Research & Literature

Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.

Van Vliet G, Deladoëy J

F1000prime reports 2015; (7()):20 doi:10.12703/P7-20.

Analysis of the PAX8 gene in 32 children with thyroid dysgenesis and functional characterization of a promoter variant.

Perone D, Medeiros-Neto G, Nogueira CR, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2016; (29(2)):193-201.

Newborn screening for congenital hypothyroidism in Henan province, China.

Zhao DH, Shen Y, Gong JM, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (452()):58-60.

Levothyroxine liquid solution versus tablet form for replacement treatment in pregnant women.

Cappelli C, Negro R, Pirola I, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2016; (32(4)):290-2 doi:10.3109/09513590.2015.1113518.

Congenital Hypothyroidism: Long-Term Experience with Early and High Levothyroxine Dosage.

Uyttendaele M, Lambert S, Tenoutasse S, et al.

Hormone research in paediatrics 2016; (85(3)):188-97 doi:10.1159/000443958.

Comorbidities of Thyroid Disease in Children.

Pimentel J, Chambers M, Shahid M, et al.

Advances in pediatrics 2016; (63(1)):211-26.

Implementation of a Diabetes Transition of Care Program.

Little JM, Odiaga JA, Minutti CZ

Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 2017; (31(2)):215-221 doi:10.1016/j.pedhc.2016.08.009.

Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

Wang F, Liu C, Jia X, et al.

Clinica chimica acta; international journal of clinical chemistry 2017; (470()):36-41 doi:10.1016/j.cca.2017.04.020.

TARGETED LEVOTHYROXINE THERAPY FOR TREATMENT OF CONGENITAL HYPOTHYROIDISM.

Schoelwer MJ, Tu W, Zhou J, Eugster EA

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017; (23(9)):1067-1071 doi:10.4158/EP171881.OR.

Thyroid disease in pregnancy: new insights in diagnosis and clinical management.

Korevaar TIM, Medici M, Visser TJ, Peeters RP

Nature reviews. Endocrinology 2017; (13(10)):610-622 doi:10.1038/nrendo.2017.93.

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.

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.

Cerqueira TLO, Ramos YR, Strappa GB, et al.

Archives of endocrinology and metabolism 2018; (62(4)):466-471 doi:10.20945/2359-3997000000065.

Thyroid scintigraphy in three-year-old children with congenital hypothyroidism in correlation with neonatal TSH.

Aminzadeh M

Endokrynologia Polska 2019; (70(1)):43-48 doi:10.5603/EP.a2018.0083.

Thyroid Hormone Suppression Therapy.

Biondi B, Cooper DS

Endocrinology and metabolism clinics of North America 2019; (48(1)):227-237 doi:10.1016/j.ecl.2018.10.008.

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.

Update on congenital hypothyroidism.

Cherella CE, Wassner AJ

Current opinion in endocrinology, diabetes, and obesity 2020; (27(1)):63-69 doi:10.1097/MED.0000000000000520.

Performance in motor, communicative and cognitive skills of girls with congenital hypothyroidism treated from the neonatal period.

Lamônica DAC, Anastácio-Pessan FDL, Ferraz PMDP, Ribeiro CDC

CoDAS 2020; (32(1)):e20190017 doi:10.1590/2317-1782/20192019017.

Combined mutations of NKX2-1 and surfactant protein C genes for refractory low oxyhemoglobin saturation and interstitial pneumonia: A case report.

Gu R, Ye G, Zhou Y, Jiang Z

Medicine 2020; (99(12)):e19650 doi:10.1097/MD.0000000000019650.

Incidence of primary congenital hypothyroidism and relationship between diagnostic categories and associated malformations.

Tuli G, Munarin J, Tessaris D, et al.

Endocrine 2021; (71(1)):122-129 doi:10.1007/s12020-020-02370-w.

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.

A retrospective analysis of congenital anomalies in congenital hypothyroidism.

Mazahir FA, Khadora MM

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(9)):1147-1153 doi:10.1515/jpem-2020-0250.

Congenital Hypothyroidism.

Al-Qahtani M

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022; (35(19)):3761-3769 doi:10.1080/14767058.2020.1838480.

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.

A Patient Navigator Intervention Supporting Timely Transfer Care of Adolescent and Young Adults of Hispanic Descents Attending an Urban Primary Care Pediatrics Clinic.

Allende-Richter S, Glidden P, Maloyan M, et al.

Pediatric quality & safety 2021; (6(2)):e391 doi:10.1097/pq9.0000000000000391.

Predictors of transient congenital primary hypothyroidism: data from the German registry for congenital hypothyroidism (AQUAPE "HypoDok").

Matejek N, Tittel SR, Haberland H, et al.

European journal of pediatrics 2021; (180(8)):2401-2408 doi:10.1007/s00431-021-04031-0.

Thyroid imaging study in children with suspected thyroid dysgenesis.

Chun S, Lee YS, Yu J

Annals of pediatric endocrinology & metabolism 2021; (26(1)):53-59 doi:10.6065/apem.2040120.060.

Infants Diagnosed with Athyreosis on Scintigraphy May Have a Gland Present on Ultrasound and Have Transient Congenital Hypothyroidism.

McGrath N, Hawkes CP, Ryan S, et al.

