Case Report

Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in CYP11B2

• Hande Turan
• Aydilek Dağdeviren Çakır
• Yavuz Özer
• Gürkan Tarçın
• Bahar Özcabi
• Serdar Ceylaner
• Oya Ercan
• Saadet Olcay Evliyaoğlu

Vandetanib in a child affected by neurofibromatosis type 1 and medullary thyroid carcinoma with both NF1 and homozygous RET proto-oncogen germ-line mutations

• Begumhan Demir Gundogan
• Fatih Sagcan
• Sevcan Tug Bozdogan
• Yuksel Balci
• Ferah Tuncel Daloglu
• Elvan Caglar Citak

A Case of Familial Male-Limited Precocious Puberty with a Novel Mutation

• Shilpa Gurnurkar
• Emily DiLillo
• Mauri Carakushansky

TRMT10A mutation in a child with diabetes, short stature, microcephaly and hypoplastic kidneys

• Eve Stern
• Asaf Vivante
• Ortal Barel
• Yael Levy-Shraga

The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23

• Hakan Doneray
• Ayse Ozden
• Kadri Gurbuz

A Novel mutation in the Thyroglobulin Gene resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean infant

• Eve Stern
• Nadia Schoenmakers
• Adeline K. Nicholas
• Eran Kassif
• Orit Pinhas Hamiel
• Yonatan Yeshayahu

Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

• Olcay Evliyaoğlu
• İpek Dokurel
• Feride Bucak
• Bahar Özcabı
• Oya Ercan
• Serdar Ceylaner

Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation

• Emregül Işık
• Hüseyin Demirbilek
• Jayne A. Houghton
• Sian Ellard
• Sarah E. Flanagan
• Khalid Hussain

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey

• Rabia Miray Kışla Ekinci
• Fatih Gürbüz
• Sibel Balcı
• Atıl Bişgin
• Mehmet Taştan
• Bilgin Yüksel
• Mustafa Yılmaz

Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report

• Bülent Hacihamdioğlu
• Elif Gülşah Baş
• Kenan Delil

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation

• Roger Esmel-Vilomara
• Susana Hernández
• Ariadna Campos-Martorel
• Eva González-Roca
• Diego Yeste
• Félix Castillo

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

• Samim Özen
• Tahir Atik
• Özlem Korkmaz
• Hüseyin Onay
• Damla Gökşen
• Ferda Özkınay
• Özgür Çoğulu
• Şükran Darcan

Treatment Difficulties in Hypomagnesemia Secondary to the Transient Receptor Potential Melastatin 6 Gene: A Case Report with Novel Mutation

• Hüsniye Yücel
• Çiğdem Genç Sel
• Çiğdem Seher Kasapkara
• Gülin Karacan Küçükali
• Senay Savas-Erdeve
• Ülkühan Öztoprak
• Serdar Ceylaner
• Saliha Şenel
• Meltem Akçaboy

Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation

• Olcay Evliyaoğlu
• Oya Ercan
• Emel Ataloğlu
• Ümit Zübarioğlu
• Bahar Özcabı
• Aydilek Dağdeviren
• Hande Erdoğan
• Elisa De Franco
• Sian Ellard

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

• Evangelia Gole
• Stavroula Oikonomou
• Sian Ellard
• Elisa De Franco
• Kyriaki Karavanaki

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome

• Xiang Chen
• Huijun Wang
• Bingbing Wu
• Xinran Dong
• Bo Liu
• Hongbo Chen
• Yulan Lu
• Wenhao Zhou
• Lin Yang

A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

• Fatma Dursun
• Serdar Ceylaner

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

• Eda Mengen
• Aynur Küçükçongar Yavaş
• S. Ahmet Uçaktürk

A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome

• Ziqin Liu
• Xiaobo Chen

Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India

• Devi Dayal
• Keerthivasan Seetharaman
• Inusha Panigrahi
• Balasubramaniyan Muthuvel
• Ashish Agarwal

A Case of Cleidocranial Dysplasia with a Novel Mutation and Growth Velocity Gain with Growth Hormone Treatment

• Emine Çamtosun
• Ayşehan Akıncı
• Emine Demiral
• İbrahim Tekedereli
• Ahmet Sığırcı

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

• Joanna Oswiecimska
• Mateusz Dawidziuk
• Tomasz Gambin
• Katarzyna Ziora
• Marta Marek
• Sylwia Rzonca
• D. Lys Guilbride
• Shalini N. Jhangiani
• Anna Obuchowicz
• Alicja Sikora
• James R. Lupski
• Wojciech Wiszniewski
• Pawel Gawlinski

