Research & Literature

Early Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland.

Messina MF, Aversa T, Salzano G, et al.

Hormone research in paediatrics 2015; (84(3)):159-64 doi:10.1159/000435811.

Evidence or enthusiasm? Why yields from UK newborn screening programmes for congenital hypothyroidism are increasing.

Pollitt RJ

Archives of disease in childhood 2016; (101(2)):120-3 doi:10.1136/archdischild-2015-309546.

Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.

Maruo Y, Nagasaki K, Matsui K, et al.

European journal of endocrinology 2016; (174(4)):453-63 doi:10.1530/EJE-15-0959.

Targeted Next-Generation Sequencing Analysis of a Pendred Syndrome-Associated Thyroid Carcinoma.

Tong GX, Chang Q, Hamele-Bena D, et al.

Endocrine pathology 2016; (27(1)):70-5 doi:10.1007/s12022-015-9413-4.

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

Sriphrapradang C, Thewjitcharoen Y, Chanprasertyothin S, et al.

Journal of clinical research in pediatric endocrinology 2016; (8(2)):241-5 doi:10.4274/jcrpe.2503.

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

Fu C, Luo S, Zhang S, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (458()):30-4.

Congenital hypothyroidism with delayed thyroid-stimulating hormone elevation in premature infants born at less than 30 weeks gestation.

Kaluarachchi DC, Colaizy TT, Pesce LM, et al.

Journal of perinatology : official journal of the California Perinatal Association 2017; (37(3)):277-282 doi:10.1038/jp.2016.213.

Congenital Hypothyroidism: Role of Nuclear Medicine.

Keller-Petrot I, Leger J, Sergent-Alaoui A, de Labriolle-Vaylet C

Seminars in nuclear medicine 2017; (47(2)):135-142 doi:10.1053/j.semnuclmed.2016.10.005.

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.

Zheng X, Ma SG, Guo ML, et al.

Yonsei medical journal 2017; (58(4)):888-890 doi:10.3349/ymj.2017.58.4.888.

Pendred syndrome.

Wémeau JL, Kopp P

Best practice & research. Clinical endocrinology & metabolism 2017; (31(2)):213-224 doi:10.1016/j.beem.2017.04.011.

Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis.

Desai MP, Sharma R, Riaz I, et al.

Indian journal of pediatrics 2018; (85(6)):440-447 doi:10.1007/s12098-017-2575-y.

Genetics of Primary Congenital Hypothyroidism.

Zwaveling-Soonawala N, van Trotsenburg P

Pediatric endocrinology reviews : PER 2018; (15(3)):200-215 doi:10.17458/per.vol15.2018.zst.geneticsprimaryhypothyroidism.

The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.

Sun F, Zhang JX, Yang CY, et al.

European journal of endocrinology 2018; (178(6)):623-633.

Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.

Long W, Lu G, Zhou W, et al.

Endocrine journal 2018; (65(10)):1019-1028 doi:10.1507/endocrj.EJ18-0156.

Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.

Yu B, Long W, Yang Y, et al.

Frontiers in genetics 2018; (9()):509 doi:10.3389/fgene.2018.00509.

Optimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.

McGrath N, Hawkes CP, Mayne P, Murphy NP

The Journal of pediatrics 2019; (205()):77-82 doi:10.1016/j.jpeds.2018.09.044.

Clinical genetics of defects in thyroid hormone synthesis.

Kwak MJ

Annals of pediatric endocrinology & metabolism 2018; (23(4)):169-175 doi:10.6065/apem.2018.23.4.169.

Prenatal Diagnosis and Management of a Fetal Goiter Hypothyroidism due to Dyshormonogenesis.

Figueiredo CM, Falcão I, Vilaverde J, et al.

Case reports in endocrinology 2018; (2018()):9564737 doi:10.1155/2018/9564737.

Evaluation and management of the child with hypothyroidism.

Leung AKC, Leung AAC

World journal of pediatrics : WJP 2019; (15(2)):124-134 doi:10.1007/s12519-019-00230-w.

Multi-parametric Ultrasound Evaluation of Pediatric Thyroid Dyshormonogenesis.

Adaletli I, Bayramoglu Z, Caliskan E, et al.

Ultrasound in medicine & biology 2019; (45(7)):1644-1653 doi:10.1016/j.ultrasmedbio.2019.03.004.

