Research & Literature

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

Tylki-Szymańska A, Acuna-Hidalgo R, Krajewska-Walasek M, et al.

Journal of medical genetics 2015; (52(5)):312-6 doi:10.1136/jmedgenet-2014-102936.

Median-lower normal levels of serum thyroxine are associated with low triiodothyronine levels and body temperature in patients with central hypothyroidism.

Hirata Y, Fukuoka H, Iguchi G, et al.

European journal of endocrinology 2015; (173(2)):247-56 doi:10.1530/EJE-15-0130.

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.

Asakura Y, Abe K, Muroya K, et al.

Hormone research in paediatrics 2015; (84(5)):349-54 doi:10.1159/000438672.

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.

A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.

Koulouri O, Nicholas AK, Schoenmakers E, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(3)):847-51 doi:10.1210/jc.2015-3916.

IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.

Joustra SD, Heinen CA, Schoenmakers N, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(4)):1627-36 doi:10.1210/jc.2015-3880.

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.

Molecular spectrum of TSHβ subunit gene defects in central hypothyroidism in the UK and Ireland.

Nicholas AK, Jaleel S, Lyons G, et al.

Clinical endocrinology 2017; (86(3)):410-418 doi:10.1111/cen.13149.

Liquid and softgel levothyroxine use in clinical practice: state of the art.

Virili C, Trimboli P, Romanelli F, Centanni M

Endocrine 2016; (54(1)):3-14 doi:10.1007/s12020-016-1035-1.

Mutations in TBL1X Are Associated With Central Hypothyroidism.

Heinen CA, Losekoot M, Sun Y, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(12)):4564-4573 doi:10.1210/jc.2016-2531.

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.

Nishigaki S, Hamazaki T, Fujita K, et al.

Thyroid : official journal of the American Thyroid Association 2016; (26(12)):1701-1705 doi:10.1089/thy.2016.0005.

Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey.

Baysal BT, Baysal B, Genel F, et al.

Indian pediatrics 2017; (54(5)):381-384.

Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.

García M, González de Buitrago J, Jiménez-Rosés M, et al.

The Journal of clinical endocrinology and metabolism 2017; (102(7)):2433-2442 doi:10.1210/jc.2016-3977.

A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome.

Dayal D, Giri D, Senniappan S

Annals of pediatric endocrinology & metabolism 2017; (22(1)):65-67 doi:10.6065/apem.2017.22.1.65.

Predictors of Caregiver Burden among Mothers of Children with Chronic Conditions.

Javalkar K, Rak E, Phillips A, et al.

Children (Basel, Switzerland) 2017; (4(5)) doi:10.3390/children4050039.

Central hypothyroidism - a neglected thyroid disorder.

Beck-Peccoz P, Rodari G, Giavoli C, Lania A

Nature reviews. Endocrinology 2017; (13(10)):588-598 doi:10.1038/nrendo.2017.47.

TSH and FT4 Concentrations in Congenital Central Hypothyroidism and Mild Congenital Thyroidal Hypothyroidism.

Zwaveling-Soonawala N, van Trotsenburg ASP, Verkerk PH

The Journal of clinical endocrinology and metabolism 2018; (103(4)):1342-1348 doi:10.1210/jc.2017-01577.

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.

[Hypothyroidism-when and how to treat?]

Koehler VF, Reincke M, Spitzweg C

Der Internist 2018; (59(7)):644-653 doi:10.1007/s00108-018-0438-x.

Central adrenal insufficiency in children and adolescents.

Patti G, Guzzeti C, Di Iorgi N, et al.

Best practice & research. Clinical endocrinology & metabolism 2018; (32(4)):425-444 doi:10.1016/j.beem.2018.03.012.

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.

Subclinical hypothyroidism or central hypothyroidism-The danger of thyroid function misinterpretation.

Anyiam O, Cheung B, Al-Sabbagh S

Clinical case reports 2018; (6(10)):1953-1957 doi:10.1002/ccr3.1694.

L-thyroxine malabsorption due to calcium carbonate impairs blood pressure, total cholesterolemia, and fasting glycemia.

Morini E, Catalano A, Lasco A, et al.

Endocrine 2019; (64(2)):284-292 doi:10.1007/s12020-018-1798-7.

2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism.

Persani L, Brabant G, Dattani M, et al.

