Editorial
Editorial
Ferda Özkınay, Şükran Darcan, Füsun Saygılı
Parental View on the Terminology of Disorders of Sex Development
Sibel Tiryaki, Ali Tekin, İsmail Yağmur, et al.
8Q22.3-Q24.23 Duplication: A Case Report
Hande Küçük Kurtulgan, Malik Ejder Yıldırım, Burak Baser, et al.
Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age
Emre Sedar Saygılı, Feyza Yener Öztürk, Esra Çil Sen, et al.
CYP11A1 Mutations Result in Various Clinical Phenotypes
Ayla Güven, Federica Buonocore, John Achermann, et al.
A Male Case of Aromatase Deficiency with a Novel CYP19A1 Mutation
Ümmet Abur, Ayşegül Atmaca, Hamish Scott, et al.
The Role of Adenovirus Serotype 36 in Childhood Obesity
Tamer Şanlıdağ, Burçin Şanlıdağ, Ayşe Arikan, et al.
Heterozygous p.D61G Mutation in a Patient with Noonan Syndrome
Hüseyin Anıl Korkmaz
Gene Conversion and Congenital Adrenal Hyperplasia: Two Case Reports
Mine Balasar, Beray Selver Eklioğlu, Pelin Taşdemir, et al.
A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation
Fatih Gürbüz, İhsan Turan, Mehmet Tastan, et al.
An Infant with Leydig Cell Hypoplasia Presenting with Bilateral Inguinal Masses
Fatma Ö. Çömlek, Fatma Seyrek, Raif Yıldız, et al.
A New Mutation in an Infant with Hypercalcemia
Sevinç Odabaşı Güneş, Ayça Törel Ergür
A Rare Cause of Insulin-Dependent Diabetes: Two Siblings with Walcott-Rallison Syndrome
Elif Söbü, Erdal Eren, Özgecan Demirbaş, et al.
Incidentally Detected Monogenic Diabetes Case
Bahri Evren, Ömercan Topaloğlu, Sedat Çetin, et al.
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
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, et al.
Isolated Hypoaldosteronism: A Case Report
İhsan Turan, Fatih Gürbüz, Mehmet Taşdan, et al.
Major Depression and Fabry Disease: A Case Report
Zeynel Abidin Sayıner, Ayten Eraydın, Suzan Tabur, et al.
Two Cases of Klinefelter Syndrome
Hatice Özışık, Banu Sarer Yürekli, Nilüfer Özdemir Kutbay, et al.
A Novel Mutation in a Patient with 5-a Reductase Deficiency Reared as Girl
Hüseyin Anıl Korkmaz, Hüseyin Onay, Ferda Özkınay
A Case of Androgen Insensitivity Syndrome Presenting with Micropenis
Hüseyin Anıl Korkmaz
A Case of MEN 2A: D631Y Mutation
Banu Sarer Yürekli, Hatice Özışık, Nilüfer Özdemir Kutbay, et al.
A Rare Genodermatosis: H Syndrome
Özlem Sezer, Düriye Sıla Karagöz Özen, Mehmet Derya Demirağ, et al.
Two Siblings with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)
Emregül Işık, Andrew Jackson
Osteogenesis Imperfecta: Case Report
Nilüfer Özdemir Kutbay, Banu Sarer Yürekli, Hatice Özışık, et al.
A Rare Cause of Obesity: ROHHAD Syndrome
Gülay Can Yılmaz, Cengiz Kara, Filiz Serdaroğlu, et al.
PROP1-Related Combined Pituitary Hormone Deficiency: Case Report
Ahu Paketçi, Sezer Acar, Korcan Demir, et al.
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, et al.
A Case of 46,XX DSD Due to a Novel Mutation in P450 Oxidoreductase Gene
Melek Yıldız, Alper Gezdirici, Banu Aydın, et al.
A Case Report of Seckel Syndrome
Hatice Özışık, Banu Sarer Yürekli, Samim Özen, et al.
Schmid Type of Metaphyseal Chondrodysplasia with COL10A1 Mutation
Emine Ayça Cimbek, Yaşar Sen, Aşkın Sen, et al.
A Case of Marfan Syndrome Presenting with Transverse Striae of the Back
Hüseyin Anıl Korkmaz
Case Report of Leri-Weill Dyscontrosteosis Caused By SHOX Gene Deletion
Emel Hatun Aytaç Kaplan, Mehmet Keskin, Melda Melik
Monogenic Diabetes Case Presented with Symptomatic Hyperglycemia and Atypical Mutation
Ömercan Topaloğlu, Bahri Evren, İbrahim Şahin
A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive MODY
Sezer Acar, Ayhan Abacı, Korcan Demir, et al.
