ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
Volume: 7 Suppl: 2 - 2015
| 1. | Cover Page I |
| 2. | Editorial Candeğer Yılmaz Page II |
| 3. | The Usage of Genetic Technologies in Endocrine Diseases Ferda Özkınay Page 23 |
| 4. | Diabetes from the Clinician Perspective Şevki Çetinkalp Page 24 |
| 5. | Diabetes and Our Genes Hüseyin Onay Page 25 |
| 6. | Endocrine Disrupters and Epigenetics Özgür Çoğulu Pages 26 - 28 |
| 7. | Vitamin D in Sickness and Health Zeliha Hekimsoy Pages 27 - 28 |
| 8. | Clinical Approach to Thyroid Cancer and Nodules Mehmet Erdoğan Page 29 |
| 9. | Genetic Approach to Thyroid Nodules and Cancer Ajlan Tükün Page 30 |
| 10. | Genetic Mechanisms of Sex Development and New Approaches Hatice Ilgın Ruhi Page 31 |
| 11. | Clinical and Genetic Approach to Lipodystrophies Barış Akıncı Page 32 |
| 12. | A Pediatric Case with Congenital Generalized Lipodystrophy Samim Özen Page 33 |
| 13. | Familial Acromegaly Sema Yarman Page 34 |
| 14. | Clinical and Genetics Approaches to Hypogonadotropic Hypogonadism Ali Kemal Topaloğlu Page 35 |
| 15. | Clinical Findings of Osteoporosis Refik Tanakol Pages 37 - 39 |
| 16. | Genetic Approach to Osteoporosis Yasemin Alanay Page 40 |
| 17. | A Young Diabetic Case with Bloom Syndrome Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Mehmet Erdoğan, Şevki Çetinkalp, Özgür Çoğulu, A. Gökhan Özgen, L. Füsun Saygılı Page 42 |
| 18. | Melanocortin-4 Receptor Mutation and Obesity Ilgın Yıldırım Şimşir, Samim Özen, Hüseyin Onay, Mehmet Erdoğan, Damla Gökşen, A. Gökhan Özgen, L. Füsun Saygılı, Şükran Darcan, Candeğer Yılmaz, Şevki Çetinkalp Page 43 |
| 19. | Multiple Endocrine Neoplasia Type 4 (MEN4) Syndrome Ilgın Yıldırım Şimşir, Yeşim Ertan, Murat Sözbilen, Özer Makay, Mehmet Erdoğan, Şevki Çetinkalp, L. Füsun Saygılı, Candeğer Yılmaz, Afiğ Berdeli, A. Gökhan Özgen Page 44 |
| 20. | Two Siblings with Congenital Hyperinsulinism - Homozygote and Heterozygote Mutation Nursel Muratoğlu Şahin, Sibel Tulgar Kınık Page 45 |
| 21. | Investigation of Genes That are Defined with New Generation Sequence Analysis in Children/Adolescents Followed with Maturity Onset Diabetes of the Young Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Hüseyin Anıl Korkmaz, Korcan Demir, Ayça Altıncık, Erkan Sarı, Ediz Yeşilkaya, Hale Ünver Tuhan, Behzat Özkan, Sefa Kızıldağ, Ece Böber Page 46 |
| 22. | An Early Spontaneous Recovery in a Hyperinsulinemia and Hypoglycemia Case with a Recently Found Mutation on the Gene ABCC8 Ahmet Anık, Tolga Ünüvar, Gönül Çatlı, Ayhan Abacı, Ece Böber Page 47 |
| 23. | The Case of Transient Neonatal Diabetes Mellitus Associated with 6q24 Damla Gökşen, Samim Özen, Nurhan Özcan, Özgün Uygur, Mehmet Yalan, Şükran Darcan Page 48 |
| 24. | Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome Banu Sarer Yürekli, Nilüfer Özdemir Kutbay, Emin Karaca, Mehmet Erdoğan, Şevki Çetinkalp, Ömer Kitiş, A. Gökhan Özgen, Ferda Özkınay, L. Füsun Saygılı Page 49 |
| 25. | A Novel Mutation in Deficiency of 11 ß-Hydroxylase: A Possible Association with Disease Severity Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Ilgın Yıldırım Şimşir, Emine Kartal Baykan, Gökçen Ünal Kocabaş, Hüseyin Onay, Mehmet Erdoğan, Şevki Çetinkalp, A.Gökhan Özgen, L. Füsun Saygılı Page 50 |
| 26. | A Case of Polyglandular Autoimmune Syndrome Type One with Hypercalcemia and Hypotension Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Miray Yaman, Mehmet Erdoğan, Şevki Çetinkalp, L. Füsun Saygılı, Şükran Darcan, A. Gökhan Özgen Page 51 |
| 27. | Features of Nine Adult Cases of Osteogenesis Imperfecta Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Fatma Keklik, İlker Altun, Mehmet Erdoğan, Şevki Çetinkalp, A. Gökhan Özgen, Damla Gökşen, L. Füsun Saygılı Page 52 |
