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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

Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.
Park J, Joo EY, Yoo MJ, Kim SJ, Jang W, Lee JE
Medicine (Baltimore) 2024 Jul 19;103(29):e38976. doi: 10.1097/MD.0000000000038976. PMID: 39029043Free PMC Article
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

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

Immune Checkpoint Inhibitor Use During Pregnancy and Outcomes in Pregnant Individuals and Newborns.
Gougis P, Hamy AS, Jochum F, Bihan K, Carbonnel M, Salem JE, Dumas E, Kabirian R, Grandal B, Barraud S, Coussy F, Hotton J, Savarino R, Marabelle A, Cadranel J, Spano JP, Laas E, Reyal F, Abbar B
JAMA Netw Open 2024 Apr 1;7(4):e245625. doi: 10.1001/jamanetworkopen.2024.5625. PMID: 38630478Free PMC Article
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

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

Immune Checkpoint Inhibitor Use During Pregnancy and Outcomes in Pregnant Individuals and Newborns.
Gougis P, Hamy AS, Jochum F, Bihan K, Carbonnel M, Salem JE, Dumas E, Kabirian R, Grandal B, Barraud S, Coussy F, Hotton J, Savarino R, Marabelle A, Cadranel J, Spano JP, Laas E, Reyal F, Abbar B
JAMA Netw Open 2024 Apr 1;7(4):e245625. doi: 10.1001/jamanetworkopen.2024.5625. PMID: 38630478Free PMC Article
High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.
Özer Y, Anık A, Sayılı U, Tercan U, Deveci Sevim R, Güneş S, Buhur Pirimoğlu M, Elmaoğulları S, Dündar I, Ökdemir D, Besci Ö, Jalilova A, Çiçek D, Singin B, Ulu ŞE, Turan H, Albayrak S, Kocabey Sütçü Z, Eklioğlu BS, Eren E, Çetinkaya S, Savaş-Erdeve Ş, Esen I, Demir K, Darcan Ş, Hatipoğlu N, Parlak M, Dursun F, Şıklar Z, Berberoğlu M, Keskin M, Orbak Z, Tezel B, Yürüker E, Keskinkılıç B, Kara F, Erginöz E, Darendeliler F, Evliyaoğlu O
J Endocrinol Invest 2024 Sep;47(9):2213-2224. Epub 2024 Mar 28 doi: 10.1007/s40618-024-02348-9. PMID: 38546931Free 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
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 after topical iodine in pregnancy and lactation.
Danziger Y, Pertzelan A, Mimouni M
Arch Dis Child 1987 Mar;62(3):295-6. doi: 10.1136/adc.62.3.295. PMID: 3566323Free PMC Article

Prognosis

High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.
Özer Y, Anık A, Sayılı U, Tercan U, Deveci Sevim R, Güneş S, Buhur Pirimoğlu M, Elmaoğulları S, Dündar I, Ökdemir D, Besci Ö, Jalilova A, Çiçek D, Singin B, Ulu ŞE, Turan H, Albayrak S, Kocabey Sütçü Z, Eklioğlu BS, Eren E, Çetinkaya S, Savaş-Erdeve Ş, Esen I, Demir K, Darcan Ş, Hatipoğlu N, Parlak M, Dursun F, Şıklar Z, Berberoğlu M, Keskin M, Orbak Z, Tezel B, Yürüker E, Keskinkılıç B, Kara F, Erginöz E, Darendeliler F, Evliyaoğlu O
J Endocrinol Invest 2024 Sep;47(9):2213-2224. Epub 2024 Mar 28 doi: 10.1007/s40618-024-02348-9. PMID: 38546931Free PMC Article
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

Clinical prediction guides

Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.
Park J, Joo EY, Yoo MJ, Kim SJ, Jang W, Lee JE
Medicine (Baltimore) 2024 Jul 19;103(29):e38976. doi: 10.1097/MD.0000000000038976. PMID: 39029043Free PMC Article
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

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

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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