ISSN: 1308-5727 | E-ISSN: 1308-5735
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Volume: 9 Suppl: 1 - 2017
| 1. | Cover Page I |
| 2. | Cover Page I |
| 3. | 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 Page 1 Abstract |  Full Text PDF |
| 4. | Parental View on the Terminology of Disorders of Sex Development Ümmet Abur, Ayşegül Atmaca, Hamish Scott, Lucia Gagliardi, Engin Altundağ, Ömer Salih Akar, ilkay Koray Bayrak, Gönül Oğur Page 2 Abstract | Full Text PDF |
| 5. | The Role of Adenovirus Serotype 36 in Childhood Obesity Tamer Şanlıdağ, Burçin Şanlıdağ, Ayşe Arikan, Neşe Akcan, Rüveyde Bundak, Murat Uncu, Nerin Bahçeciler Önder, Tamer Şanlıdağ, Burçin Şanlıdağ, Ayşe Arikan, Neşe Akcan, Rüveyde Bundak, Murat Uncu, Nerin Bahçeciler Önder Page 3 Abstract | Full Text PDF |
| 6. | A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation Fatih Gürbüz, İhsan Turan, Mehmet Tastan, Ali Kemal Topaloğlu, Bilgin Yüksel Page 4 Abstract | Full Text PDF |
| 7. | A New Mutation in an Infant with Hypercalcemia Sevinç Odabaşı Güneş, Ayça Törel Ergür Page 5 Abstract | Full Text PDF |
| 8. | 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 Page 6 Abstract | Full Text PDF |
| 9. | Isolated Hypoaldosteronism: A Case Report İhsan Turan, Fatih Gürbüz, Mehmet Taşdan, Leman Damla Kotan, Ali Kemal Topaloğlu Page 7 Abstract | Full Text PDF |
| 10. | A Novel Mutation in a Patient with 5-a Reductase Deficiency Reared as Girl Hüseyin Anıl Korkmaz, Hüseyin Onay, Ferda Özkınay Page 8 Abstract | Full Text PDF |
| 11. | A Case of MEN 2A: D631Y Mutation Banu Sarer Yürekli, Hatice Özışık, Nilüfer Özdemir Kutbay, Hüseyin Onay, Gökhan Özgen Page 9 Abstract | Full Text PDF |
| 12. | Two Siblings with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) Emregül Işık, Andrew Jackson Page 10 Abstract | Full Text PDF |
| 13. | A Rare Cause of Obesity: ROHHAD Syndrome Gülay Can Yılmaz, Cengiz Kara, Filiz Serdaroğlu, Haydar Ali Taşdemir, Murat Aydın Page 11 Abstract | Full Text PDF |
| 14. | 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 Page 12 Abstract | Full Text PDF |
| 15. | Schmid Type of Metaphyseal Chondrodysplasia with COL10A1 Mutation Emine Ayça Cimbek, Yaşar Sen, Aşkın Sen, Sevil Arı Yuca, Fuat Buğrul Page 13 Abstract | Full Text PDF |
| 16. | Monogenic Diabetes Case Presented with Symptomatic Hyperglycemia and Atypical Mutation Ömercan Topaloğlu, Bahri Evren, İbrahim Şahin Page 14 Abstract | Full Text PDF |
| 17. | Diagnostic Algoritm in Two Different Cases with Subclinical Endocrinologic Problems Ayça Törel Ergür, Sevinç Odabaşı Güneş Page 15 Abstract | Full Text PDF |
| 18. | 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 Page 16 Abstract | Full Text PDF |
| 19. | 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 Page 17 Abstract | Full Text PDF |
| 20. | Warburg Micro Syndrome: A New Case from Consanguineous Parents Ayla Güven Page 18 Abstract | Full Text PDF |
| 21. | 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 Page 19 Abstract | Full Text PDF |
| 22. | A Case of SHOX Gene Deletion Diagnosed By Microarray Erhan Parıltay, Esra Işık, Tahir Atik, Özgür Çoğulu, Ferda Özkınay Page 20 Abstract | Full Text PDF |
| 23. | 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 Page 21 Abstract | Full Text PDF |
| 24. | 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 Page 22 Abstract | Full Text PDF |
| 25. | 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 Page 23 Abstract | Full Text PDF |
| 26. | 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 Page 25 Abstract | Full Text PDF |
| 27. | 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 Page 26 Abstract | Full Text PDF |
| 28. | 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 Page 27 Abstract | Full Text PDF |
| 29. | 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 Page 28 Abstract | Full Text PDF |
| 30. | 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 Page 29 Abstract | Full Text PDF |
| 31. | 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 Page 30 Abstract | Full Text PDF |
| 32. | 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 Page 31 Abstract | Full Text PDF |
| 33. | Editorial Ferda Özkınay, Şükran Darcan, Füsun Saygılı Page 32 Abstract | Full Text PDF |
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