Case Report

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

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, Who Had Congenital Hypothyroidism as the First Manifestation

• Somboon Wankanit
• Pat Mahachoklertwattana
• Thipwimol Tim-Aroon
• Kinnaree Sorapipatcharoen
• Preamrudee Poomthavorn

Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH

• Jesús Barreiro
• Jóse Ramón Alonso-Fernández
• Lidia Castro-Feijoo
• Cristóbal Colón
• Paloma Cabanas
• Claudia Heredia
• Luis Antonio Castaño
• Carmen Gómez-Lado
• M.Luz Couce
• Manuel Pombo

Original Article

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

• Chang-Run Zhang
• Yuan-Ping Shi
• Cao-Xu Zhang
• Feng Sun
• Wen-Jiao Zhu
• Rui-Jia Zhang
• Ya Fang
• Qian-Yue Zhang
• Chen-Yan Yan
• Ying-Xia Ying
• Shuang-Xia Zhao
• Huai-Dong Song

Developmental Defects of the Thyroid Gland: Relationship with Advanced Maternal Age

• Heves Kırmızıbekmez
• Ayla Güven
• Metin Yıldız
• Ayşe Nurcan Cebeci
• Fatma Dursun

Epidemiology of Congenital Hypothyroidism in Markazi Province, Iran

• Fatemeh Dorreh
• Parsa Y. Chaijan
• Javad Javaheri
• Ali Hossein Zeinalzadeh

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism

• Hakan Cangül
• Murat Doğan
• Yaman Sağlam
• Michaela Kendall
• Kristien Boelaert
• Timothy G Barrett
• Eamonn R Maher

The Role of Initial Clinical and Laboratory Findingsin Infants With Hyperthyrotropinemia to PredictTransient or Permanent Hypothyroidism

• Tolga Ünüvar
• Korcan Demir
• Ayhan Abacı
• Atilla Büyükgebiz
• Ece Böber

Cases Referred from the Turkish National Screening Program: Frequency of Congenital Hypothyroidism and Etiological Distribution

• Zeynep Donbaloğlu
• Şenay Savaş-Erdeve
• Semra Çetinkaya
• Zehra Aycan

Basal Serum Thyroxine Level should Guide Initial Thyroxine Replacement Dose in Neonates with Congenital Hypothyroidism

• Ceren Günbey
• Alev Özön
• E. Nazlı Gönç
• Ayfer Alikaşifoğlu
• Sevilay Karahan
• Nurgün Kandemir

Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism

• Muhammet Asena
• Meliha Demiral
• Edip Unal
• Murat Öcal
• Hüseyin Demirbilek
• Mehmet Nuri Özbek

Cardiac Function in Newborns with Congenital Hypothyroidism: Association with Thyroid-Stimulating Hormone Levels

• Taliha Öner
• Rahmi Özdemir
• Önder Doksöz
• Yılmaz Yozgat
• Cem Karadeniz
• Savaş Demirpençe
• Murat Muhtar Yılmazer
• Muammer Büyükinan
• Timur Meşe
• Vedide Tavlı

A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family

• Hakan Cangül
• Murat Doğan
• Duran Üstek

Case Report

Synchronous Occurrence of Papillary Carcinoma in the Thyroid Gland and Thyroglossal Duct in an Adolescent with Congenital Hypothyroidism

• Zeynep Şıklar
• Merih Berberoğlu
• Aydın Yağmurlu
• Bülent Hacıhamdioğlu
• Şenay Savaş Erdeve
• Suat Fitöz
• Metin Kır
• Gönül Öçal

Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo-Pendred Syndrome?

• Cengiz Kara
• Mehtap Kılıç
• Ahmet Uçaktürk
• Murat Aydın

Congenital Hypothyroidism Due To Maternal Radioactive Iodine Exposure During Pregnancy

• Selim Kurtoğlu
• Mustafa Ali Akın
• Ghaniya Daar
• Leyla Akın
• Şeyma Memur
• Levent Korkmaz
• Osman Baştuğ
• Selcan Yılmaz

Unusual Course of Congenital Hypothyroidism and Route of the L-Thyroxine Treatment in a Preterm Newborn

• Levent Korkmaz
• Mustafa Ali Akın
• Tamer Güneş
• Ghaniya Daar
• Osman Baştuğ
• Ali Yıkılmaz
• Selim Kurtoğlu

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

The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism

• Hakan Cangül
• Korcan Demir
• H. Ömür Babayiğit
• Ayhan Abacı
• Ece Böber

Case Reports

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

• Mustafa Ali Akın
• Tamer Güneş
• Leyla Akın
• Dilek Çoban
• Sena Kara Oncu
• Aslıhan Kiraz
• Selim Kurtoğlu

Neonatal Sludge: A finding of congenital hypothyroidism

• Selim Kurtoğlu
• Dilek Çoban
• Mustafa Ali Akın
• Leyla Akın
• Ali Yıkılmaz

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

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

Review

Update on Some Aspects of Neonatal Thyroid Disease

• Tamar Simpser
• Robert Rapaport