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

• Meliha Demiral
• Hüseyin Demirbilek
• Edip Unal
• Ceren Damla Durmaz
• Serdar Ceylaner
• Mehmet Nuri Özbek

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene

• Edip Unal
• Ruken Yıldırım
• Funda Feryal Taş
• Vasfiye Demir
• Hüseyin Onay
• Yusuf Kenan Haspolat

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

• Edip Unal
• Ruken Yıldırım
• Suat Tekin
• Vasfiye Demir
• Hüseyin Onay
• Yusuf Kenan Haspolat

A Novel Nonsense Mutation of PHF6 in a Female with Extended Phenotypes of Borjeson-Forssman-Lehmann Syndrome

• Xia Zhang
• Yanjie Fan
• Xiaomin Liu
• Ming-Ang Zhu
• Yu Sun
• Hui Yan
• Yunjuan He
• Xiantao Ye
• Xuefan Gu
• Yongguo Yu

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

• Aashish Sethi
• Nicola Foulds
• Sarah Ehtisham
• Syed Haris Ahmed
• Jayne Houghton
• Kevin Colclough
• Mohammed Didi
• Sarah E. Flanagan
• Senthil Senniappan

Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report

• Ahmad Kautsar
• Jan M. Wit
• Aman Pulungan

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism

• Pembe Soylu Ustkoyuncu
• Songül Gokay
• Esra Eren
• Durmus Dogan
• Gokce Yıldız
• Aysegul Yılmaz
• Fatma Turkan Mutlu

A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

• Şükran Poyrazoğlu
• Vivian Hwa
• Firdevs Baş
• Andrew Dauber
• Ron Rosenfeld
• Feyza Darendeliler

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

• Sol Kang
• Young Kyung Kang
• Jun Ah Lee
• Dong Ho Kim
• Jung Sub Lim

Three Siblings with Idiopathic Hypogonadotropic Hypogonadism in a Nonconsanguineous Family: A Novel KISS1R/GPR54 Loss-of-Function Mutation

• Özlem Nalbantoğlu
• Gülçin Arslan
• Özge Köprülü
• Filiz Hazan
• Semra Gürsoy
• Behzat Özkan

IGFA Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment

• Vishesh Verma
• RK Singh

Original Research

Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey

• Berna İmge Aydoğan
• Bağdagül Yüksel
• Mazhar Müslüm Tuna
• Mehtap Navdar Başaran
• Ayşen Akkurt Kocaeli
• Melek Eda Ertörer
• Kadriye Aydın
• Sibel Güldiken
• Yasin Şimşek
• Züleyha Cihan Karaca
• Merve Yılmaz
• Müjde Aktürk
• İnan Anaforoğlu
• Nur Kebapçı
• Cevdet Duran
• Abdullah Taşlıpınar
• Mustafa Kulaksızoğlu
• Alptekin Gürsoy
• Selçuk Dağdelen
• Murat Faik Erdoğan

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis

• Shiguo Liu
• Jian Chai
• Guohua Zheng
• Huichao Li
• Deguo Lu
• Yinlin Ge

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype-phenotype correlation in Turkish children

• Firdevs Baş
• Hülya Kayserili
• Feyza Darendeliler
• Oya Uyguner
• Hülya Günöz
• Memnune Yüksel Apak
• Fatmahan Atalar
• Rüveyde Bundak
• Robert C. Wilson
• Maria I. New
• Bernd Wollnik
• Nurçin Saka

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1

• Leman Damla Kotan
• Charlton Cooper
• Şükran Darcan
• Ian M. Carr
• Samim Özen
• Yi Yan
• Mohammad K. Hamedani
• Fatih Gürbüz
• Eda Mengen
• İhsan Turan
• Ayça Ulubay
• Gamze Akkuş
• Bilgin Yüksel
• A. Kemal Topaloğlu
• Etienne Leygue

Investigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature

• Kenan Delil
• Halil Gürhan Karabulut
• Bülent Hacıhamdioğlu
• Zeynep Şıklar
• Merih Berberoğlu
• Gönül Öçal
• Ajlan Tükün
• Hatice Ilgın Ruhi

Clinicopathological Characteristics of Papillary Thyroid Cancer in Children with Emphasis on Pubertal Status and Association with BRAFV600E Mutation

