HomeGeneticsGeneDUOX2 gene
Back to Gene
DUOX2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DUOX2 gene

The DUOX2 gene provides instructions for making an enzyme essential for thyroid hormone production, and mutations in this gene are a known cause of congenital hypothyroidism.

Normal Function

The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. This enzyme is found in the thyroid gland, as well as in salivary glands, the digestive tract, and airways in the throat and lungs. Dual oxidase 2 helps generate a chemical called hydrogen peroxide. In the thyroid, hydrogen peroxide is required for one of the final steps in the production of thyroid hormones, which regulate growth, brain development, and metabolism.

Health Conditions Related to Genetic Changes

Congenital hypothyroidism

Researchers have identified several DUOX2 gene mutations that cause congenital hypothyroidism, a condition characterized by a reduction of thyroid hormone levels present from birth. These mutations limit the enzyme's ability to generate hydrogen peroxide, disrupting thyroid hormone synthesis. Because these cases are due to a disruption of hormone synthesis, they are classified as thyroid dyshormonogenesis.

  • Severe congenital hypothyroidism: Occurs when both copies of the DUOX2 gene have a mutation, leading to extremely low thyroid hormone levels.
  • Mild congenital hypothyroidism: Occurs when only one copy of the DUOX2 gene is mutated, leading to slightly reduced thyroid hormone levels. This form can sometimes be temporary (transient).
  • Goiter: In some cases, the thyroid gland is enlarged in an attempt to compensate for reduced thyroid hormone production.

Other Names for This Gene

  • DUOX2_HUMAN
  • flavoprotein NADPH oxidase
  • LNOX2
  • NADPH thyroid oxidase 2
  • nicotinamide adenine dinucleotide phosphate oxidase
  • NOXEF2
  • P138-TOX
  • THOX2

Frequently Asked Questions

Common symptoms include a large, soft belly (macroglossia), poor feeding, constipation, low muscle tone, delayed motor milestones, and a slow heartbeat. In severe cases, the baby may appear lethargic or have a cold intolerance. If any of these signs are present, prompt evaluation by a pediatric endocrinologist is essential.
Treatment involves daily levothyroxine replacement, starting with a dose of 10–15 µg/kg/day. The dose is adjusted based on serial TSH and free T4 levels, usually every 4–6 weeks until the child reaches a stable dose. Monitoring includes growth parameters, developmental milestones, and thyroid function tests. Adherence to medication and regular follow‑up are critical to prevent neurodevelopmental delays.
Newborn screening programs measure thyroid‑stimulating hormone (TSH) levels in a heel‑stick blood sample. Elevated TSH suggests hypothyroidism. If TSH is high, a second test measures free thyroxine (T4). When T4 is low, genetic testing of the DUOX2 gene can confirm a mutation, especially if other causes of hypothyroidism are ruled out. Genetic panels for congenital hypothyroidism often include DUOX2, DUOX1, and related genes.
In most cases, the condition is permanent because the underlying enzyme defect remains. However, some individuals with a single heterozygous mutation may experience transient hypothyroidism that improves as the thyroid matures. Even in these cases, careful monitoring is needed to determine if therapy can be tapered. Lifelong levothyroxine is usually required for those with biallelic mutations.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss