Research & Literature

Recent advances in central congenital hypothyroidism.

Schoenmakers N, Alatzoglou KS, Chatterjee VK, Dattani MT

The Journal of endocrinology 2015; (227(3)):R51-71 doi:10.1530/JOE-15-0341.

Dual thyroid ectopia-role of thyroid scintigraphy and neck ultrasonography.

Jain TK, Meena RS, Bhatia A, et al.

Indian journal of nuclear medicine : IJNM : the official journal of the Society of Nuclear Medicine, India 2015; (30(4)):338-40 doi:10.4103/0972-3919.164023.

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.

Thyroid cancer in lingual thyroid and thyroglossal duct cyst.

Sturniolo G, Vermiglio F, Moleti M

Endocrinologia, diabetes y nutricion 2017; (64(1)):40-43 doi:10.1016/j.endonu.2016.07.010.

Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran.

Razavi Z, Mohammadi L

International journal of endocrinology and metabolism 2016; (14(4)):e38256 doi:10.5812/ijem.38256.

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.

Hearing thresholds and ventilation tube treatment in children with unilateral cleft lip and palate.

Tengroth B, Hederstierna C, Neovius E, Flynn T

International journal of pediatric otorhinolaryngology 2017; (97()):102-108 doi:10.1016/j.ijporl.2017.03.031.

Resistance to thyrotropin.

Grasberger H, Refetoff S

Best practice & research. Clinical endocrinology & metabolism 2017; (31(2)):183-194 doi:10.1016/j.beem.2017.03.004.

Novel Mutations in the NKX2.1 gene and the PAX8 gene in a Boy with Brain-Lung-Thyroid Syndrome.

Hermanns P, Kumorowicz-Czoch M, Grasberger H, et al.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2018; (126(2)):85-90 doi:10.1055/s-0043-119875.

Thyroid ectopy - diagnostic and therapeutic challenges before and in the era of TSH neonatal screening.

Szczepanek-Parulska E, Hernik A, Ruchała M

Endokrynologia Polska 2017; (68(6)):708-721 doi:10.5603/EP.a2017.0061.

Diagnostic re-evaluation of congenital hypothyroidism in Macedonia: predictors for transient or permanent hypothyroidism.

Zdraveska N, Zdravkovska M, Anastasovska V, et al.

Endocrine connections 2018; (7(2)):278-285 doi:10.1530/EC-17-0332.

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].

Castilla Peón MF

Boletin medico del Hospital Infantil de Mexico 2015; (72(2)):140-148 doi:10.1016/j.bmhimx.2015.05.001.

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.

[Neurodevelopmental assessment of patients with congenital hypothyroidism].

Núñez A, Bedregal P, Becerra C, Grob L F

Revista medica de Chile 2017; (145(12)):1579-1587 doi:10.4067/s0034-98872017001201579.

Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables.

Oron T, Lazar L, Ben-Yishai S, et al.

The Journal of clinical endocrinology and metabolism 2018; (103(12)):4428-4436 doi:10.1210/jc.2018-00362.

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters C, van Trotsenburg ASP, Schoenmakers N

European journal of endocrinology 2018; (179(6)):R297-R317 doi:10.1530/EJE-18-0383.

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.

Increased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening.

Kaluarachchi DC, Allen DB, Eickhoff JC, et al.

The Journal of pediatrics 2019; (207()):220-225 doi:10.1016/j.jpeds.2018.11.044.

[Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening].

Rodríguez Sánchez A, Chueca Guindulain MJ, Alija Merillas M, et al.

Anales de pediatria 2019; (90(4)):250.e1-250.e8 doi:10.1016/j.anpedi.2018.11.002.

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.

Screening and management of thyroid dysfunction in preterm infants.

Chung HR

Annals of pediatric endocrinology & metabolism 2019; (24(1)):15-21 doi:10.6065/apem.2019.24.1.15.

Congenital hypothyroidism presenting with reversible renal impairment: an under-recognised problem?

Essaddam L, Ben Mansour A, Missaoui N, et al.

Journal of diabetes and metabolic disorders 2019; (18(2)):733-738 doi:10.1007/s40200-019-00430-1.

Genetics of Gland-in-situ or Hypoplastic Congenital Hypothyroidism in Macedonia.

Zdraveska N, Kocova M, Nicholas AK, et al.

