Research & Literature

The evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism.

Peltek Kendirci HN, Aycan Z, Sağsak E, et al.

Turkish journal of medical sciences 2015; (45(4)):745-50.

Early deterioration of residual hearing in patients with SLC26A4 mutations.

Kim BG, Roh KJ, Park AY, et al.

The Laryngoscope 2016; (126(8)):E286-91 doi:10.1002/lary.25786.

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.

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Fu C, Zheng H, Zhang S, et al.

Archives of endocrinology and metabolism 2016; (60(4)):323-7.

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.

Sparling DP, Fabian K, Harik L, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(5)):627-31.

Frequency of thyroid status monitoring in the first year of life and predictors for more frequent monitoring in infants with congenital hypothyroidism.

Zdraveska N, Anastasovska V, Kocova M

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(7)):795-800.

Congenital Hypothyroidism: Optimal Initial Dosage and Time of Initiation of Treatment: A Systematic Review.

Rahmani K, Yarahmadi S, Etemad K, et al.

International journal of endocrinology and metabolism 2016; (14(3)):e36080 doi:10.5812/ijem.36080.

Thyroid hormone biosynthesis and release.

Carvalho DP, Dupuy C

Molecular and cellular endocrinology 2017; (458()):6-15 doi:10.1016/j.mce.2017.01.038.

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.

Iodide handling disorders (NIS, TPO, TG, IYD).

Targovnik HM, Citterio CE, Rivolta CM

Best practice & research. Clinical endocrinology & metabolism 2017; (31(2)):195-212 doi:10.1016/j.beem.2017.03.006.

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.

Etiological evaluation of primary congenital hypothyroidism cases.

Bezen D, Dilek E, Torun N, Tütüncüler F

Turk pediatri arsivi 2017; (52(2)):85-91 doi:10.5152/TurkPediatriArs.2017.3989.

Fetal goitrous hypothyroidism treated by intra-amniotic levothyroxine administration: case report and review of the literature.

Kobayashi M, Yagasaki H, Saito T, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(9)):1001-1005.

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.

Congenital Hypothyroidism.

Wassner AJ

Clinics in perinatology 2018; (45(1)):1-18 doi:10.1016/j.clp.2017.10.004.

Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part II: Imaging, Treatment and Follow-up.

Sudhanshu S, Riaz I, Sharma R, et al.

Indian journal of pediatrics 2018; (85(6)):448-453 doi:10.1007/s12098-017-2576-x.

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

Zou M, Alzahrani AS, Al-Odaib A, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(5)):1889-1898 doi:10.1210/jc.2017-02202.

Relation between Early Over- and Undertreatment and Behavioural Problems in Preadolescent Children with Congenital Hypothyroidism.

Bongers-Schokking JJ, Resing WCM, Oostdijk W, et al.

Hormone research in paediatrics 2018; (90(4)):247-256 doi:10.1159/000494056.

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.

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.

The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct.

Mey K, Bille M, Rye Rasmussen SH, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2019; (40(3)):e178-e185 doi:10.1097/MAO.0000000000002140.

The role of thyroglobulin in thyroid hormonogenesis.

Citterio CE, Targovnik HM, Arvan P

Nature reviews. Endocrinology 2019; (15(6)):323-338 doi:10.1038/s41574-019-0184-8.

DUOX Defects and Their Roles in Congenital Hypothyroidism.

De Deken X, Miot F

Methods in molecular biology (Clifton, N.J.) 2019; (1982()):667-693 doi:10.1007/978-1-4939-9424-3_37.

Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.

Ishii J, Suzuki A, Kimura T, et al.

Communications biology 2019; (2()):270 doi:10.1038/s42003-019-0503-6.

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.

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene.

Heo S, Jang JH, Yu J

Annals of pediatric endocrinology & metabolism 2019; (24(3)):199-202 doi:10.6065/apem.2019.24.3.199.

Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.

Bruellman RJ, Watanabe Y, Ebrhim RS, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(5)) doi:10.1210/clinem/dgz297.

Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.

Long W, Zhou L, Wang Y, et al.

International journal of endocrinology 2020; (2020()):6808517 doi:10.1155/2020/6808517.

Anaplastic Thyroid Cancer Arising from Dyshormonogenetic Goiter: c.3070T>C and Novel c.7070T>C Mutation in the Thyroglobulin Gene.

