Case Report

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
  • Steven Ghanny
  • Aliza Zidell
  • Helio Pedro
  • Sjoerd D. Joustra
  • Monique Losekoot
  • Jan M. Wit
  • Javier Aisenberg
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2020.2020.0125 PMID:33045800
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
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2021.2020.0278 PMID:33832185
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
J Clin Res Pediatr Endocrinol 0; 0: 0-0 [e-Pub] DOI: 10.4274/jcrpe.galenos.2021.2021.0141 PMID:34327978
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
J Clin Res Pediatr Endocrinol 2011; 3: 208-211 DOI: 10.4274/jcrpe.448 PMID:22155464
Hypoprolactinemia as a Clue to Diagnosis of Mild Central Hypothyroidism due to IGSF1 Deficiency
  • Anastasios Papadimitriou
  • Anna Papadopoulou
  • Kleanthis Kleanthous
  • Dimitrios T. Papadimitriou
  • Vassiliki Papaevangelou
J Clin Res Pediatr Endocrinol 2020; 12: 218-222 DOI: 10.4274/jcrpe.galenos.2019.2019.0085 PMID:31448769
Resolution of Consumptive Hypothyroidism Secondary to Infantile Hepatic Hemangiomatosis with a Combination of Propranolol and Levothyroxine
  • Victoria Campbell
  • Rachel Beckett
  • Noina Abid
  • Susannah Hoey
J Clin Res Pediatr Endocrinol 2018; 10: 294-298 DOI: 10.4274/jcrpe.4865 PMID:29537380
A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene
  • Doğa Türkkahraman
  • Nimet Karataş Torun
  • Nadide Cemre Randa
J Clin Res Pediatr Endocrinol 2021; 13: 353-357 DOI: 10.4274/jcrpe.galenos.2020.2020.0149 PMID:32772515
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
J Clin Res Pediatr Endocrinol 2020; 12: 427-431 DOI: 10.4274/jcrpe.galenos.2019.2019.0144 PMID:31914726

Review

The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults
  • İbrahim Mert Erbaş
  • Korcan Demir
J Clin Res Pediatr Endocrinol 2021; 13: 1-14 DOI: 10.4274/jcrpe.galenos.2020.2019.0190 PMID:32349464
Update on Some Aspects of Neonatal Thyroid Disease
  • Tamar Simpser
  • Robert Rapaport
J Clin Res Pediatr Endocrinol 2010; 2: 95-99 DOI: 10.4274/jcrpe.v2i3.95 PMID:21274321

Original Research

Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis
  • Shiguo Liu
  • Jian Chai
  • Guohua Zheng
  • Huichao Li
  • Deguo Lu
  • Yinlin Ge
J Clin Res Pediatr Endocrinol 2016; 8: 21-25 DOI: 10.4274/jcrpe.2456 PMID:26757609
Effect Of Hypo-and Euthyroid Status On Serum Cystatin C Levels
  • Tülin Ayşe Özden
  • Hüseyin Tekerek
  • Firdevs Baş
  • Feyza Darendeliler
J Clin Res Pediatr Endocrinol 2010; 2: 155-158 DOI: 10.4274/jcrpe.v2i4.155 PMID:21274315
Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course
  • Cengiz Kara
  • Figen Günindi
  • Gülay Can Yılmaz
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2016; 8: 170-179 DOI: 10.4274/jcrpe.2345 PMID:27086592
Pseudohypoparathyroidism Type 1A-Subclinical Hypothyroidism and Rapid Weight Gain as Early Clinical Signs: A Clinical Review of 10 Cases
  • Simon Kayemba-Kay’s
  • Cedric Tripon
  • Anne Heron
  • Peter Hindmarsh
J Clin Res Pediatr Endocrinol 2016; 8: 432-438 DOI: 10.4274/jcrpe.2743 PMID:27467896
The Effect of Congenital and Postnatal Hypothyroidism on Depression-Like Behaviors in Juvenile Rats
  • Erdoğan Özgür
  • Börte Gürbüz Özgür
  • Hatice Aksu
  • Gökhan Cesur
J Clin Res Pediatr Endocrinol 2016; 8: 439-444 DOI: 10.4274/jcrpe.3498 PMID:27611926