Frontiers in endocrinology 2020; (11()):413 doi:10.3389/fendo.2020.00413.

Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results.

Nascimento ML, Nascimento AL, Dornbusch P, et al.

Archives of endocrinology and metabolism 2021; (64(6)):816-823.

Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia.

Iwahashi-Odano M, Fujisawa Y, Ogata T, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020; (29(4)):173-178 doi:10.1297/cpe.29.173.

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.

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.

[Social, cognitive and psychomotor development in peruvian children with congenital hypothyroidism].

Herrera-Chinchay L, Silva-Ocas I, Castro-Silva N, Del Águila Villar C

Andes pediatrica : revista Chilena de pediatria 2021; (92(2)):235-240 doi:10.32641/andespediatr.v92i2.1955.

Newborn Screening for Congenital Hypothyroidism in Japan.

Minamitani K

International journal of neonatal screening 2021; (7(3)) doi:10.3390/ijns7030034.

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.

[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 in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.

Bontemps SH, Legagneur C, Guéant-Rodriguez RM, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(4)):353-363 doi:10.1515/jpem-2022-0101.

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.

[Pathogenic TSHR variants in children with thyroid dysgenesis].

Shreder EV, Vadina TA, Solodovnikova EN, et al.

Problemy endokrinologii 2023; (69(1)):76-85 doi:10.14341/probl13210.

Congenital hypothyroidism due to thyroid ectopy not detected in neonatal screening - case report.

Stępniewska A, Wójcik M, B Starzyk J

Pediatric endocrinology, diabetes, and metabolism 2023; (29(1)):53-56 doi:10.5114/pedm.2022.118322.

Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?

Boelen A, Zwaveling-Soonawala N, Heijboer AC, van Trotsenburg ASP

European thyroid journal 2023; (12(4)).

Two Cases of Congenital Hypothyroidism Revealing Thyroid Agenesis.

Năstase L, Cristea O, Diaconu A, et al.

Medicina (Kaunas, Lithuania) 2023; (59(10)) doi:10.3390/medicina59101887.

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.

Comparison between transient and permanent congenital hypothyroidism on a thyroid function test after re-evaluation.

Lee SH, Lee HG, Yang EM, Kim CJ

Annals of pediatric endocrinology & metabolism 2023; (28(4)):245-250 doi:10.6065/apem.2244260.130.

Normal intellectual ability and hyperprolactinemia as unique clinical manifestations of congenital hypothyroidism: A case report and review of hypotheses.

Zulfa PO, Debbyousha M, Sucipto KW, et al.

Narra J 2023; (3(3)):e205 doi:10.52225/narra.v3i3.205.

Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.

Emfietzoglou R, Muscogiuri G, Tsilingiris D, et al.

Minerva endocrinology 2024; (49(3)):335-350 doi:10.23736/S2724-6507.24.04219-2.

Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and review.

Amin Z, Aung WT, Ng YPM

Frontiers in pediatrics 2024; (12()):1464520 doi:10.3389/fped.2024.1464520.

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.

Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism.

Gwag SH, Park KH, Kang E, et al.

Annals of pediatric endocrinology & metabolism 2025; (30(3)):127-134 doi:10.6065/apem.2448164.082.

Three Siblings Born to the Same Mother with Varying Degrees of Strong Positivity for Blocking Type TSH Receptor Antibodies.

Fujikawa M, Kojima-Ishii K, Okamura K, et al.

Internal medicine (Tokyo, Japan) 2026; (65(7)):1011-1016 doi:10.2169/internalmedicine.5677-25.

The Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter Study in Algeria.

Djermane A, Ouarezki Y, Boulesnane K, et al.

International journal of neonatal screening 2025; (11(3)) doi:10.3390/ijns11030078.

Term birth and levothyroxine dosage are significant factors associated with permanent congenital hypothyroidism: experience from a medical center in Taiwan.

Kao YE, Ting WH, Lee YJ, et al.

BMC pediatrics 2025; (25(1)):814 doi:10.1186/s12887-025-06199-y.

Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.

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

International journal of molecular sciences 2025; (26(22)) doi:10.3390/ijms262210849.

Improvements in screening test, diagnosis, and outcomes of children with congenital hypothyroidism: lessons learned from 50 years of newborn screening.

Salerno M, Vigone MC, Cassio A, et al.

Endocrine 2026; (91(1)).