Yoon JH, Hong AR, Kim HK, Kang HC

Thyroid : official journal of the American Thyroid Association 2020; (30(11)):1676-1680 doi:10.1089/thy.2020.0248.

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.

Forli F, Lazzerini F, Auletta G, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2021; (278(7)):2305-2312 doi:10.1007/s00405-020-06333-9.

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.

Genetics of primary congenital hypothyroidism-a review.

Kostopoulou E, Miliordos K, Spiliotis B

Hormones (Athens, Greece) 2021; (20(2)):225-236 doi:10.1007/s42000-020-00267-x.

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.

Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene.

Calcaterra V, Lamberti R, Viggiano C, et al.

Pediatric reports 2021; (13(2)):210-215 doi:10.3390/pediatric13020029.

Case Report: Functional Analysis and Neuropsychological Evaluation of Dyshormonogenetic Fetal Goiter in Siblings Caused by Novel Compound Hyterozygous TPO Gene Mutations.

Rodrigues TMB, Silva MMDC, Freitas MM, et al.

Frontiers in endocrinology 2021; (12()):671659 doi:10.3389/fendo.2021.671659.

Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Oliver-Petit I, Edouard T, Jacques V, et al.

Frontiers in endocrinology 2021; (12()):657913 doi:10.3389/fendo.2021.657913.

Congenital hypothyroidism and thyroid cancer.

Penna G, Rubio IGS, Brust ES, et al.

Endocrine-related cancer 2021; (28(9)):R217-R230.

Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.

Durgia H, Nicholas AK, Schoenmakers E, et al.

Thyroid : official journal of the American Thyroid Association 2022; (32(2)):215-218 doi:10.1089/thy.2021.0478.

MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.

Peters C, Schoenmakers N

European journal of endocrinology 2022; (187(2)):R1-R16 doi:10.1530/EJE-21-1278.

Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism.

Geysels RC, Bernal Barquero CE, Martín M, et al.

Frontiers in endocrinology 2022; (13()):868891 doi:10.3389/fendo.2022.868891.

An Overview on Different L-Thyroxine (l-T4) Formulations and Factors Potentially Influencing the Treatment of Congenital Hypothyroidism During the First 3 Years of Life.

Stagi S, Municchi G, Ferrari M, Wasniewska MG

Frontiers in endocrinology 2022; (13()):859487 doi:10.3389/fendo.2022.859487.

Goiter in a 6-year-old patient with novel thyroglobulin gene variant (Gly145Glu) causing intracellular thyroglobulin transport disorder: Correlation between goiter size and the free T3 to free T4 ratio.

Matsuyama M, Sawada H, Inoue S, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2022; (31(3)):185-191 doi:10.1297/cpe.2022-0006.

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Li L, Li X, Wang X, et al.

Endocrine 2023; (79(1)):125-134 doi:10.1007/s12020-022-03188-4.

Mitotically Active Follicular Nodule in Early Childhood: A Case Report with a Novel Mutation in the Thyroglobulin Gene

Kızılcan Çetin S, Aycan Z, Şıklar Z, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(3)):340-343 doi:10.4274/jcrpe.galenos.2022.2022-8-20.

Thyroid Surgery in Children: A 5-Year Retrospective Study at a Single Paediatric Surgical Center and Systematic Review.

Bukarica S, Antić J, Fratrić I, et al.

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121818.

Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.

Liu R, Tian JL, Huang XL, Song YZ

Journal of clinical medicine 2022; (11(24)) doi:10.3390/jcm11247313.

Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct.

Perry J, Sher E, Kawai K, et al.

The Laryngoscope 2023; (133(10)):2786-2791 doi:10.1002/lary.30605.

Adult Thyroid Outcomes of Congenital Hypothyroidism.

Sugisawa C, Narumi S, Tanase-Nakao K, et al.

Thyroid : official journal of the American Thyroid Association 2023; (33(5)):556-565 doi:10.1089/thy.2022.0481.

Congenital Hypothyroidism: Screening and Management.

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

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

Congenital Hypothyroidism: Screening and Management.

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

Pediatrics 2023; (151(1)) doi:10.1542/peds.2022-060419.

Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism.

Kara C, Mammadova J, Abur Ü, et al.

European thyroid journal 2023; (12(3)).

Degenerative atypia in benign thyroid nodules: a potential diagnostic pitfall on fine-needle aspiration.

Lam H, Saoud C, Shi Q, et al.