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
J Clin Res Pediatr Endocrinol 2012; 4: 30-33 DOI: 10.4274/jcrpe.477 PMID:22394702
Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo-Pendred Syndrome?
  • Cengiz Kara
  • Mehtap Kılıç
  • Ahmet Uçaktürk
  • Murat Aydın
J Clin Res Pediatr Endocrinol 2010; 2: 81-84 DOI: 10.4274/jcrpe.v2i2.81 PMID:21274344
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
J Clin Res Pediatr Endocrinol 2016; 8: 86-91 DOI: 10.4274/jcrpe.2512 PMID:26757742
An Adolescent Boy with Comorbid Anorexia Nervosa and Hashimoto Thyroiditis
  • Melis Pehlivantürk Kızılkan
  • Nuray Kanbur
  • Sinem Akgül
  • Ayfer Alikaşifoğlu
J Clin Res Pediatr Endocrinol 2016; 8: 92-95 DOI: 10.4274/jcrpe.2297 PMID:26757948
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
J Clin Res Pediatr Endocrinol 2012; 4: 111-113 DOI: 10.4274/jcrpe.553 PMID:22672871
A Case of Subclinical Hypothyroidism with Lingual and Right Pretracheal Ectopic Thyroid
  • Min Sun Kim
  • Young Hwa Kong
  • Dae-Yeol Lee
J Clin Res Pediatr Endocrinol 2015; 7: 148-150 DOI: 10.4274/jcrpe.1791 PMID:26316439
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
J Clin Res Pediatr Endocrinol 2014; 6: 177-179 DOI: 10.4274/jcrpe.1383 PMID:25241613
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
J Clin Res Pediatr Endocrinol 2016; 8: 224-227 DOI: 10.4274/jcrpe.2380 PMID:26758695
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
J Clin Res Pediatr Endocrinol 2015; 7: 238-241 DOI: 10.4274/jcrpe.2017 PMID:26831560
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
J Clin Res Pediatr Endocrinol 2016; 8: 241-245 DOI: 10.4274/jcrpe.2503 PMID:26761947
Iodine Overload and Severe Hypothyroidism in Two Neonates
  • Selim Kurtoğlu
  • Leyla Akın
  • Mustafa Ali Akın
  • Dilek Çoban
J Clin Res Pediatr Endocrinol 2009; 1: 275-277 DOI: 10.4274/jcrpe.v1i6.275 PMID:21274309
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
J Clin Res Pediatr Endocrinol 2017; 9: 278-282 DOI: 10.4274/jcrpe.4595 PMID:28515030

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
J Clin Res Pediatr Endocrinol 2011; 3: 32-35 DOI: 10.4274/jcrpe.v3i1.07 PMID:21448332
Hypothyroidism Due to Hepatic Hemangioendothelioma: A Case Report
  • Semra Çetinkaya
  • Havva Nur Peltek Kendirici
  • Sebahat Yılmaz Ağladıoğlu
  • Veysel Nijat Baş
  • Sonay Özdemir
  • Ceyhun Bozkurt
  • Zehra Aycan
J Clin Res Pediatr Endocrinol 2010; 2: 126-130 DOI: 10.4274/jcrpe.v2i3.126 PMID:21274327
Neonatal Sludge: A finding of congenital hypothyroidism
  • Selim Kurtoğlu
  • Dilek Çoban
  • Mustafa Ali Akın
  • Leyla Akın
  • Ali Yıkılmaz
J Clin Res Pediatr Endocrinol 2009; 1: 197-200 DOI: 10.4274/jcrpe.v1i4.54 PMID:21274296
A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis
  • Tamar Lubell
  • Maria Garzon
  • Kwame Anyane-Yeboa
  • Bina Shah
J Clin Res Pediatr Endocrinol 2009; 1: 244-247 DOI: 10.4274/jcrpe.v1i5.244 PMID:21274302