017; 9: 30-30
Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types
  • Nilay Güneş
  • Tülay Erkan
  • Tufan Kutlu
  • Hüseyin Onay
  • Ferda Özkınay
  • Beyhan Tüysüz
J Clin Res Pediatr Endocrinol 2017; 9: 30-31
Progeroid Syndrome Patients with ZMPSTE24 Deficiency Could Benefit When Treated with Rapamycin and Dimethylsulfoxide
  • Barış Akıncı
  • Shireesha Sankella
  • Christopher Gilpin
  • Keeichi Ozono
  • Abhimanyu Garg
  • Anıl K. Agarwal
J Clin Res Pediatr Endocrinol 2017; 9: 31-31

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