ArticleThe Journal of clinical endocrinology and metabolism2017
Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
Article in The Journal of clinical endocrinology and metabolism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.Archives of endocrinology and metabolism · 2026Article
- Maternal Resistance to Thyroid Hormone β and Pregnancy Outcomes.The Journal of clinical endocrinology and metabolism · 2023Article
- Thyroid Hormone Resistance Syndrome: From Molecular Mechanisms to Its Potential Contribution to Hypertension.Cureus · 2023Review
- The Relationship Between FetalThyroid : official journal of the American Thyroid Association · 2023Article
- Epigenetic developmental programming and intergenerational effects of thyroid hormones.Vitamins and hormones · 2023Review
- Resistance to Thyroid Hormone Beta: A Focused Review.Frontiers in endocrinology · 2021Review
- Update on resistance to thyroid hormone syndromeβ.Italian journal of pediatrics · 2020Review
- Physiologic Significance of Epigenetic Regulation of Thyroid Hormone Target Gene Expression.European thyroid journal · 2020Review
- Thyroid hormone resistance from newborns to adults: a Spanish experience.Journal of endocrinological investigation · 2019Article
- The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.European journal of endocrinology · 2018Article
- Resistance to Thyroid Hormone Due to a Missense Heterozygous Mutation in theAACE endocrinology and diabetesArticle
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Context: Resistance to thyroid hormone-β (RTH-β) is an autosomal dominant disorder characterized by reduced sensitivity of target tissues to thyroid hormones (THs). Individuals with RTH-β have high TH levels usually due to mutations in the TH receptor-β (THRB) gene. The management of RTH-β during pregnancy is challenging, as wild-type (WT) fetuses born to RTH-β mothers have low birth weight and suppressed postnatal thyroid-stimulating hormone (TSH), due to intrauterine exposure to excess TH. Objective: To determine birth weight and postnatal TSH of WT fetuses carried by mothers with RTH-β whose fT4 levels were maintained below 20% of the upper limit of normal (ULN). Design: Retrospective chart review. Setting: Academic institution in collaboration with off-site hospitals and private practices. Patients: Thirteen women harboring THRB gene mutations were evaluated during 18 pregnancies. Intervention: Prenatal genetic diagnosis by amniocentesis. Women carrying WT fetuses were given the option of treatment with antithyroid medication by their treating physicians with the aim to avoid serum fT4 levels above 20% of the ULN. Results: No significant difference was found in birth weight corrected for gestational age and in serum TSH levels at birth between WT and RTH-β infants born to RTH-β mothers. Conclusions: Prenatal diagnosis may play an important role in the management of RTH-β during pregnancy. Aiming for maternal fT4 levels not above 50% of the ULN in RTH-β mothers carrying WT fetuses seems to be a prudent approach that prevents the otherwise expected low birth weight and postnatal TSH suppression.
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Registered trials
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