| 28. | Heterozygous AGPAT2 Mutation, Diabetes, and Lipodystrophy in Extremities Ilgın Yıldırım Şimşir, Barış Akıncı, Hüseyin Onay, Mehmet Erdoğan, Şevki Çetinkalp, A. Gökhan Özgen, Candeğer Yılmaz, L. Füsun Saygılı Page 53 |
| 29. | A Long Follow-Up of a Juvenile Case with Adrenal Cortical and Medullary Hyperplasia Havva Nur Peltek Kendirci, Zehra Aycan, Elena Belyavskaya, Constantine Astratakis Page 54 |
| 30. | Application of Next-Generation Sequencing Technology for CFTR Mutation Screening Selma Ulusal, Hakan Gürkan, Güven Toksoy, Yasemin Özen, Ülfet Vatansever, Hilmi Tozkır Page 55 |
| 31. | A Hypogonadotropic Hypogonadism Case as a Consequence of GNRHR Mutation Esra Döğer, Özge Yüce, Nurullah Çelik, Hamdi Cihan Emeksiz, Ali Kemal Topaloğlu, Aysun Bideci Page 56 |
| 32. | A New Mutation on the SFR1 (NR5A1) Gene in a 46 XY Sexual Development Disorder Case without the Adrenal Deficiency Ahmet Anık, Gönül Çatlı, Ayhan Abacı, Hale Ünver Tuhan, Hüseyin Onay, Ayça Aykut, Ece Böber Page 57 |
| 33. | Mozaic Turner Syndrome and Precocious Puberty Association: A Three-Year-Old Patient Özlem Sangün, Pınar Kiper Mısırlıoğlu, Tülün Savaş Page 58 |
| 34. | A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case Biray Ertürk, Emin Karaca, Caroline Silce, Ferda Özkınay Page 59 |
| 35. | An Obese Case with Homozygous Leptin Receptor Mutation Erdal Eren, Elif Söbü, Durmuş Doğan, Halil Sağlam, Johanne Le Bihan, Karine Clément, Ömer Tarım Page 60 |
| 36. | Magnetic Resonance Imaging Characteristics of a Dunnigan-Type Familial Partial Lipodystrophy Patient Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Emin Karaca, Hüseyin Onay, Barış Akıncı, Mehmet Erdoğan, Şevki Çetinkalp, Mustafa Seçil, A. Gökhan Özgen, L. Füsun Saygılı Page 61 |
| 37. | A Case of Hypocalciuric Hypercalcemia Accompanying Cystic Fibrosis Yaşar Şen, Sevil Arı Yuca, Fuat Buğrul Page 62 |
| 38. | Genetic Analysis of Lipodystrophies and Recently Found Mutations Hüseyin Onay, Barış Akıncı, Tahir Atik, Tevfik Demir, Samim Özen Page 63 |
| 39. | The Role of Adiponectin During Placental Development in Streptozotocin-Induced Rats Dijle Kipmen Korgun, Zeynep Avcıl, Ayşegül Erdoğan, Gözde Ünek, Aslı Özmen, Emin Turkay Korgun Page 64 |
| 40. | Congenital adrenal hyperplasia, CYP21A2 gene, premature pubarche, virilization, 21-hydroxylase deficiency Hüseyin Anıl Korkmaz, Melek Yıldız, Filiz Hazan, Korcan Demir, Selma Tunç, Özlem Nalbantoğlu Elmas, Behzat Özkan Page 65 |
| 41. | The Possible Role of Mitochondrial Uncoupling Protein 2 (UCP2) Gene on the Development of Metabolic Syndrome and Platelet Count in Obese Children/Adolescents - A Preliminary Study Nilgün Çöl Araz, Sibel Oğuzkan Balcı, Muradiye Nacak, Ayşe Balat, Sacide Pehlivan Page 66 |
| 42. | VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets Esra Deniz Papatya Çakır, Özgür Aldemir, Seyit Ahmet Uçaktürk, Erdal Eren, Samim Özen Page 67 |
| 43. | Two Siblings with Mutation in the Leptin Receptor Gene Bülent Hacıhamdioğlu, Naseebullah Kakar, Duygu Hacıhamdioğlu, Ferhan Karademir, Selami Süleymanoğlu, Guntram Borck Page 68 |
| 44. | Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes Mellitus Gülşah Y. Yalın, Sirhan Emiksiyev, Seher Tanrıkulu, Ayşe Kubat Üzüm, Ferihan Aral, Refik Tanakol, İlhan Satman Page 69 |
| 45. | A Case of Pycnodysostosis with Bilateral Choanal Atresia Ceren Damla Durmaz, Pınar Kocaay, Ömer Suat Fitöz, Hatice Ilgın Ruhi Page 70 |
| 46. | Three Male Cases with Isodicentric Y Chromosome Mosaicism Including 45,X Cell Line Şule Altıner, Özlem Türedi, Hatice Ilgın Ruhi Page 71 |
| 47. | A Rare Presentation of Friedreich’s Ataxia in Pediatric Case: Diabetes Mellitus Serpil Baş, Saygın Abalı, Zeynep Atay, Ziya Gurbanov, Sevda Çam, Dilşad Türkdoğan, Serap Turan, Abdullah Bereket Page 72 |
