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Thyroid dysgenesis

MedGen UID:
289647
•Concept ID:
C1563716
•
Congenital Abnormality
Synonyms: Dysgenesis, Thyroid; Thyroid Dysgenesis
 
HPO: HP:0008188
OMIM®: 218700

Definition

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis. In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (Macchia et al., 1998). [from OMIM]

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
•Concept ID:
C0265220
•
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
See: Condition Record
Pallister-Hall syndrome

Professional guidelines

PubMed

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
Evaluation and management of the child with hypothyroidism.
Leung AKC, Leung AAC
World J Pediatr 2019 Apr;15(2):124-134. Epub 2019 Feb 8 doi: 10.1007/s12519-019-00230-w. PMID: 30734891
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
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.
Wang F, Zang Y, Li M, Liu W, Wang Y, Yu X, Li H, Wang F, Liu S
Front Endocrinol (Lausanne) 2020;11:237. Epub 2020 Apr 21 doi: 10.3389/fendo.2020.00237. PMID: 32425884Free PMC Article
Congenital Hypothyroidism.
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Fetal thyroïdology.
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859

Diagnosis

Congenital Hypothyroidism.
Brady J, Cannupp A, Myers J, Jnah AJ
Neonatal Netw 2021 Nov 1;40(6):377-385. doi: 10.1891/11-T-699. PMID: 34845088
Resistance to Thyroid Hormone Beta: A Focused Review.
Pappa T, Refetoff S
Front Endocrinol (Lausanne) 2021;12:656551. Epub 2021 Mar 31 doi: 10.3389/fendo.2021.656551. PMID: 33868182Free PMC Article
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
Congenital Hypothyroidism.
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999

Therapy

Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.
Klosinska M, Kaczynska A, Ben-Skowronek I
Front Endocrinol (Lausanne) 2022;13:860862. Epub 2022 Mar 18 doi: 10.3389/fendo.2022.860862. PMID: 35370986Free PMC Article
Congenital Hypothyroidism.
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Fetal thyroïdology.
Polak M, Luton D
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):161-73. Epub 2013 Jun 6 doi: 10.1016/j.beem.2013.04.013. PMID: 24629859
Congenital hypothyroidism.
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article

Prognosis

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
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.
Wang F, Zang Y, Li M, Liu W, Wang Y, Yu X, Li H, Wang F, Liu S
Front Endocrinol (Lausanne) 2020;11:237. Epub 2020 Apr 21 doi: 10.3389/fendo.2020.00237. PMID: 32425884Free PMC Article
Congenital Hypothyroidism.
Wassner AJ
Clin Perinatol 2018 Mar;45(1):1-18. doi: 10.1016/j.clp.2017.10.004. PMID: 29405999
Disorders of thyroid morphogenesis.
Abu-Khudir R, Larrivée-Vanier S, Wasserman JD, Deladoëy J
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):143-159. Epub 2017 Apr 21 doi: 10.1016/j.beem.2017.04.008. PMID: 28648504
Congenital hypothyroidism.
Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182Free PMC Article

Clinical prediction guides

Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C, Narumi S, Tanase-Nakao K, Hoshiyama A, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K
Thyroid 2023 May;33(5):556-565. Epub 2023 Apr 21 doi: 10.1089/thy.2022.0481. PMID: 36792927
Thyroid function and dysfunction in preterm infants-Challenges in evaluation, diagnosis and therapy.
Zdraveska N, Kocova M
Clin Endocrinol (Oxf) 2021 Oct;95(4):556-570. Epub 2021 Apr 25 doi: 10.1111/cen.14481. PMID: 33864279
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
Thyroid Hemiagenesis: Incidence, Clinical Significance, and Genetic Background.
Szczepanek-Parulska E, Zybek-Kocik A, Wartofsky L, Ruchala M
J Clin Endocrinol Metab 2017 Sep 1;102(9):3124-3137. doi: 10.1210/jc.2017-00784. PMID: 28666345

Recent systematic reviews

A systematic review of the outcomes of false-positive results on newborn screening for congenital hypothyroidism.
Rosettenstein KR, Lain SJ, Wormleaton N, Jack MM
Clin Endocrinol (Oxf) 2021 Nov;95(5):766-781. Epub 2021 Jul 23 doi: 10.1111/cen.14562. PMID: 34302303
The molecular causes of thyroid dysgenesis: a systematic review.
Nettore IC, Cacace V, De Fusco C, Colao A, Macchia PE
J Endocrinol Invest 2013 Sep;36(8):654-64. Epub 2013 May 22 doi: 10.3275/8973. PMID: 23698639

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