Congenital hypothyroidism due to maternal intake of antithyroid drugs

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Overview

Congenital hypothyroidism due to maternal intake of antithyroid drugs is a condition in which a newborn has reduced thyroid hormone levels caused by the mother's use of antithyroid medications (such as methimazole, carbimazole, or propylthiouracil) during pregnancy. These medications, typically prescribed to treat maternal hyperthyroidism (including Graves' disease), cross the placenta and can suppress the fetal thyroid gland's ability to produce thyroid hormones. This results in a transient form of congenital hypothyroidism in the newborn. The thyroid gland plays a critical role in regulating metabolism, growth, and brain development, particularly during fetal and early neonatal life. Affected newborns may present with a goiter (enlarged thyroid gland), lethargy, poor feeding, prolonged jaundice, constipation, hypothermia, and a hoarse cry. In some cases, the condition may be detected through newborn screening programs that measure thyroid-stimulating hormone (TSH) levels, which are elevated, and low levels of free thyroxine (T4). This condition is generally transient and resolves once the antithyroid drug is cleared from the infant's system, typically within days to weeks after birth. However, prompt recognition and management are essential to prevent potential neurodevelopmental complications. Treatment may include temporary thyroid hormone replacement therapy (levothyroxine) in symptomatic or severely affected neonates until thyroid function normalizes. Close monitoring of thyroid function tests is recommended during the neonatal period and early infancy to guide treatment duration and ensure full recovery.

Clinical phenotype terms— hover any for plain English:

Congenital hypothyroidismHP:0000851Elevated circulating thyroid-stimulating hormone concentrationHP:0002925Decreased circulating T4 concentrationHP:0031507Mottled pigmentationHP:0001070Protuberant abdomenHP:0001538HypothermiaHP:0002045Delayed epiphyseal ossificationHP:0002663Absent ossification of capital femoral epiphysisHP:0008820
Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital hypothyroidism due to maternal intake of antithyroid drugs.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

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Common questions about Congenital hypothyroidism due to maternal intake of antithyroid drugs

What is Congenital hypothyroidism due to maternal intake of antithyroid drugs?

Congenital hypothyroidism due to maternal intake of antithyroid drugs is a condition in which a newborn has reduced thyroid hormone levels caused by the mother's use of antithyroid medications (such as methimazole, carbimazole, or propylthiouracil) during pregnancy. These medications, typically prescribed to treat maternal hyperthyroidism (including Graves' disease), cross the placenta and can suppress the fetal thyroid gland's ability to produce thyroid hormones. This results in a transient form of congenital hypothyroidism in the newborn. The thyroid gland plays a critical role in regulatin

At what age does Congenital hypothyroidism due to maternal intake of antithyroid drugs typically begin?

Typical onset of Congenital hypothyroidism due to maternal intake of antithyroid drugs is neonatal. Age of onset can vary across affected individuals.