European thyroid journal 2018; (7(5)):225-237 doi:10.1159/000491388.

The diagnosis and management of central hypothyroidism in 2018.

Persani L, Cangiano B, Bonomi M

Endocrine connections 2019; (8(2)):R44-R54.

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.

Recent advances in research on isolated congenital central hypothyroidism.

Tajima T, Nakamura A, Oguma M, Yamazaki M

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2019; (28(3)):69-79 doi:10.1297/cpe.28.69.

Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.

Sugisawa C, Takamizawa T, Abe K, et al.

The Journal of clinical endocrinology and metabolism 2019; (104(12)):6229-6237 doi:10.1210/jc.2019-00657.

Routine free thyroxine reference intervals are suboptimal for monitoring children on thyroxine replacement therapy and target intervals need to be assay-specific.

Wheeler E, Choy KW, Chin LK, et al.

Scientific reports 2019; (9(1)):19080 doi:10.1038/s41598-019-55690-x.

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Bulut FD, Özdemir Dilek S, Kotan D, et al.

Journal of clinical research in pediatric endocrinology 2020; (12(3)):261-268 doi:10.4274/jcrpe.galenos.2020.2019.0191.

Significant Burden and Psychological Distress Among Caregivers of Children With Nephrotic Syndrome: A Cross-Sectional Study.

Esezobor CI, Solarin AU, Olagunju AT

Canadian journal of kidney health and disease 2020; (7()):2054358119898016 doi:10.1177/2054358119898016.

Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.

Wang H, Kong X, Pei Y, et al.

Molecular medicine reports 2020; (22(1)):297-309 doi:10.3892/mmr.2020.11078.

Critical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands.

Stroek K, Heijboer AC, Bouva MJ, et al.

European journal of endocrinology 2020; (183(3)):265-273.

[Central hypothyroidism].

Petunina NA, Trukhina LV, Martirosian NS

Terapevticheskii arkhiv 2019; (91(10)):135-138 doi:10.26442/00403660.2019.10.000358.

Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.

Naafs JC, Verkerk PH, Fliers E, et al.

European journal of endocrinology 2020; (183(6)):627-636.

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.

Low free thyroxine and normal thyroid-stimulating hormone in infants and children: possible causes and diagnostic work-up.

Lauffer P, van Trotsenburg ASP, Zwaveling-Soonawala N

European journal of pediatrics 2021; (180(7)):2333-2338 doi:10.1007/s00431-021-03976-6.

Health-Related Quality of Life in Patients With Early-Detected Central Congenital Hypothyroidism.

Naafs JC, Marchal JP, Verkerk PH, et al.

The Journal of clinical endocrinology and metabolism 2021; (106(10)):e4231-e4241 doi:10.1210/clinem/dgab209.

Levothyroxine Interactions with Food and Dietary Supplements-A Systematic Review.

Wiesner A, Gajewska D, Paśko P

Pharmaceuticals (Basel, Switzerland) 2021; (14(3)) doi:10.3390/ph14030206.

Congenital isolated central hypothyroidism: Novel mutations and their functional implications.

Boelen A, van Trotsenburg ASP, Fliers E

Handbook of clinical neurology 2021; (180()):161-169 doi:10.1016/B978-0-12-820107-7.00010-0.

Treatment of congenital hypothyroidism: comparison between L-thyroxine oral solution and tablet formulations up to 3 years of age.

Vigone MC, Ortolano R, Vincenzi G, et al.

European journal of endocrinology 2021; (186(1)):45-52.

Pediatric Adrenal Insufficiency: Challenges and Solutions.

Nisticò D, Bossini B, Benvenuto S, et al.

Therapeutics and clinical risk management 2022; (18()):47-60 doi:10.2147/TCRM.S294065.

A Novel Levothyroxine Solution Results in Similar Bioavailability Whether Taken 30 or Just 15 Minutes Before a High-Fat High-Calorie Meal.

Ducharme M, Scarsi C, Bettazzi E, et al.

Thyroid : official journal of the American Thyroid Association 2022; (32(8)):897-904 doi:10.1089/thy.2021.0604.

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.

Biochemical and physiological insights into TRH receptor-mediated signaling.

Trubacova R, Drastichova Z, Novotny J

Frontiers in cell and developmental biology 2022; (10()):981452 doi:10.3389/fcell.2022.981452.