Journal of the American Society of Cytopathology 2023; (12(5)):341-350 doi:10.1016/j.jasc.2023.04.006.

Perinatal airway management in neonatal goiter: A healthcare cost and utilization project (HCUP) kids' inpatient database analysis.

Matabele MN, Cheng C, Venkatesh M, et al.

International journal of pediatric otorhinolaryngology 2023; (175()):111767 doi:10.1016/j.ijporl.2023.111767.

Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report

Signorino C, Municchi G, Ferrari M, Stagi S

Journal of clinical research in pediatric endocrinology 2025; (17(2)):237-241 doi:10.4274/jcrpe.galenos.2023.2023-9-12.

Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.

Tanase-Nakao K, Iwahashi-Odano M, Sugisawa C, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(9)):2358-2365 doi:10.1210/clinem/dgae098.

Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.

Dalal A, Sarma AS, Desai A, et al.

Hormone research in paediatrics 2025; (98(6)):668-676 doi:10.1159/000539825.

Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.

Park J, Joo EY, Yoo MJ, et al.

Medicine 2024; (103(29)):e38976 doi:10.1097/MD.0000000000038976.

Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile.

Arteaga-Jacobo MC, Roco-Videla Á, Villota Arcos C, et al.

Medicina (Kaunas, Lithuania) 2024; (60(7)) doi:10.3390/medicina60071145.

Looking Beyond Thyroid Malignancy: An Unusual Case of Dyshormonogenetic Goiter in Rural India.

Dekhne A, Popat A, Chopwad A

Cureus 2024; (16(8)):e68139 doi:10.7759/cureus.68139.

Higher initial levothyroxine doses and very early treatment start may lead to better cognitive outcomes in children with congenital hypothyroidism.

Danner E, Niuro L, Lapinoja S, et al.

Acta paediatrica (Oslo, Norway : 1992) 2025; (114(3)):594-602 doi:10.1111/apa.17479.

Newborn screening and the screening laboratory: past, present and future.

Boelen A, Heijboer AC

European thyroid journal 2025; (14(1)).

Newborn screening for central congenital hypothyroidism: past, present and future.

Garrelfs MR, Mooij CF, Boelen A, et al.

European thyroid journal 2025; (14(1)).

Ultrasound and histopathological assessment of benign, borderline, and malignant thyroid tumors in pediatric patients: an illustrative review and literature overview.

Januś D, Kujdowicz M, Kiszka-Wiłkojć A, et al.

Frontiers in endocrinology 2024; (15()):1481804 doi:10.3389/fendo.2024.1481804.

Imaging findings of thyroid diseases in children.

Tsujioka Y, Yamada Y, Hasegawa T, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2025; (34(2)):89-104 doi:10.1297/cpe.2024-0082.

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.

50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives.

Vincenzi G, Petralia IT, Abbate M, Vigone MC

European thyroid journal 2025; (14(4)).

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism.

Islam MS, Dumitrescu AM, Ahmed A, et al.

Endocrine 2025; (90(3)):1339-1349 doi:10.1007/s12020-025-04423-4.

Permanent or Transient Congenital Hypothyroidism: A Diagnostic Dilemma.

Dermitzaki N, Serbis A, Baltogianni M, et al.

Acta paediatrica (Oslo, Norway : 1992) 2026; (115(1)):43-54 doi:10.1111/apa.70312.

Airway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect.

Hirano Y, Shimura K, Mitani-Konno M, et al.

European journal of endocrinology 2025; (193(4)):K16-K21 doi:10.1093/ejendo/lvaf198.

Reevaluation of Enlarged Vestibular Aqueduct.

Huang S, Gao X, Jiang Y, et al.

JAMA otolaryngology-- head & neck surgery 2025; (151(11)):1046-1056 doi:10.1001/jamaoto.2025.2866.

Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology.

Young C, Arvan P

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2026; (40(8)):e71801 doi:10.1096/fj.202600673R.

Thyroid dyshormonogenesis caused by iodotyrosine deiodinase pathogenic variant: three cases presenting in adolescence.

Choong IEX, Chen SC, Shaikh MG

JCEM case reports 2026; (4(6)):luag111 doi:10.1210/jcemcr/luag111.

A novel homozygous thyroglobulin gene variant presenting with massive congenital goiter and neonatal airway obstruction.

Anık A, Şen Küçük K, Öztürk S, et al.

Hormones (Athens, Greece) 2026; doi:10.1007/s42000-026-00810-2.