E-ISSN: 1308-5735 ISSN: 1308-5727

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Volume 7, Issue 2

September 2015

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Editorial

Candeğer Yılmaz

Other

The Usage of Genetic Technologies in Endocrine Diseases

Ferda Özkınay

Diabetes from the Clinician Perspective

Şevki Çetinkalp

Approach to Monogenic Diabetes

Diabetes and Our Genes

Endocrine Disrupters and Epigenetics

Özgür Çoğulu

Vitamin D in Sickness and Health

Zeliha Hekimsoy

Clinical Approach to Thyroid Cancer and Nodules

Mehmet Erdoğan

Genetic Approach to Thyroid Nodules and Cancer

Difficulties in the Clinical Approach to Disorders of Sexual Development: Role of the Genes in the Approach

Merih Berberoğlu

Genetic Mechanisms of Sex Development and New Approaches

Hatice Ilgın Ruhi

Clinical and Genetic Approach to Lipodystrophies

Barış Akıncı

A Pediatric Case with Congenital Generalized Lipodystrophy

Familial Acromegaly

Genetics in Pituitary Short Stature

Clinical and Genetics Approaches to Hypogonadotropic Hypogonadism

Ali Kemal Topaloğlu

Clinical Findings of Osteoporosis

Genetic Approach to Osteoporosis

A Case of Dyskeratosis Congenita Associated with Hypothyroidism and Hypogonadism

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

Gülsen Kandiloğlu

A. Gökhan Özgen

Ferda Özkınay

L. Füsun Saygılı

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

Melanocortin-4 Receptor Mutation and Obesity

Ilgın Yıldırım Şimşir

Mehmet Erdoğan

A. Gökhan Özgen

L. Füsun Saygılı

Şükran Darcan

Candeğer Yılmaz

Şevki Çetinkalp

Multiple Endocrine Neoplasia Type 4 (MEN4) Syndrome

Ilgın Yıldırım Şimşir

Murat Sözbilen

Mehmet Erdoğan

Şevki Çetinkalp

L. Füsun Saygılı

Candeğer Yılmaz

A. Gökhan Özgen

Two Siblings with Congenital Hyperinsulinism - Homozygote and Heterozygote Mutation

Nursel Muratoğlu Şahin

Sibel Tulgar Kınık

Investigation of Genes That are Defined with New Generation Sequence Analysis in Children/Adolescents Followed with Maturity Onset Diabetes of the Young

Gönül Çatlı

Hüseyin Anıl Korkmaz

Ayça Altıncık

Ediz Yeşilkaya

Hale Ünver Tuhan

Sefa Kızıldağ

An Early Spontaneous Recovery in a Hyperinsulinemia and Hypoglycemia Case with a Recently Found Mutation on the Gene ABCC8

Gönül Çatlı

The Case of Transient Neonatal Diabetes Mellitus Associated with 6q24

Şükran Darcan

Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome

Banu Sarer Yürekli

Nilüfer Özdemir Kutbay

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

Ferda Özkınay

L. Füsun Saygılı

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

Mehmet Erdoğan

Şevki Çetinkalp

A.Gökhan Özgen

L. Füsun Saygılı

A Case of Polyglandular Autoimmune Syndrome Type One with Hypercalcemia and Hypotension

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

L. Füsun Saygılı

Şükran Darcan

A. Gökhan Özgen

Features of Nine Adult Cases of Osteogenesis Imperfecta

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

L. Füsun Saygılı

Heterozygous AGPAT2 Mutation, Diabetes, and Lipodystrophy in Extremities

Ilgın Yıldırım Şimşir

Barış Akıncı

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

Candeğer Yılmaz

L. Füsun Saygılı

A Long Follow-Up of a Juvenile Case with Adrenal Cortical and Medullary Hyperplasia

Havva Nur Peltek Kendirci

Elena Belyavskaya

Constantine Astratakis

Application of Next-Generation Sequencing Technology for CFTR Mutation Screening

Ülfet Vatansever

A Hypogonadotropic Hypogonadism Case as a Consequence of GNRHR Mutation

Nurullah Çelik

Hamdi Cihan Emeksiz

Ali Kemal Topaloğlu

A New Mutation on the SFR1 (NR5A1) Gene in a 46 XY Sexual Development Disorder Case without the Adrenal Deficiency

Gönül Çatlı

Hale Ünver Tuhan

Mozaic Turner Syndrome and Precocious Puberty Association: A Three-Year-Old Patient

Pınar Kiper Mısırlıoğlu

A Rare GCMB Gene Mutation in an Isolated Hypoparathyroidism Case

Ferda Özkınay

An Obese Case with Homozygous Leptin Receptor Mutation

Johanne Le Bihan

Karine Clément

Magnetic Resonance Imaging Characteristics of a Dunnigan-Type Familial Partial Lipodystrophy Patient

