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Transient congenital hypothyroidism

MedGen UID:
820541
•Concept ID:
C3827793
•
Disease or Syndrome
Synonyms: hypothyroxinemia of prematurity; THOP; transient congenital hypothyroidism; Transient Hypothyroxinemia of Prematurity; transient hypothyroxinemia of prematurity
 
Monarch Initiative: MONDO:0015792
Orphanet: ORPHA178045

Definition

A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTransient congenital hypothyroidism

Professional guidelines

PubMed

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 (Baltimore) 2023 Dec 22;102(51):e36778. doi: 10.1097/MD.0000000000036778. PMID: 38134076Free PMC Article
Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.
Donbaloğlu Z, Çetinkaya S, Aycan Z, Karacan Küçükali G, Şakar M, Savaş-Erdeve Ş
J Paediatr Child Health 2022 Aug;58(8):1431-1438. Epub 2022 Jun 10 doi: 10.1111/jpc.16025. PMID: 35686887
Three-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism.
Kang MJ, Chung HR, Oh YJ, Shim YS, Yang S, Hwang IT
Pediatr Neonatol 2017 Oct;58(5):442-448. Epub 2017 Mar 27 doi: 10.1016/j.pedneo.2017.01.002. PMID: 28412200

Curated

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated TSH (Primary TSH test), Congenital Hypothyroidism, 2012

American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2009

Recent clinical studies

Etiology

Risk Factors of Congenital Hypothyroidism in Israel.
Abbasi R, Harari-Kremer R, Haim A, Raz R
Isr Med Assoc J 2022 Dec;25(12):808-814. PMID: 36573774
Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.
Donbaloğlu Z, Çetinkaya S, Aycan Z, Karacan Küçükali G, Şakar M, Savaş-Erdeve Ş
J Paediatr Child Health 2022 Aug;58(8):1431-1438. Epub 2022 Jun 10 doi: 10.1111/jpc.16025. PMID: 35686887
Congenital Hypothyroidism Can Dictate the Mode of Delivery and Intra-Labor Medication Usage.
Rosen G, Lavie A, Yackobovitch-Gavan M, Almashanu S, Priel M, Many A, Lebenthal Y, Brener A
Thyroid 2021 Dec;31(12):1878-1885. Epub 2021 Nov 5 doi: 10.1089/thy.2021.0388. PMID: 34617463
Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course.
Kara C, Günindi F, Can Yılmaz G, Aydın M
J Clin Res Pediatr Endocrinol 2016 Jun 5;8(2):170-9. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2345. PMID: 27086592Free PMC Article

Diagnosis

Comparison of developmental outcomes in children with permanent and transient congenital hypothyroidism.
Büyükavcı MA, Dundar I
J Pediatr Endocrinol Metab 2023 Apr 25;36(4):364-370. Epub 2023 Feb 17 doi: 10.1515/jpem-2022-0539. PMID: 36794655
Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.
Donbaloğlu Z, Çetinkaya S, Aycan Z, Karacan Küçükali G, Şakar M, Savaş-Erdeve Ş
J Paediatr Child Health 2022 Aug;58(8):1431-1438. Epub 2022 Jun 10 doi: 10.1111/jpc.16025. PMID: 35686887
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499

Therapy

Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.
Donbaloğlu Z, Çetinkaya S, Aycan Z, Karacan Küçükali G, Şakar M, Savaş-Erdeve Ş
J Paediatr Child Health 2022 Aug;58(8):1431-1438. Epub 2022 Jun 10 doi: 10.1111/jpc.16025. PMID: 35686887
Prevalence and Determinants of Transient Congenital Hypothyroidism in Children With Eutopic Gland in France: A Retrospective Cohort Study.
Barry Y, Mandereau-Bruno L, Bonaldi C, Cheillan D, Coutant R, Léger J, Regnault N
J Clin Endocrinol Metab 2022 Mar 24;107(4):e1501-e1509. doi: 10.1210/clinem/dgab854. PMID: 34850038
Congenital Hypothyroidism Can Dictate the Mode of Delivery and Intra-Labor Medication Usage.
Rosen G, Lavie A, Yackobovitch-Gavan M, Almashanu S, Priel M, Many A, Lebenthal Y, Brener A
Thyroid 2021 Dec;31(12):1878-1885. Epub 2021 Nov 5 doi: 10.1089/thy.2021.0388. PMID: 34617463
Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China.
Chen SH, Yang BC, Li JY, Xu P, Wang F
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1139-1146. Epub 2021 Jun 28 doi: 10.1515/jpem-2020-0733. PMID: 34171937
Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables.
Oron T, Lazar L, Ben-Yishai S, Tenenbaum A, Yackobovitch-Gavan M, Meyerovitch J, Phillip M, Lebenthal Y
J Clin Endocrinol Metab 2018 Dec 1;103(12):4428-4436. doi: 10.1210/jc.2018-00362. PMID: 30272179

Prognosis

Risk Factors of Congenital Hypothyroidism in Israel.
Abbasi R, Harari-Kremer R, Haim A, Raz R
Isr Med Assoc J 2022 Dec;25(12):808-814. PMID: 36573774
Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.
Donbaloğlu Z, Çetinkaya S, Aycan Z, Karacan Küçükali G, Şakar M, Savaş-Erdeve Ş
J Paediatr Child Health 2022 Aug;58(8):1431-1438. Epub 2022 Jun 10 doi: 10.1111/jpc.16025. PMID: 35686887
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
Transient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course.
Kara C, Günindi F, Can Yılmaz G, Aydın M
J Clin Res Pediatr Endocrinol 2016 Jun 5;8(2):170-9. Epub 2016 Apr 18 doi: 10.4274/jcrpe.2345. PMID: 27086592Free PMC Article

Clinical prediction guides

Iatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Chooprasertsuk N, Dejkhamron P, Unachak K, Wejaphikul K
J Pediatr Endocrinol Metab 2022 Oct 26;35(10):1250-1256. Epub 2022 Sep 14 doi: 10.1515/jpem-2022-0152. PMID: 36100363
Evaluation of permanent and transient congenital hypothyroidism in cases referred from National Neonatal Screening Program.
Donbaloğlu Z, Çetinkaya S, Aycan Z, Karacan Küçükali G, Şakar M, Savaş-Erdeve Ş
J Paediatr Child Health 2022 Aug;58(8):1431-1438. Epub 2022 Jun 10 doi: 10.1111/jpc.16025. PMID: 35686887
MECHANISMS IN ENDOCRINOLOGY: The pathophysiology of transient congenital hypothyroidism.
Peters C, Schoenmakers N
Eur J Endocrinol 2022 Jun 20;187(2):R1-R16. doi: 10.1530/EJE-21-1278. PMID: 35588090Free PMC Article
DUOX Defects and Their Roles in Congenital Hypothyroidism.
De Deken X, Miot F
Methods Mol Biol 2019;1982:667-693. doi: 10.1007/978-1-4939-9424-3_37. PMID: 31172499
Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables.
Oron T, Lazar L, Ben-Yishai S, Tenenbaum A, Yackobovitch-Gavan M, Meyerovitch J, Phillip M, Lebenthal Y
J Clin Endocrinol Metab 2018 Dec 1;103(12):4428-4436. doi: 10.1210/jc.2018-00362. PMID: 30272179

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated TSH (Primary TSH test), Congenital Hypothyroidism, 2012
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Congenital Hypothyroidism (T4), 2009

    Reviews

    Related information

    • PubMed
      Related literature resources in PubMed

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