| 48. | Thyroid Hemiagenesis: A Case Report Avnı Kaya, Belma Haliloğlu, Hasan Balık Page 73 |
| 49. | A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene Ayşe Nur Kavasoğlu, Hüseyin Onay, Mehmet Argın, Ferda Özkınay Page 74 |
| 50. | A Case with Acrodysostosis and Hormone Resistance Selma Tunç, Korcan Demircan Sezer, Filiz Hazan, Özgür Kırbıyık, Eren Soyaltın, Özlem Nalbantoğlu Elmas, Melek Yıldız, Hüseyin Anıl Korkmaz, Behzat Özkan Page 75 |
| 51. | Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity Syndrome Pınar Kocaay, Zeynep Şıklar, Hatice Ilgın Ruhi, Emine Çamtosun, Ajlan Tükün, Merih Berberoğlu Page 76 |
| 52. | Genetic Analysis in Our Cases with Thyroid Dysgenesis Elif Özsu, Filiz Mine Çizmecioğlu, Gül Yeşiltepe Mutlu, Ayşegül Yüksel, Narumi Sotoshi, Şükrü Hatun Page 77 |
| 53. | A Rare Genetic Disorder: Partial Trisomy on Chromosome 21 Gül Yeşiltepe Mutlu, Hatip Aydın, Heves Kırmızıbekmez, Mahmut Doğru, Arda Çetinkaya, Ali Karaman Page 78 |
| 54. | An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene Banu Güzel Nur, Gamze Çelmeli, Erdoğan Soyuçen, Iffet Bircan, Ercan Mihçi Page 79 |
| 55. | A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene Gönül Çatlı, Ayhan Abacı, Ahmet Anık, Ranad Shaneen, Hale Ünver Tuhan, Derya Erçal, Ece Böber, Niema A. İbrahim, Mais O. Hashem, Fowzan Sami Alkuraya Page 80 |
| 56. | Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report Mikayir Genenş, Neşe Akcan, Zehra Yavaş Abalı, Firdevs Baş, Oya Uyguner, Şükran Poyrazoğlu, Güven Toksoy, Rüveyde Bundak, Feyza Darendeliler Page 81 |
| 57. | Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis Aslı Ece Solmaz, Hüseyin Onay, Tahir Atık, Ayça Aykut, Meltem Cerrah Güneş, Özge Özalp Yüreğir, Veysel Nijat Baş, Filiz Hazan, Özgür Kırbıyık, Ferda Özkinay Page 82 |
| 58. | Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis Fatih Gürbüz, Özge Özalp Yüreğir, Serdar Ceylaner, Ali Kemal Topaloğlu, Bilgin Yüksel Page 83 |
| 59. | Wolcott-Rallison Syndrome Fatih Gürbüz, Bilgin Yüksel, Ali Kemal Topaloğlu Page 84 |
| 60. | Severe Congenital Insulin Resistance Syndrome Due to a Compound Heterozygous c.836G>A & c.1268+2T>A Mutation in Insulin Receptor (INSR) Gene Emregül ışık, Hüseyin Demirbilek, Kevin Colclough, Sian Ellard Page 85 |
| 61. | Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia Cengiz Kara, Gülay Can Yılmaz, Hüseyin Demirbilek, Sarah E. Flanagan, Sian Ellard, Khalid Hussain, Murat Aydın Page 86 |
| 62. | Growth Hormone Treatment in an Adolescent with Pycnodysostosis Gülay Can Yılmaz, Cengiz Kara, Hüseyin Onay, Murat Aydın Page 87 |
| 63. | Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene Hilmi Bolat, Samim Özen, Hüseyin Onay, Elif Söbü, Ayhan Abacı, Hüseyin Anıl Korkmaz, Şule Can, Tahir Atik, Şükran Darcan, Ferda Özkınay Page 88 |
| 64. | A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation Nagehan Katipoğlu, Tuba Hilkay Karapınar, Korcan Demir, Sultan Aydın Köker, Özlem Nalbantoğlu, Yılmaz Ay, Hüseyin Anıl Korkmaz, Yeşim Oymak, Melek Yıldız, Esin Özcan, Selma Tunç, Filiz Hazan, Canan Vergin, Behzat Özkan Page 89 |
| 65. | Genetic Analysis of Lipodystrophies and Novel Mutations Hüseyin Onay, Barış Akıncı, Tahir Atik, Tevfik Demir, Samim Özen Page 90 |
| 66. | Chromosomal Abnormalities in 344 Patients who Were Referred to Cytogenetics Laboratory with Pre-Diagnosis of Short Stature, Turner Syndrome and Sex Developmental Disorders Afrooz Rashnonejad, Tahir Atik, İsmihan Merve Tekin, Caner Turan, Ozan Torun, Samim Özen, Özgür Çoğulu, Damla Gökşen, Şükran Darcan, Ferda Özkınay Page 91 |
| 67. | A Family with Multiple Endocrine Neoplasia Type 2A: Importance of Early Prophylactic Thyroidectomy Gönül Çatlı, Cemil Koçyiğit, Şule Can, Bumin Nuri Dündar Page 92 |
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