Nilüfer Özdemir Kutbay

Banu Sarer Yürekli

Barış Akıncı

Mehmet Erdoğan

Şevki Çetinkalp

A. Gökhan Özgen

L. Füsun Saygılı

A Case of Hypocalciuric Hypercalcemia Accompanying Cystic Fibrosis

Sevil Arı Yuca

Neonatal Diabetes Mellitus due to a Novel Mutation in the GATA6 Gene Accompanying Renal Dysfunction: A Case Report

Hale Ünver Tuhan

Gönül Çatlı

Mehmet Türkmen

Genetic Analysis of Lipodystrophies and Recently Found Mutations

Barış Akıncı

The Role of Adiponectin During Placental Development in Streptozotocin-Induced Rats

Dijle Kipmen Korgun

Ayşegül Erdoğan

Emin Turkay Korgun

Investigation of CYP21A2 Gene Variants in Patients Pre-diagnosed with Congenital Adrenal Hyperplasia

Havva Nur Peltek Kendirci

46,XY Complete Gonadal Dysgenesis: A Case Report

Hüseyin Anıl Korkmaz

Özlem Nalbantoğlu Elmas

Screening of PROP-1, LHX2, and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland

Hüseyin Anıl Korkmaz

Utku Karaarslan

Vatan Barışık

Emine Sevcan Ata

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

Sacide Pehlivan

Wolfram (DIDMOAD) Syndrome - Report of Two Siblings

Sibel Tulgar Kınık

VDR Gene Analysis of Four Patients with Hereditary 1,25 Dihydroxyvitamin D-Resistant Rickets

Esra Deniz Papatya Çakır

Özgür Aldemir

Seyit Ahmet Uçaktürk

A Case of Odontohypophosphatasia and Family Investigation

Esra Deniz Papatya Çakır

Seyit Ahmet Uçaktürk

Two Siblings with Mutation in the Leptin Receptor Gene

Bülent Hacıhamdioğlu

Naseebullah Kakar

Duygu Hacıhamdioğlu

Ferhan Karademir

Selami Süleymanoğlu

Investigation of BRAF Hotspot Mutations in Papillary Thyroid Tumor Samples

Sibel Güldiken

Abdominal Obesity May Be Caused by Increasing Cortisol Levels with Age

Cüneyt Müderrisoğlu

Esma Altunoğlu

Wolfram Syndrome: Presentation of Two Cases with Type One and Type Two Diabetes Mellitus

Gülşah Y. Yalın

Sirhan Emiksiyev

Seher Tanrıkulu

Ayşe Kubat Üzüm

A Case of Pycnodysostosis with Bilateral Choanal Atresia

Ceren Damla Durmaz

Ömer Suat Fitöz

Hatice Ilgın Ruhi

H Syndrome: A Rare Monogenic Cause of Insulin-Dependent Diabetes Mellitus

Vered Molho-Pessach

Abraham Zlotogorski

Abdullah Bereket

Three Male Cases with Isodicentric Y Chromosome Mosaicism Including 45,X Cell Line

Hatice Ilgın Ruhi

Microcephalic Osteodysplastic Primordial Dwarfism Type Two

Pınar İşgüven

Nursel Elçioğlu

Central Precocious Puberty in a Patient with Multiple Pituitary Hormone Deficiency Due to POU1F1 (PIT1) Gene Mutation

Zehra Yavaş Abalı

Şükran Poyrazoğlu

Rüveyde Bundak

Feyza Darendeliler

A Rare Presentation of Friedreich’s Ataxia in Pediatric Case: Diabetes Mellitus

Dilşad Türkdoğan

Abdullah Bereket

Hypoparathyroidism-Deafness-Renal Disease Syndrome: The First Case Report from Turkey

Ayşe Sena Dönmez

Thyroid Hemiagenesis: A Case Report

Belma Haliloğlu

Prevalence and Molecular Characteristics of Y Chromosome Microdeletions in Infertile Males: A Single-Center Study

Ayşe Nur Kavasoğlu

Ferda Özkınay

A Further Case of Hajdu-Cheney Syndrome Having a Novel Mutation in the NOTCH2 Gene

Ayşe Nur Kavasoğlu

Ferda Özkınay

A Case with Acrodysostosis and Hormone Resistance

Korcan Demircan Sezer

Özgür Kırbıyık

Özlem Nalbantoğlu Elmas

Hüseyin Anıl Korkmaz

A Case of Thyroid Hormone Resistance

Ruken Yıldırım

Yusuf Kenan Haspolat

Genetic Diagnosis Using Whole Exome Analysis in Two Cases with Malignant Infantile Osteopetrosis

Özlem Nalbantoğlu Elmas

Hüseyin Anıl Korkmaz

Tamoxifen Treatment for Pubertal Gynecomastia in a Patient with Partial Androgen Insensitivity Syndrome

Zeynep Şıklar

Hatice Ilgın Ruhi

Emine Çamtosun

Merih Berberoğlu

A Case of Mosaic 45,X/46,XY Infertile Man with an AZF Deletion

Pelin Taşdemir

Özgür Balasar

Genetic Analysis in Our Cases with Thyroid Dysgenesis

Filiz Mine Çizmecioğlu

Gül Yeşiltepe Mutlu

Ayşegül Yüksel

A Case of Type 1 Diabetes Mellitus with Klinefelter’s Syndrome

Sibel Tulgar Kınık

A Rare Genetic Disorder: Partial Trisomy on Chromosome 21

Gül Yeşiltepe Mutlu

Heves Kırmızıbekmez

Arda Çetinkaya

An Infantile Hypophosphatasia Patient with a Homozygous Mutation in the ALPS Gene

