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Familial thyroid dyshormonogenesis

MedGen UID:
903446
•Concept ID:
C4273748
•
Disease or Syndrome
Synonyms: familial thyroid dyshormonogenesis; nongoitrous hyperthyrotropinemia; Thyroid Dyshormonogenesis; Thyroid dyshormonogenesis; thyroid dyshormonogenesis
SNOMED CT: Familial thyroid dyshormonogenesis (718183003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010132
OMIM® Phenotypic series: PS274400
Orphanet: ORPHA95716

Definition

A type of primary congenital hypothyroidism a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. Clinical manifestations are those of other forms of congenital hypothyroidism. In addition to features of hypothyroidism, patients can present with goitre. Caused by hereditary defects in the steps of thyroid hormone synthesis and secretion, the majority of which are transmitted in an autosomal recessive manner but at least one condition has autosomal dominant inheritance. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Familial thyroid dyshormonogenesis

Professional guidelines

PubMed

Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing.
Shin JH, Kim HY, Kim YM, Lee H, Bae MH, Park KH, Lee SM, Kwak MJ
Ann Clin Lab Sci 2021 Jan;51(1):73-81. PMID: 33653783
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, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article

Recent clinical studies

Etiology

Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
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, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
Cannizzaro M, Jarošová J, De Paepe B
J Appl Genet 2019 Nov;60(3-4):305-317. Epub 2019 Jul 8 doi: 10.1007/s13353-019-00502-1. PMID: 31286439
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article
Disorders of thyroid gland in India.
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808

Diagnosis

Genetics of primary congenital hypothyroidism-a review.
Kostopoulou E, Miliordos K, Spiliotis B
Hormones (Athens) 2021 Jun;20(2):225-236. Epub 2021 Jan 5 doi: 10.1007/s42000-020-00267-x. PMID: 33400193
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, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
Iodide handling disorders (NIS, TPO, TG, IYD).
Targovnik HM, Citterio CE, Rivolta CM
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):195-212. Epub 2017 Apr 4 doi: 10.1016/j.beem.2017.03.006. PMID: 28648508
Defects of Thyroid Hormone Synthesis and Action.
Hannoush ZC, Weiss RE
Endocrinol Metab Clin North Am 2017 Jun;46(2):375-388. Epub 2017 Mar 6 doi: 10.1016/j.ecl.2017.01.005. PMID: 28476227Free PMC Article
Genetics of congenital hypothyroidism.
Park SM, Chatterjee VK
J Med Genet 2005 May;42(5):379-89. doi: 10.1136/jmg.2004.024158. PMID: 15863666Free PMC Article

Therapy

Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.
Gong L, Yang N, Zhao J, Tang Y, Li L, Yang H, Kong Y
J Pediatr Endocrinol Metab 2022 Jun 27;35(6):741-748. Epub 2022 Apr 20 doi: 10.1515/jpem-2022-0052. PMID: 35438852
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D
J Clin Endocrinol Metab 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711. PMID: 33029631
Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism.
Martín M, Bernal Barquero CE, Geysels RC, Papendieck P, Peyret V, Masini-Repiso AM, Chiesa AE, Nicola JP
Thyroid 2019 Jul;29(7):1023-1026. Epub 2019 Jul 2 doi: 10.1089/thy.2019.0046. PMID: 31115276
Disorders of H(2)O(2) generation.
Muzza M, Fugazzola L
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):225-240. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.006. PMID: 28648510
Biochemical, radiological, and genetic characterization of congenital hypothyroidism in Abu Dhabi, United Arab Emirates.
Deeb A, Elkadry I, Attia S, Al Suwaidi H, Obaid L, Schoenmakers NA
J Pediatr Endocrinol Metab 2016 Jul 1;29(7):801-6. doi: 10.1515/jpem-2015-0275. PMID: 27060741

Prognosis

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM
Endocrine 2022 Jun;77(1):86-101. Epub 2022 May 4 doi: 10.1007/s12020-022-03054-3. PMID: 35507000
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N, Zou M, BinEssa HA, Abdi S, Al-Enezi AF, Meyer BF, Alzahrani AS, Shi Y
J Clin Endocrinol Metab 2022 Feb 17;107(3):e1263-e1276. doi: 10.1210/clinem/dgab737. PMID: 34632506
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, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.
Hermanns P, Claßen C, Pohlenz J
Thyroid 2020 Dec;30(12):1831-1833. Epub 2020 Jul 16 doi: 10.1089/thy.2020.0293. PMID: 32486989
Disorders of thyroid gland in India.
Desai MP
Indian J Pediatr 1997 Jan-Feb;64(1):11-20. doi: 10.1007/BF02795771. PMID: 10771808

Clinical prediction guides

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Molina MF, Papendieck P, Sobrero G, Balbi VA, Belforte FS, Martínez EB, Adrover E, Olcese MC, Chiesa A, Miras MB, González VG, Pio MG, González-Sarmiento R, Targovnik HM, Rivolta CM
Endocrine 2022 Jun;77(1):86-101. Epub 2022 May 4 doi: 10.1007/s12020-022-03054-3. PMID: 35507000
Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism.
Gong L, Yang N, Zhao J, Tang Y, Li L, Yang H, Kong Y
J Pediatr Endocrinol Metab 2022 Jun 27;35(6):741-748. Epub 2022 Apr 20 doi: 10.1515/jpem-2022-0052. PMID: 35438852
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, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M
Thyroid 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. PMID: 33272083Free PMC Article
A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism.
Hermanns P, Claßen C, Pohlenz J
Thyroid 2020 Dec;30(12):1831-1833. Epub 2020 Jul 16 doi: 10.1089/thy.2020.0293. PMID: 32486989
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F, Zhang JX, Yang CY, Gao GQ, Zhu WB, Han B, Zhang LL, Wan YY, Ye XP, Ma YR, Zhang MM, Yang L, Zhang QY, Liu W, Guo CC, Chen G, Zhao SX, Song KY, Song HD
Eur J Endocrinol 2018 Jun;178(6):623-633. Epub 2018 Apr 12 doi: 10.1530/EJE-17-1017. PMID: 29650690Free PMC Article

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