Congenital Hypothyroidism: Screening and Management.

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

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

Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.

Mushtaq T, Ali SR, Boulos N, et al.

Archives of disease in childhood 2023; (108(11)):871-878 doi:10.1136/archdischild-2022-325156.

Adrenal Failure: An Evidence-Based Diagnostic Approach.

Shaikh S, Nagendra L, Shaikh S, Pappachan JM

Diagnostics (Basel, Switzerland) 2023; (13(10)) doi:10.3390/diagnostics13101812.

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)).

Medications and Food Interfering with the Bioavailability of Levothyroxine: A Systematic Review.

Liu H, Lu M, Hu J, et al.

Therapeutics and clinical risk management 2023; (19()):503-523 doi:10.2147/TCRM.S414460.

Potential pitfalls in diagnosis of immunotherapy-induced hypothalamic-pituitary-adrenal axis abnormalities: a clinical case.

Bi Y, Adam S, Chatzimavridou V, et al.

Endocrine oncology (Bristol, England) 2022; (2(1)):K5-K9 doi:10.1530/EO-21-0023.

The TRH test provides valuable information in the diagnosis of central hypothyroidism in patients with known pituitary disease and low T4 levels.

Christensen SE, Smith LN, Rosendal CAH, et al.

Frontiers in endocrinology 2023; (14()):1226887 doi:10.3389/fendo.2023.1226887.

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.

Spousal support, parent-nurse partnership and caregiver burden among parents of children with chronic diseases: A cross-sectional study.

Kim J, Chae H, Kim Y

Journal of clinical nursing 2024; (33(7)):2649-2661 doi:10.1111/jocn.16985.

A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups.

Yamamura Y, Fukami M, Matsuyama M, Sawada H

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024; (33(1)):17-22 doi:10.1297/cpe.2023-0046.

Caregiver Burden and Depression in Parents of Children with Chronic Diseases.

Güven Baysal Ş, Çorabay S

Turkish archives of pediatrics 2024; (59(1)):70-77 doi:10.5152/TurkArchPediatr.2024.23126.

Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis.

German A, Almashanu S, de Vries L, et al.

The Journal of clinical endocrinology and metabolism 2025; (110(5)):e1653-e1659 doi:10.1210/clinem/dgae485.

Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.

González K, Eixarch T, Nuñez L, Ariceta G

Orphanet journal of rare diseases 2024; (19(1)):415 doi:10.1186/s13023-024-03417-1.

Caregiver burden, perceived stress, and social support among parents of chronically Ill children in Saudi Arabia.

Almulla H, Aljaloud O, Almulla H, Nasser S

BMC nursing 2024; (23(1)):811 doi:10.1186/s12912-024-02494-8.

Central Hypothyroidism: Advances in Etiology, Diagnostic Challenges, Therapeutic Targets, and Associated Risks.

Iglesias P

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2025; (31(5)):650-659 doi:10.1016/j.eprac.2025.02.004.

Evaluation of thyrotrophic and lactotrophic reserves in patients with pituitary dwarfism with and without empty sella turcica.

Geremia C, Geremia F

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(9)):904-914 doi:10.1515/jpem-2025-0082.

Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK.

Peters C, Wood C, Law JM, et al.

European thyroid journal 2026; (15(3)).

Central congenital hypothyroidism caused by TSHB gene mutation: a case report.

Andrade M, Lemos A, Mendonça C, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2026; (39(10)):1066-1069 doi:10.1515/jpem-2026-0074.

Immune Checkpoint Inhibitor-Induced Hypophysitis Presenting as Severe Hyponatremia: A Nephrology Perspective on Avoiding the Syndrome of Inappropriate Antidiuretic Hormone (SIADH) Pitfall.

Al Zein S

Cureus 2026; (18(5)):e109633 doi:10.7759/cureus.109633.

Diagnostic value of the TRH test for central hypothyroidism in patients with pituitary and parasellar tumors: a single-center retrospective cross-sectional study.

Buyandalai B, Takamizawa T, Horiguchi K, et al.

Pituitary 2026; (29(5)).

Refractory Pericardial Effusion Secondary to Central Hypothyroidism due to Empty Sella Syndrome: A Rare Case Report.

Mandal B, Subedi P, Yadav BK, et al.

Clinical case reports 2026; (14(10)):e73399 doi:10.1002/ccr3.73399.