Update on congenital hypothyroidism

Cherella, Christine E.; Wassner, Ari J.

doi:10.1097/med.0000000000000520

Cited by 61Thyroid Disorders and TreatmentsMetabolism and Genetic DisordersGenomics and Rare Diseases

Update on congenital hypothyroidism

Cherella, Christine E., Wassner, Ari J.·2020·Current Opinion in Endocrinology, Diabetes & Obesity

DOI 10.1097/med.0000000000000520

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Abstract

PURPOSE OF REVIEW: The present review summarizes recent advances in the diagnosis and management of patients with congenital hypothyroidism. RECENT FINDINGS: Although most newborn screening strategies are designed to detect severe primary hypothyroidism that presents shortly after birth, some infants display a pattern of delayed TSH rise despite normal initial newborn screening. Recent studies suggest that delayed TSH rise may be more common and more severe than previously recognized. Although much less common than primary hypothyroidism, central congenital hypothyroidism is as likely to be of moderate or severe degree, which has implications for its detection and treatment. The discovery of new genetic causes of central congenital hypothyroidism, including the X-linked genes IGSF1, TBL1X, and IRS4, has begun to expand our understanding of thyroid axis regulation. Recent long-term data indicate that current treatment recommendations for congenital hypothyroidism result in grossly normal neurocognitive outcomes even in severely affected patients, and that overtreatment may not be as harmful as previously suspected. Liquid levothyroxine is now commercially available in the United States, but more studies are needed to determine optimal dosing using this formulation. SUMMARY: Prompt identification and adequate treatment of patients with congenital hypothyroidism is critical to optimize outcomes. New information continues to accumulate about how to improve detection of congenital hypothyroidism in specific subgroups of infants (particularly those with delayed TSH rise and central hypothyroidism) and about treatment of patients with this disorder.

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The dose may be reduced, since liquid LT4 at an equivalent dose can lead to increased TSH suppression.
“Notably, the dose may be reduced, since liquid LT4 at an equivalent dose can lead to increased TSH suppression (192).”
From Levothyroxine: conventional and novel drug delivery formulations. (2023) · cites this paper as [192]

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Levothyroxine: conventional and novel drug delivery formulations.
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Authors: Cherella, C. E., & Wassner, A. J.
Affiliations: Boston Children's Hospital (US)
Corresponding author: Wassner, Ari J.
ORCID: Cherella, Christine E.
Wassner, Ari J.
Venue: Current Opinion in Endocrinology, Diabetes & Obesity
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2020-02
Volume: 27
Issue: 1
Pages: 63-69
ISSN: 1752-296X (ISSN-L)
1752-2978
DOI: 10.1097/med.0000000000000520
OpenAlex: W2990979833
Cited by: 61
References: 44
Citations by year: 2026: 3 · 2025: 6 · 2024: 8 · 2023: 11 · 2022: 19 · 2021: 9 · 2020: 4
FWCI: 1.23
Type: journal article
Language: en
Open access: closed
Locations: Current Opinion in Endocrinology Diabetes and Obesity (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: congenital hypothyroidism, newborn screening, IGSF1, IRS4, levothyroxine, overtreatment, neuropsychological outcomes
MeSH terms: Congenital Hypothyroidism, Genetic Testing, Humans, Infant, Infant, Newborn, Thyrotropin, Thyroxine, Neonatal Screening

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Update on congenital hypothyroidism

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