A knock-in mouse model of Pendred syndrome with Slc26a4 L236P mutation.

Wen Z, Zhu H, Li Z, et al.

Biochemical and biophysical research communications 2019; (515(2)):359-365 doi:10.1016/j.bbrc.2019.05.157.

Avoiding the Overdiagnosis of Congenital Hypothyroidism in Premature Newborns.

Grob F, Van Vliet G

Pediatrics 2019; (144(2)) doi:10.1542/peds.2019-1706.

Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report.

Sasivari Z, Szinnai G, Seebauer B, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(11)):1299-1303.

Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.

Malesci R, Russo R, Monzillo C, et al.

International journal of pediatric otorhinolaryngology 2020; (134()):110018 doi:10.1016/j.ijporl.2020.110018.

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

van Trotsenburg P, Stoupa A, Léger J, et al.

Thyroid : official journal of the American Thyroid Association 2021; (31(3)):387-419 doi:10.1089/thy.2020.0333.

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

Günbey C, Özön A, Gönç EN, et al.

Journal of clinical research in pediatric endocrinology 2021; (13(3)):269-275 doi:10.4274/jcrpe.galenos.2020.2020.0194.

Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.

Zheng Z, Yang L, Sun C, et al.

Annals of translational medicine 2020; (8(24)):1649 doi:10.21037/atm-20-7165.

The Role of Nuclear Medicine in the Clinical Management of Benign Thyroid Disorders, Part 2: Nodular Goiter, Hypothyroidism, and Subacute Thyroiditis.

Mariani G, Tonacchera M, Grosso M, et al.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2021; (62(7)):886-895 doi:10.2967/jnumed.120.251504.

Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.

Shin JH, Kim HY, Kim YM, et al.

Annals of clinical and laboratory science 2021; (51(1)):73-81.

Cochlear implantation in patients with Pendred syndrome.

Patterson TE, Gonzalez VB, Carron JD

American journal of otolaryngology 2021; (42(6)):103087 doi:10.1016/j.amjoto.2021.103087.

Transient congenital hypothyroidism - too short to be transient.

Subramaniam K

Journal of postgraduate medicine 2021; (67(4)):238-240 doi:10.4103/jpgm.JPGM_1308_20.

The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.

Zhang RJ, Yang GL, Cheng F, et al.

Clinical endocrinology 2022; (96(4)):617-626 doi:10.1111/cen.14577.

Evaluation of the Congenital Hypothyroidism Detection Strategy in Extremely Preterm Infants in Western Andalusia.

Rubio-Sánchez R, Núñez-Jurado D, Melguizo-Madrid E, et al.

American journal of perinatology 2023; (40(13)):1421-1424 doi:10.1055/a-1627-0240.

Congenital Hypothyroidism.

Brady J, Cannupp A, Myers J, Jnah AJ

Neonatal network : NN 2021; (40(6)):377-385 doi:10.1891/11-T-699.

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.

Bernal Barquero CE, Geysels RC, Jacques V, et al.

International journal of molecular sciences 2022; (23(16)) doi:10.3390/ijms23169251.

SLC26A4 Mutation Promotes Cell Apoptosis by Inducing Pendrin Transfer, Reducing Cl- Transport, and Inhibiting PI3K/Akt/mTOR Pathway.

Dai X, Li J, Hu X, et al.

BioMed research international 2022; (2022()):6496799 doi:10.1155/2022/6496799.

Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China.

Gong Y, Zhang Y, Liu F, et al.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022; (51(3)):306-313 doi:10.3724/zdxbyxb-2022-0199.

Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process.

Vázquez-Román V, Cameselle-Teijeiro JM, Fernández-Santos JM, et al.

Endocrine pathology 2022; (33(4)):484-493 doi:10.1007/s12022-022-09732-2.

Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.

Lin Y, Chen X, Liang C, et al.

European journal of ophthalmology 2023; (33(5)):NP1-NP4 doi:10.1177/11206721221132874.

Alström syndrome caused by maternal uniparental disomy.

Lopour MQR, Schimmenti LA, Boczek NJ, et al.

American journal of ophthalmology case reports 2023; (29()):101745 doi:10.1016/j.ajoc.2022.101745.

Congenital Hypothyroidism: Screening and Management.

Rose SR, Wassner AJ, Wintergerst KA, et al.

Pediatrics 2023; (151(1)) doi:10.1542/peds.2022-060420.