Banu Güzel Nur

Erdoğan Soyuçen

A Case of Achondrogenesis Type 2/Hypochondrogenesis Due to a De Novo Mutation in the COL2A1 Gene

Gönül Çatlı

Hale Ünver Tuhan

Niema A. İbrahim

Fowzan Sami Alkuraya

Seven Cases of Williams-Beuren Syndrome: Endocrine Evaluation and Long-Term Follow-Up

Multiple Pituitary Hormone Deficiency Associated with Pituitary Hyperplasia: A Case Report

Mikayir Genenş

Zehra Yavaş Abalı

Şükran Poyrazoğlu

Rüveyde Bundak

Feyza Darendeliler

Phenotype-Genotype Correlations in Bardet-Biedl Syndrome Patients with Molecular Analysis

Aslı Ece Solmaz

Meltem Cerrah Güneş

Özge Özalp Yüreğir

Veysel Nijat Baş

Özgür Kırbıyık

Osteogenesis Imperfecta Presenting with Fractures in Pregnancy or Lactation Period: Report of Three Cases

Seher Tanrıkulu

Gülşah Yenidünya Yalın

Özlem Soyluk Selçukbiricik

Ayşe Kubat Üzüm

Crouzon Syndrome with Hypoplasia of Corpus Callosum and Inferior Vermis

Serdar Ceylaner

Ali Kemal Topaloğlu

Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis

Özge Özalp Yüreğir

Serdar Ceylaner

Ali Kemal Topaloğlu

Complete Androgen Insensitivity Syndrome; the Importance of Family Screening

Ruken Yıldırım

Yusuf Kenan Haspolat

Didem Helvacıoğlu

Wolcott-Rallison Syndrome

Ali Kemal Topaloğlu

Different Genotypes in Prader-Willi Syndrome

Yasemin Kendir Demirkol

Gülşen Akay Tayfun

Huriye Nursel Elçioğlu

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

Successful Transfer from Insulin to Oral Sulphonylurea in an Infant and His Mother with Monogenic Diabetes Due to a Heterozygous Missense Mutation in the ABCC8 Gene

Mehmet Nuri Özbek

Hüseyin Demirbilek

Sibel Tanrıverdi

Ved Bhushan Arya

Sarah E. Flanagan

Efficacy and Safety of Sirolimus (mTOR Inhibitor) in Two Patients with Diazoxide-Unresponsive Hyperinsulinemic Hypoglycemia

Gülay Can Yılmaz

Hüseyin Demirbilek

Sarah E. Flanagan

A Preliminary Study of the Possible Role of Cannabinoid Receptor-1 (CNR1) Gene Polymorphisms in the Development of Morbid Obesity in Obese Children

Nilgün Çöl Araz

Sibel Oğuzkan Balcı

Sacide Pehlivan

Growth Hormone Treatment in an Adolescent with Pycnodysostosis

Gülay Can Yılmaz

Genotype-Phenotype Correlation of Congenital Adrenal Hyperplasia Cases Having Complex (Multiple) Mutation Detected in CYP21A2 Gene

Hüseyin Anıl Korkmaz

Şükran Darcan

Ferda Özkınay

Four Cases of SCD (Jarcho-Levin Syndrome) Presenting with Short Stature

Gülşen Akay Tayfun

Huriye Nursel Elçioğlu

A Case with Infantile-Onset Pancytopenia and Hyperglycemia Associated with SLC19A2 Mutation

Nagehan Katipoğlu

Tuba Hilkay Karapınar

Sultan Aydın Köker

Özlem Nalbantoğlu

Hüseyin Anıl Korkmaz

Genetic Analysis of Lipodystrophies and Novel Mutations

Barış Akıncı

RET Mutation Spectrum in Turkish Cases with Medullary Thyroid Carcinoma: Definition of a Novel K710R Mutation

İsmihan Merve Tekin

Mehmet Erdoğan

Ferda Özkınay

Genotype-Phenotype Correlation and Follow-Up Features in Cases with Congenital Hyperinsulinism (CHI)

Özge Altun Köroğlu

Şükran Darcan

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

İsmihan Merve Tekin

Özgür Çoğulu

Şükran Darcan

Ferda Özkınay

Familial Partial Lipodystrophy Linked to aNovel Peroxisome Proliferator-Activated Receptor -? (PPARG) Mutation, H449L

David B. Savage

Ayşe Kubat Kuruüzüm

Şenay Savaş Erdeve

Barış Akıncı

A Family with Multiple Endocrine Neoplasia Type 2A: Importance of Early Prophylactic Thyroidectomy

Gönül Çatlı

Cemil Koçyiğit

Bumin Nuri Dündar