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Review
. 2023;32(1):11-25.
doi: 10.1297/cpe.2022-0016. Epub 2022 Nov 18.

Knowns and unknowns about congenital hypothyroidism: 2022 update

Tomoyo Itonaga  1 , Yukihiro Hasegawa  2 , Shinji Higuchi  3 , Mari Satoh  4 , Hirotake Sawada  5 , Kazuhiro Shimura  6 , Ikuko Takahashi  7 , Noriyuki Takubo  8 , Keisuke Nagasaki  9
Affiliations
Review

Knowns and unknowns about congenital hypothyroidism: 2022 update

Tomoyo Itonaga et al. Clin Pediatr Endocrinol. 2023.

Abstract

Several excellent guidelines and expert opinions on congenital hypothyroidism (CH) are currently available. Nonetheless, these guidelines do not address several issues related to CH in detail. In this review, the authors chose the following seven clinical issues that they felt were especially deserving of closer scrutiny in the hope that drawing attention to them through discussion would help pediatric endocrinologists and promote further interest in the treatment of CH. 1. How high should the levothyroxine (L-T4) dose be for initial treatment of severe and permanent CH? 2. What is the optimal method for monitoring treatment of severe CH? 3. At what level does maternal iodine intake during pregnancy affect fetal and neonatal thyroid function? 4. Does serum thyroglobulin differ between patients with a dual oxidase 2 (DUOX2) variants and those with excess iodine? 5. Who qualifies for a genetic diagnosis? 6. What is the best index for distinguishing transient and permanent CH? 7. Is there any cancer risk associated with CH? The authors discussed these topics and jointly edited the manuscript to improve the understanding of CH and related issues.

Keywords: congenital hypothyroidism; iodine; levothyroxine; molecular genetics; the dual oxidase 2 (DUOX2).

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Conflict of interest statement

The authors have no conflicts of interest.

Figures

Fig. 1.
Fig. 1.
Dot chart of serum Tg in patients with hypothyroidism with biallelic DUOX2 variants or iodine excess. The left chart shows the DUOX2 variant, and the right chart shows iodine excess. The values were drawn from previous reports (39, 54,55,56,57).
See this image and copyright information in PMC

References

    1. Rose SR, Brown RS, Foley T, Kaplowitz PB, Kaye CI, Sundararajan S, et al. American Academy of PediatricsSection on Endocrinology and Committee on Genetics, American Thyroid AssociationPublic Health Committee, Lawson Wilkins Pediatric Endocrine Society. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics 2006;117: 2290–303. doi: 10.1542/peds.2006-0915 - DOI - PubMed
    1. Léger J, Olivieri A, Donaldson M, Torresani T, Krude H, van Vliet G, et al. . ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAECongenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab 2014;99: 363–84. doi: 10.1210/jc.2013-1891 - DOI - PMC - PubMed
    1. Nagasaki K, Minamitani K, Anzo M, Adachi M, Ishii T, Onigata K, et al. . Mass Screening CommitteeJapanese Society for Pediatric EndocrinologyJapanese Society for Mass Screening. Guidelines for mass screening of congenital hypothyroidism (2014 revision). Clin Pediatr Endocrinol 2015;24: 107–33. doi: 10.1297/cpe.24.107 - DOI - PMC - PubMed
    1. van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, et al. . 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. Thyroid 2021;31: 387–419. doi: 10.1089/thy.2020.0333 - DOI - PMC - PubMed
    1. van der Sluijs Veer L, Kempers MJ, Wiedijk BM, Last BF, Grootenhuis MA, Vulsma T. Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening. J Dev Behav Pediatr 2012;33: 633–40. doi: 10.1097/DBP.0b013e3182690727 - DOI - PubMed