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Prevalence of congenital hypothyroidism in infants of mothers with hypothyroidism: a meta-analysis

  • Shree Dheera Yarlagadda , Dhananjaya Melkunte Shanthaiah , Shruthi Ravindra and Vijaya Sarathi ORCID logo EMAIL logo
Published/Copyright: December 1, 2025
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism

Abstract

The prevalence of congenital hypothyroidism (CH) in infants of mothers with hypothyroidism has been described but a comprehensive prevalence estimation is lacking. The comprehensive analyses of subtyping, quantum of excess risk in comparison to those born to euthyroid mothers and association with thyroid antibodies are also lacking. This systematic review and meta-analysis aimed to estimate the pooled prevalence of CH in infants born to mothers with hypothyroidism. PubMed database was searched from inception to February 2025 using the search terms’ ((congenital hypothyroidism) and (maternal hypothyroidism)) or (mothers with hypothyroidism)’. Of 2097 initially identified articles, 18 met inclusion criteria, encompassing 11,242 infants of mothers with hypothyroidism. CH diagnoses were classified as transient (TCH) or permanent (PCH). The overall pooled prevalence of CH among infants of mothers with hypothyroidism was 0.003767 (95 % CI: 0.001796–0.005637). TCH accounted for Prevalence of TCH was 0.001867 (95 % CI: 0.000674–0.003060) whereas that of PCH was 0.001429 (0.000386–0.002473). Infants of hypothyroid mothers exhibited significantly increased risk of CH (OR: 3.48, 95 % CI: 1.25–9.65) than those of euthyroid mothers. Maternal thyroid antibody status (TPOAb positivity) did not significantly influence CH prevalence (OR: 0.97, 95 % CI: 0.19–4.81). In conclusion, infants of mothers with hypothyroidism have a substantially higher prevalence (1 in 265) than that reported in the general population. The risk was also 3.5 times higher in the systematic review. However, no association between maternal thyroid antibodies and CH was observed, emphasizing a need to explore alternative pathogenetic mechanisms.

Keywords: congenital hypothyroidism; maternal hypothyroidism; TPO antibodies
Corresponding author: Vijaya Sarathi, Professor and HOD, Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, 560066, Karnataka, India, E-mail:

  1. Research ethics: Not applicable.

  2. Informed consent: Not applicable.

  3. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Use of Large Language Models, AI and Machine Learning Tools: None declared.

  5. Conflict of interest: The authors state no conflict of interest.

  6. Research funding: None declared.

  7. Data availability: The datasets generated and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Supplementary Material

This article contains supplementary material (https://doi.org/10.1515/jpem-2025-0288).

Received: 2025-05-24
Accepted: 2025-10-28
Published Online: 2025-12-01

© 2025 Walter de Gruyter GmbH, Berlin/Boston

https://doi.org/10.1515/jpem-2025-0288
Keywords for this article
congenital hypothyroidism; maternal hypothyroidism; TPO antibodies
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