Archives - Journal of Clinical Research ın Pediatric Endocrinology

Poster Bildiriler 58

Free Communications 13

Editörden

Ferda Özkınay

Şükran Darcan

Füsun Saygılı

Poster Bildiriler

Parental View on the Terminology of Disorders of Sex Development

İsmail Yağmur

Şükran Darcan

Late-Onset Congenital Adrenal Hyperplasia Diagnosed at 53 Years of Age

Emre Sedar Saygılı

Feyza Yener Öztürk

Rümeysa Selvinaz Erol

Belgin Eroğlu Kesim

Seda Erem Basmaz

Sezin Doğa Çakır

Yüksel Altuntaş

8Q22.3-Q24.23 Duplication: A Case Report

Hande Küçük Kurtulgan

Malik Ejder Yıldırım

CYP11A1 Mutations Result in Various Clinical Phenotypes

Federica Buonocore

A Male Case of Aromatase Deficiency with a Novel CYP19A1 Mutation

Ayşegül Atmaca

Lucia Gagliardi

Engin Altundağ

Ömer Salih Akar

ilkay Koray Bayrak

The Role of Adenovirus Serotype 36 in Childhood Obesity

Tamer Şanlıdağ

Burçin Şanlıdağ

Rüveyde Bundak

Nerin Bahçeciler Önder

Heterozygous p.D61G Mutation in a Patient with Noonan Syndrome

Hüseyin Anıl Korkmaz

Gene Conversion and Congenital Adrenal Hyperplasia: Two Case Reports

Beray Selver Eklioğlu

Pelin Taşdemir

Mehmet Emre Atabek

A Case of Congenital Generalized Lipodystrophy Type 2 with Novel BSCL2 Gene Mutation

Ali Kemal Topaloğlu

A New Mutation in an Infant with Hypercalcemia

Sevinç Odabaşı Güneş

Ayça Törel Ergür

An Infant with Leydig Cell Hypoplasia Presenting with Bilateral Inguinal Masses

Fatma Ö. Çömlek

Serdar Ceylaner

Filiz Tütüncüler

A Rare Cause of Insulin-Dependent Diabetes: Two Siblings with Walcott-Rallison Syndrome

Özgecan Demirbaş

Incidentally Detected Monogenic Diabetes Case

Ömercan Topaloğlu

İbrahim Şahin

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

Isolated Hypoaldosteronism: A Case Report

Leman Damla Kotan

Ali Kemal Topaloğlu

Evaluation of the Response to the First Two Years of Growth Hormone Treatment in Kabuki Make-Up Syndrome

Banu Güzel Nur

Major Depression and Fabry Disease: A Case Report

Zeynel Abidin Sayıner

Two Cases of Klinefelter Syndrome

Hatice Özışık

Banu Sarer Yürekli

Nilüfer Özdemir Kutbay

Mehmet Erdoğan

Şevki Çetinkalp

Füsun Saygılı

A Novel Mutation in a Patient with 5-a Reductase Deficiency Reared as Girl

Hüseyin Anıl Korkmaz

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

Non-Genetic Factors Altering Birth and Fertility Rates

Two Siblings with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II)

Emregül Işık

A Rare Genodermatosis: H Syndrome

Düriye Sıla Karagöz Özen

Mehmet Derya Demirağ

Hacer PInar Öztürk

A. Gülhan Ercan Sençiçek

Ahmet Okay Çağlayan

A Rare Cause of Obesity: ROHHAD Syndrome

Gülay Can Yılmaz

Filiz Serdaroğlu

Haydar Ali Taşdemir

Osteogenesis Imperfecta: Case Report

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Hatice Özışık

PROP1-Related Combined Pituitary Hormone Deficiency: Case Report

New Chromosomal ins(6;7)(Q13:P22) Anomaly in Klinefelter Syndrome Detected Coincidentally in Patient with Signs of Primary Hypogonadism

Ömercan Topaloğlu

İbrahim Şahin

A Case of 46,XX DSD Due to a Novel Mutation in P450 Oxidoreductase Gene

Alper Gezdirici

Abdurrahman Akgün

Beyza Belde Doğan

Schmid Type of Metaphyseal Chondrodysplasia with COL10A1 Mutation

Emine Ayça Cimbek

Sevil Arı Yuca

A Case Report of Seckel Syndrome

Hatice Özışık

Banu Sarer Yürekli

Füsun Saygılı

A Case of Marfan Syndrome Presenting with Transverse Striae of the Back

Hüseyin Anıl Korkmaz

Monogenic Diabetes Case Presented with Symptomatic Hyperglycemia and Atypical Mutation

Ömercan Topaloğlu

İbrahim Şahin

Case Report of Leri-Weill Dyscontrosteosis Caused By SHOX Gene Deletion

Emel Hatun Aytaç Kaplan

Diagnostic Algoritm in Two Different Cases with Subclinical Endocrinologic Problems

Ayça Törel Ergür

Sevinç Odabaşı Güneş

A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive MODY

Taha Resid Özdemir

Berk Özyılmaz

Hepatic Glycogenosis in a Patient with Type 1 Diabetes: Mauriac Syndrome vs. Congenital Glycogen Storage Disease

Ömercan Topaloğlu

Sibel Demiral Sezer

Abdullah Serkan Yener

Two Cases of Testicular Adrenal Rest Tumor (TART)

Hatice Özışık

Banu Şarer Yürekli

Ilgin Yıldırım Şimşir

Banu Sarsık Kumbaraci

Füsun Saygılı

A Case of Vanishing Testis Syndrome

Hüseyin Anıl Korkmaz

A Novel Mutation in INSR Gene in a Child Presenting with Acanthosis Nigricans

Serdar Ceylaner

Özlem Nalbantoğlu

Thyroid Hormone Resistance P453A Mutation

Aylin Kilinç Ugurlu

Emine Demet Akbaş

Orhun Çamurdan

Williams Syndrome Associated with Isolated Growth Hormone Deficiency: Is It Just a Coincidence?