Hormone research in paediatrics 2021; (94(1-2)):36-43 doi:10.1159/000514989.

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.

Fetal and Neonatal Thyroid Dysfunction.

Léger J, Delcour C, Carel JC

The Journal of clinical endocrinology and metabolism 2022; (107(3)):836-846 doi:10.1210/clinem/dgab747.

An interpretation of "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".

Huang R, Zou FL, Li MJ, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2021; (23(11)):1075-1079 doi:10.7499/j.issn.1008-8830.2106051.

Congenital Hypothyroidism.

Brady J, Cannupp A, Myers J, Jnah AJ

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

Whole-Exome Sequencing in Congenital Hypothyroidism Due to Thyroid Dysgenesis.

Larrivée-Vanier S, Jean-Louis M, Magne F, et al.

Thyroid : official journal of the American Thyroid Association 2022; (32(5)):486-495 doi:10.1089/thy.2021.0597.

[Brain-lung-thyroid syndrome in a newborn with deletion 14q12-q21.1].

Villamil-Osorio M, Yunis LK, Quintero L, et al.

Andes pediatrica : revista Chilena de pediatria 2021; (92(6)):930-936 doi:10.32641/andespediatr.v92i6.3287.

Treatment of hypothyroidism in infants, children and adolescents.

Rodriguez L, Dinauer C, Francis G

Trends in endocrinology and metabolism: TEM 2022; (33(7)):522-532 doi:10.1016/j.tem.2022.04.007.

A Novel Pathogenic Variant in PAX8 Leads to Familial Congenital Hypothyroidism.

França MM, Reeve L, Dumitrescu AM, et al.

Thyroid : official journal of the American Thyroid Association 2022; (32(8)):1000-1002 doi:10.1089/thy.2022.0117.

Resistance to thyroid hormone in a child with thyroid agenesis: A case report with review of the literature.

Hasan KM, Mohammed BA, Ahmed SF, et al.

Annals of medicine and surgery (2012) 2022; (77()):103569 doi:10.1016/j.amsu.2022.103569.

Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience.

Lipska E, Lecka-Ambroziak A, Witkowski D, et al.

Frontiers in endocrinology 2022; (13()):895507 doi:10.3389/fendo.2022.895507.

[Ectopic thyroid gland: clinical features and diagnostics in children].

Shreder EV, Vadina TA, Konyukhova MB, et al.

Problemy endokrinologii 2022; (68(3)):76-85 doi:10.14341/probl12876.

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

Sarma AS, Banda L, Rao Vupputuri M, et al.

European journal of medical genetics 2022; (65(10)):104591 doi:10.1016/j.ejmg.2022.104591.

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.

Molecular investigation of TSHR gene in Bangladeshi congenital hypothyroid patients.

Begum MN, Mahtarin R, Islam MT, et al.

PloS one 2023; (18(8)):e0282553 doi:10.1371/journal.pone.0282553.

[Cognitive performance of preschoolers with Congenital Hypothyroidism enrolled in a follow-up program].

Ontiveros M E, González M JA, Rivera G R, et al.

Andes pediatrica : revista Chilena de pediatria 2023; (94(1)):62-69 doi:10.32641/andespediatr.v94i1.4356.

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.

Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.

Gorini F, Coi A, Pierini A, et al.

Children (Basel, Switzerland) 2024; (11(5)) doi:10.3390/children11050513.

Incidence rate and geographic distribution of congenital hypothyroidism in the southwest of Iran (Kohgiluyeh and Boyer Ahmad province) based on geographic information system since 2011-2020.

Ghatee MA, Manzouri L, Kheiri M, Parad M

BMC pediatrics 2024; (24(1)):790 doi:10.1186/s12887-024-05292-y.

Congenital hypothyroidism and associated visual-motor and intellectual development.

Ontiveros-Mendoza E, González-Medrano JA, Rivera-González R, et al.

Pediatric research 2025; (98(3)):1046-1055 doi:10.1038/s41390-025-03850-3.

Clinical Insight into Congenital Hypothyroidism Among Children.

Korkmaz HA

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

The Role of Neck Ultrasonography and Nuclear Imaging in the Diagnosis of Congenital Hypothyroidism.

Sumathy S, Palanivel S, Nagaraju K, et al.

Indian journal of endocrinology and metabolism 2024; (28(6)):611-616 doi:10.4103/ijem.ijem_7_24.

Impact of transfer from pediatric gastroenterology to adult gastroenterology care in eosinophilic esophagitis.

Webber KF, Slaughter JC, Patel DA, Hiremath G

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus 2025; (38(1)) doi:10.1093/dote/doaf012.

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.

50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Management during pregnancy and long-term outcomes of adult patients with congenital hypothyroidism.

Mégier C, Luton D, Stoupa A

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

Low serum thyroglobulin level in A 15-year-old girl with papillary thyroid cancer and multiple neck lymph nodes: a case report.

Barwari N, Sofronescu AG

Clinical biochemistry 2025; (139()):110977 doi:10.1016/j.clinbiochem.2025.110977.

Delayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism.

Al Alwan I, Alhawsawi KI

The American journal of case reports 2026; (27()):e948708 doi:10.12659/AJCR.948708.