Diagnostic Algoritm in Two Different Cases with Subclinical Endocrinologic Problems
Ayça Törel Ergür, Sevinç Odabaşı Güneş
Hepatic Glycogenosis in a Patient with Type 1 Diabetes: Mauriac Syndrome vs. Congenital Glycogen Storage Disease
Ömercan Topaloğlu, Sibel Demiral Sezer, Bilgin Demir, et al.
Two Cases of Testicular Adrenal Rest Tumor (TART)
Hatice Özışık, Banu Şarer Yürekli, Ilgin Yıldırım Şimşir, et al.
A Case of Vanishing Testis Syndrome
Hüseyin Anıl Korkmaz
Thyroid Hormone Resistance P453A Mutation
Aylin Kilinç Ugurlu, Esra Döger, Emine Demet Akbaş, et al.
A Novel Mutation in INSR Gene in a Child Presenting with Acanthosis Nigricans
Hale Tuhan, Serdar Ceylaner, Özlem Nalbantoğlu, et al.
Williams Syndrome Associated with Isolated Growth Hormone Deficiency: Is It Just a Coincidence?
Gönül Oğur, Cengiz Kara, Hatice Yelda Yalçın, et al.
A Novel Mutation in AMHR2 Gene in Two Siblings with Persistent Müllerian Duct Syndrome
Aydilek Dağdeviren Çakır, Hande Turan, Beyhan Tüysüz, et al.
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, et al.
POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency
Bilçağ Akgün, Zehra Karademir, Esra Işık, et al.
HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome
Tahir Atik, Esra Işık, Samim Özen, et al.
A Case of SHOX Gene Deletion Diagnosed By Microarray
Erhan Parıltay, Esra Işık, Tahir Atik, et al.
The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations
Esra Işık, Hüseyin Onay, Bilçağ Akgün, et al.
FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis
Emine Ipek Ceylan, Asli Ece Solmaz, Hüseyin Onay, et al.
MEN 2A Family
Zafer Pekkolay, Hikmet Soylu, Belma Özlem Tural Balsak, et al.
Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations
Ferda Özkınay, Esra Işık, Damla Gökşen Şimşek, et al.
Anthropometric Measurements and Complications of Achondroplasia Patients
Esra Işık, Şükran Darcan, Ayşenur Kavasoğlu, et al.
A Novel HESX1 Mutation in a Case with Panhypopituitarism
Aslı Ece Solmaz, Ayça Aykut, Asude Durmaz
Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development
Hüseyin Onay, Samim Özen, Tuba Sözen Türk, et al.
Four 46,XY DSD Cases with Novel Mutations in AR and SRD5A2 Genes
Agharza Aghayev, Güven Toksoy, Firdevs Baş, et al.
Homozygous SHOX Gene Deletion Detected by Array-CGH in a Girl with Langer Mesomelic Dysplasia
Adam Najafli, Birsen Karaman, Bilge Nihan Satkin, et al.
Impact of CYP21A2 Gene Mutations on Clinical Management of Congenital Adrenal Hyperplasia
Aslıhan Sanrı, Berk Özyılmaz, Hatice Mutlu Albayrak, et al.
PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis
Semih Aşıkovalı, Ayça Aykut, Asude Durmaz, et al.
17-Hydroxylase Deficiency: Rare Cause of Delayed Puberty
Ayla Güven, Tülay Güran, Nils Krone
Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations
Hüseyin Onay, Esra Işık, Samim Özen, et al.
Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation
Dilek Uludağ Alkaya, Saliha Yılmaz, Olcay Evliyaoğlu, et al.
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, et al.
The Relationship Between Gestational Diabetes Mellitus and Selenoprotein-P Plasma 1 (SEPP1) Gene Polymorphisms
Gülhan Akbaba, Eren Akbaba, Cem Şahin, et al.
Clinical and Genetic Features of Our Patients with Hypophosphatemic Rickets
Sezer Acar, Roua A. Al-Rijjal, Brian Meyer, et al.
A Novel THRA Gene Mutation in Patient with Thyroid Hormone Resistance
Özlem Korkmaz, Samim Özen, Taha Resid Özdemir, et al.
Investigation of LDLR Gene Mutations in Turkish Patients with Familial Hypercholesterolemia
İlyas Okur, Fatih Süheyl Ezgü, Aslı İnci, et al.
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, et al.
Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types
Nilay Güneş, Tülay Erkan, Tufan Kutlu, et al.
Analysis of THR? Gene in Turkish Patients and Definition of Three Novel Pathogenic Variants
Hakan Gürkan, Mehmet Çelik, Güzin Fidan Yaylalı, et al.
Progeroid Syndrome Patients with ZMPSTE24 Deficiency Could Benefit When Treated with Rapamycin and Dimethylsulfoxide
Barış Akıncı, Shireesha Sankella, Christopher Gilpin, et al.