• Şükran Poyrazoğlu
• Rüveyde Bundak
• Firdevs Baş
• Gülçin Yeğen
• Yasemin Şanlı
• Feyza Darendeliler

Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years

• Wei-Yan Wang
• Yi Sun
• Wen-Ting Zhao
• Tai Wu
• Liang Wang
• Tian-Ming Yuan
• Hui-Min Yu

A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans

• Sema Akçurin
• Doğa Türkkahraman
• Woo-Young Kim
• Erdem Durmaz
• Jae-Gook Shin
• Su-Jun Lee

Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

• Selma Tunç
• Korcan Demir
• Fatma Ajlan Tükün
• Cihan Topal
• Filiz Hazan
• Burcu Sağlam
• Özlem Nalbantoğlu
• Melek Yıldız
• Behzat Özkan

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

• Erdal Eren
• Tuba Edgünlü
• Emre Asut
• Sevim Karakaş Çelik

Case Report

Patient with Mutation in the Matrix Metalloproteinase 2 (MMP2) Gene - A Case Report and Review of the Literature

• Alka V. Ekbote
• Sumita Danda
• Andreas Zankl
• Kausik Mandal
• Tina Maguire
• Kobus Ungerer

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

• Abdullah Çim
• Salih Coşkun
• Orhan Görükmez
• Hatice Yüksel
• Ünal Uluca
• Erminia Di Pietro
• François Plourde
• Nancy Elise Braverman

A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation

• Selvi Gülaşı
• Aytuğ Atıcı
• Yalçın Çelik

Transient Neonatal Diabetes due to a Mutation in KCNJ11 in a Child with Klinefelter Syndrome

• Amanda R. Dahl
• Radhika Dhamija
• Alaa Al Nofal
• Siobhan T. Pittock
• W. Frederick Schwenk
• Seema Kumar

CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia

• Jens Otto Broby Madsen
• Sabrina Sauer
• Bodo Beck
• Jesper Johannesen

Long-Term Follow-Up of a Pseudohypoparathyroidism Type 1A Patient with Missense Mutation (Pro115Ser) in Exon 5

• Şenay Savaş Erdeve
• Merih Berberoğlu
• Zeynep Şıklar
• Olcay Evliyaoğlu
• Olaf Hiort
• Gönül Öcal

Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

• Severine Van Hulle
• Margarita Craen
• Bert Callewaert
• Sjoerd Joustra
• Wilma Oostdijk
• Monique Losekoot
• Jan Maarten Wit
• Marc Olivier Turgeon
• Daniel J. Bernard
• Jean De Schepper

Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene

• Ercan Mıhçı
• Doğa Tu¨rkkahraman
• Sian Ellard
• Sema Akçurin
• İffet Bircan

A Novel Homozygous Mutation in the Transient Receptor Potential Melastatin 6 Gene: A Case Report

• Ayça Altıncık
• Karl Peter Schlingmann
• Mahya Sultan Tosun

Early Onset of Liver Steatosis in a Japanese Girl with Maturity-Onset Diabetes of the Young Type 3 (MODY3)

• Akie Nakamura
• Katsura İshidu
• Toshihiro Tajima

Permanent Neonatal Diabetes Mellitus: Same Mutation, Different Glycemic Control with Sulfonylurea Therapy on Long-Term Follow-up

• Banu Küçükemre Ay
• Rüveyde Bundak
• Firdevs Baş
• Hülya Maraş
• Nurçin Saka
• Hülya Günöz
• Feyza Darendeliler

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome

• Hakan Döneray
• Takeshi Usui
• Avni Kaya
• Ayşe Sena Dönmez

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

• Emine Çamtosun
• Sarah E. Flanagan
• Sian Ellard
• Zeynep Şıklar
• Khalid Hussain
• Pınar Kocaay
• Merih Berberoğlu

Novel Mutation in the SLC19A2 Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia: A Series of Three Cases

• Nosrat Ghaemi
• Martha Ghahraman
• Mohammad Reza Abbaszadegan
• Alireza Baradaran-Heravi
• Rahim Vakili

Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3

• Hüseyin Anıl Korkmaz
• Filiz Hazan
• Ceyhun Dizdarer
• Ajlan Tükün

A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism

• Xiao Zheng
• Shao-Gang Ma
• Ya-Li Qiu
• Man-Li Guo
• Xiao-Juan Shao

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

• Cemil Koçyiğit
• Serdar Sarıtaş
• Gönül Çatlı
• Hüseyin Onay
• Bumin Nuri Dündar