Hatice Yelda Yalçın

Ayşegül Yılmaz

Engin Altundağ

Warburg Micro Syndrome: A New Case from Consanguineous Parents

A Novel Mutation in AMHR2 Gene in Two Siblings with Persistent Müllerian Duct Syndrome

Aydilek Dağdeviren Çakır

Beyhan Tüysüz

Saadet Olcay Evliyaoğlu

Atypical LMNA Mutation in EXON 11 Associated with a Milder Clinical Outcome in Dunnigan-Type Familial Partial Lipodystrophy

Başak Özgen Saydam

Ilgın Yıldırım Şimşir

Barış Akıncı

POU1F1 and PROP1 Gene Mutations in 4 Cases of Combined Pituitary Hormone Deficiency

Bilçağ Akgün

Zehra Karademir

Şükran Darcan

Muammer Büyükinan

Ferda Özkınay

A Case of SHOX Gene Deletion Diagnosed By Microarray

Erhan Parıltay

Özgür Çoğulu

Ferda Özkınay

HOXC4 Gene is Possibly Responsible for Lin-Gettig Syndrome

Bilçağ Akgün

Özgür Çoğulu

Sümeyra Savaş

Ferda Özkınay

The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations

Bilçağ Akgün

Yaşar Bekir Kurtbay

Ferda Özkınay

FGFR2 Gene Mutations in Patients with Syndromic or Isolated Craniosynostosis

Emine Ipek Ceylan

Asli Ece Solmaz

Beyhan Tüysüz

Meltem Cerrah Günes

Belma Özlem Tural Balsak

Alpaslan Kemal Tuzcu

Mutation Spectrum of GCK, HNF1A, and HNF1B in MODY Patients and 40 Novel Mutations

Ferda Özkınay

Damla Gökşen Şimşek

Anthropometric Measurements and Complications of Achondroplasia Patients

Şükran Darcan

Ayşenur Kavasoğlu

Damla Gökşen Şimşek

Özgür Çoğulu

Ferda Özkınay

A Novel HESX1 Mutation in a Case with Panhypopituitarism

Aslı Ece Solmaz

Investigation of Androgen Receptor Gen Mutation Spectrum in the Turkish Patients with Disorder of Sex Development

Tuba Sözen Türk

Şükran Darcan

Olcay Evliyaoğlu

Gönül Çatlı

Homozygous SHOX Gene Deletion Detected by Array-CGH in a Girl with Langer Mesomelic Dysplasia

Bilge Nihan Satkin

Umut Altunoğlu

Four 46,XY DSD Cases with Novel Mutations in AR and SRD5A2 Genes

Agharza Aghayev

Umut Altunoğlu

Şükran PoyrazoĞlu

Feyza Darendeliler

Hülya Kayserili

PTPN11, SOS1, and BRAF Gene Mutation Spectrum in RASopathies in Molecular Diagnosis

Semih Aşıkovalı

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

Six 11-Beta Hydroxylase Deficiency Patients: Identification of Two Novel Mutations

Ayşe Nur Kavasoğlu

Ilgın Yıldırım Şimşir

Banu Sarer Yürekli

İbrahim Başol

Şükran Darcan

Ferda Özkınay

17-Hydroxylase Deficiency: Rare Cause of Delayed Puberty

Investigation of Association Between Paraoxonase-1 L55M (RS854560) and Q192R (RS662) Polymorphisms and Potential Atherosclerotic Risk Factors in PCOS Patients

Hatice Sevim Nalkıran

İhsan Nalkıran

Ali İrfan Güzel

Tuğba Durakoğlugil

Hyperandrogenism and Skeletal Dysplasia: Evaluation of 7 Patients with PAPSS2 Gene Mutation

Dilek Uludağ Alkaya

Olcay Evliyaoğlu

Beyhan Tüysüz

The Relationship Between Gestational Diabetes Mellitus and Selenoprotein-P Plasma 1 (SEPP1) Gene Polymorphisms

Clinical and Genetic Features of Our Patients with Hypophosphatemic Rickets

Roua A. Al-Rijjal

Walaa E. Kattan

Gönül Çatlı

A Novel THRA Gene Mutation in Patient with Thyroid Hormone Resistance

Taha Resid Özdemir

Şükran Darcan

Hyperinsulinemic Hypoglycemia Due to Homozygous C.706 C>T (P. R236X) Mutation in 3 Siblings: Presentation with Resistant Epilepsy

Elisa De Franco

Ufuk Utku Güllü

Sarah E. Flanagan

Hüseyin Demirbilek

Investigation of LDLR Gene Mutations in Turkish Patients with Familial Hypercholesterolemia

Fatih Süheyl Ezgü

Asburçe Bike Olgaç

Muscular Type Lipodystrophy Diagnosed with Neonatal Findings: Berardinelli-Seip Congenital Lipodystrophy Type 4 and Comparison Between the Types

Ferda Özkınay

Beyhan Tüysüz

Analysis of THR? Gene in Turkish Patients and Definition of Three Novel Pathogenic Variants

Güzin Fidan Yaylalı

Mustafa Çalışkan

Ruken Yıldırım

Buket Yılmaz Bülbül

Progeroid Syndrome Patients with ZMPSTE24 Deficiency Could Benefit When Treated with Rapamycin and Dimethylsulfoxide

Barış Akıncı

Shireesha Sankella

Christopher Gilpin

Anıl K. Agarwal