Assessment of Neurodevelopment and Growth in Congenital Hypothyroidism: Serial 6-Year Follow-up Study of 408 Patients.

Ha EK, Kim JH, Cha HR, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(12)):e1588-e1596 doi:10.1210/clinem/dgad364.

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.

Li YL, Gong FY, Dang ZY, et al.

European review for medical and pharmacological sciences 2023; (27(12)):5390-5396 doi:10.26355/eurrev_202306_32773.

A Large Thyroid Goiter in a Newborn With Congenital Hypothyroidism: Timeline for Decrease in Size of Thyroid.

July O'Brien K, Ceremsak JJ, Gallant JN, et al.

Ear, nose, & throat journal 2025; (104(2_suppl)):236S-240S doi:10.1177/01455613231189116.

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Zhang HY, Wu FY, Li XS, et al.

Hormone research in paediatrics 2024; (97(4)):353-364 doi:10.1159/000533969.

Evaluation of patients diagnosed with congenital hypothyroidism by newborn screening between 2011-2019 in Diyarbakir, Turkey.

Toktaş İ, Erdem Ö, Saribaş S, Özbek MN

Medicine 2023; (102(51)):e36778 doi:10.1097/MD.0000000000036778.

Quality of life and socioeconomic and educational status in patients with congenital hypothyroidism.

Danner E, Sund R, Sintonen H, et al.

Pediatric research 2024; (96(2)):502-509 doi:10.1038/s41390-024-03170-y.

Thyroid hormone deficiency affects anxiety-related behaviors and expression of hippocampal glutamate transporters in male congenital hypothyroid rat offspring.

Zare Z, Shafia S, Mohammadi M

Hormones and behavior 2024; (162()):105548 doi:10.1016/j.yhbeh.2024.105548.

Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.

Uehara E, Abe K, Tanase-Nakao K, et al.

Thyroid : official journal of the American Thyroid Association 2024; (34(7)):827-836 doi:10.1089/thy.2024.0046.

Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report.

Sciarroni E, Montanelli L, Di Cosmo C, et al.

Italian journal of pediatrics 2024; (50(1)):106 doi:10.1186/s13052-024-01672-3.

White Thyroid Scintigraphy.

Zouggari S, Bsiss MA, Matrane A

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India 2024; (39(3)):232-233 doi:10.4103/ijnm.ijnm_146_23.

Outcomes of newborns screened for congenital hypothyroidism in Turkey - a single center experience.

Esen I, Eraslan N, Okdemir D

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(1)):45-50 doi:10.1515/jpem-2024-0377.

The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.

Du J, Yang Y, Wei D, et al.

Annals of medicine 2025; (57(1)):2440121 doi:10.1080/07853890.2024.2440121.

Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.

Huang X, Shao Q, Weng S, et al.

Biomedical reports 2025; (22(2)):30 doi:10.3892/br.2024.1908.

Clinical Insight into Congenital Hypothyroidism Among Children.

Korkmaz HA

Children (Basel, Switzerland) 2025; (12(1)) doi:10.3390/children12010055.

Neurodevelopmental Disorders, Cognitive Function, and Quality of Life in Children with Congenital Hypothyroidism in a Portuguese Population

Leite-Almeida L, Curval R, Pais-Cunha I, et al.

Journal of clinical research in pediatric endocrinology 2025; (17(4)):449-457 doi:10.4274/jcrpe.galenos.2025.2024-11-17.

Perinatal thyroid hormone deficiency leads to oxidative stress-induced neuronal damage and activation of astrocytes in rat hippocampus: Neuroprotective effect of exercise.

Zare Z, Zarbakhsh S, Mohammadi M

Neuroscience 2025; (576()):96-104 doi:10.1016/j.neuroscience.2025.04.042.

Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis.

Mohamadsalih G, Al Bureshad K, Mohammed I, et al.

Case reports in medicine 2025; (2025()):5313611 doi:10.1155/carm/5313611.

Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association.

Zhang CC, Zhang WT, Chen LH, et al.

Clinica chimica acta; international journal of clinical chemistry 2025; (576()):120426 doi:10.1016/j.cca.2025.120426.

Evaluation of Transient or Permanent Congenital Hypothyroidism.

Kurtoğlu S, Baştuğ O, Özdemir A

Journal of clinical practice and research 2023; (45(4)):321-326 doi:10.14744/cpr.2023.32042.