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

• Asma Deeb
• Hana Al Suwaidi
• Fakunle Ibukunoluwa
• Salima Attia

A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient

• Chutintorn Sriphrapradang
• Yotsapon Thewjitcharoen
• Suwannee Chanprasertyothin
• Soontaree Nakasatien
• Thep Himathongkam
• Objoon Trachoo

Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene

• Bahar Özcabı
• Feride Tahmiscioğlu Bucak
• Serdar Ceylaner
• Rahşan Özcan
• Cenk Büyükünal
• Oya Ercan
• Beyhan Tüysüz
• Olcay Evliyaoğlu

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

• Nusrat Khan
• Waleed Dandan
• Noura Al Hassani
• Suha Hadi

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene

• Ayfer Alikaşifoğlu
• Doğuş Vurallı
• Olaf Hiort
• Nazlı Gönç
• Alev Özön
• Nurgün Kandemir

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene

• Monica Gabbay
• Sian Ellard
• Elisa De Franco
• Regina S. Moisés

Congenital Central Hypothyroidism Caused by a Novel Thyroid-Stimulating Hormone-Beta Subunit Gene Mutation in Two Siblings

• Bayram Özhan
• Özlem Boz Anlaş
• Bilge Sarıkepe
• Burcu Albuz
• Nur Semerci Gündüz

Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia

• Anna Papadopoulou
• Evangelia Gole
• Katerina Melachroinou
• Christos Meristoudis
• Tania Siahanidou
• Anastasios Papadimitriou

A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

• Gül Yeşiltepe Mutlu
• Heves Kırmızıbekmez
• Akie Nakamura
• Maki Fukami
• Şükrü Hatun

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

• Banu Güzel Nur
• Gamze Çelmeli
• Esra Manguoğlu
• Erdoğan Soyucen
• İffet Bircan
• Ercan Mıhçı

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

• Fatma Dursun
• Hussein Sheikh Ali Mohamoud
• Noreen Karim
• Muhammad Naeem
• Musharraf Jelani
• Heves Kırmızıbekmez

A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

• Sevim Ünal
• Deniz Gönülal
• Ahmet Uçaktürk
• Betül Siyah Bilgin
• Sarah E. Flanagan
• Fatih Gürbüz
• Meltem Tayfun
• Selin Elmaoğulları
• Aslıhan Araslı
• Fatma Demirel
• Sian Ellard
• Khalid Hussain

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

• Dagmar Prochazkova
• Zuzana Hruba
• Petra Konecna
• Jarmila Skotakova
• Lenka Fajkusova

A Case of Vitamin D-Dependent Rickets Type 1A with a Novel Mutation in the Uzbek Population

• Bahar Özcabı
• Feride Tahmiscioğlu Bucak
• Sevinç Jaferova
• Çiğdem Oruç
• Amra Adrovic
• Serdar Ceylaner
• Oya Ercan
• Olcay Evliyaoğlu

Original Article

Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

• Fatih Gürbüz
• L. Damla Kotan
• Eda Mengen
• Zeynep Şıklar
• Merih Berberoğlu
• Sebila Dökmetaş
• Mehmet Fatih Kılıçlı
• Ayla Güven
• Birgül Kirel
• Nurçin Saka
• Şükran Poyrazoğlu
• Yaşar Cesur
• Murat Doğan
• Samim Özen
• Mehmet Nuri Özbek
• Hüseyin Demirbilek
• M. Burcu Kekil
• Fatih Temiz
• Neslihan Önenli Mungan
• Bilgin Yüksel
• Ali Kemal Topaloğlu

Case Reports

Two Siblings with Isolated GH Deficiency Due to Loss-of-Function Mutation in the GHRHR Gene: Successful Treatment with Growth Hormone Despite Late Admission and Severe Growth Retardation

• Zeynep Şıklar
• Merih Berberoğlu
• Maria Legendre
• Serge Amselem
• Olcay Evliyaoğlu
• Bülent Hacıhamdioğlu
• Şenay Savaş Erdeve
• Gönül Öçal

Sporadic Nonautoimmune Neonatal Hyperthyroidism Due to A623V Germline Mutation in the Thyrotropin Receptor Gene

• Zehra Aycan
• Sebahat Yılmaz Ağladıoğlu
• Serdar Ceylaner
• Semra Çetinkaya
• Veysel Nijat Baş
• Havva Nur Peltek Kendirici

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

• Tamar Lubell
• Maria Garzon
• Kwame Anyane-Yeboa
• Bina Shah