Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones. [1] [2] It is due to either deficiency of thyroid enzymes, inability to concentrate, or ineffective binding.

A definite molecular diagnosis of thyroid dyshormonogenesis allows genetic counselling, and has prognostic value in differentiating transient from permanent CH and predicting the response of patients to iodine supplementation as adjunct or alternative treatment to L-T 4 replacement.

Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

Thyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism. Over time, forms of thyroid dyshormonogenesis can result in goiter, which can lead to difficult management decisions as the pathologic changes can both mimic or lead to thyroid cancer.

In this cohort, genetic factors causing thyroid dyshormonogenesis were the main etiologies of CH development. Most patients exhibited a favorable prognosis; however, systematic management remains a challenge in achieving improved clinical outcomes for CH patients.

Clinical resource with information about Thyroid dyshormonogenesis 6 and its clinical features, DUOX2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, …

Thyroid dyshormonogenesis results from mutations in one of several genes involved in the production of thyroid hormones. These genes include DUOX2, SLC5A5 TG, and TPO. Mutations in each of these genes disrupt a step in thyroid hormone synthesis, leading to abnormally low levels of these hormones.

2018年1月12日 · Defects in thyroid hormone synthesis (dyshormonogenesis) In about 15% of cases, CH is due to hormonogenesis defects caused by mutations in genes involved in thyroid hormone synthesis, secretion or recycling.

Dyshormonogenesis can be caused by recessive defects at any of the steps required for normal thyroid hormone synthesis. In untreated patients thyroid dyshormonogenesis is typically associated with goitrous enlargement of the thyroid secondary to long-term thyrotropin (TSH; see 188540) stimulation.

Summary: Congenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis pathway. An exact molecular diagnosis allows genetic counseling and the identification of asymptomatic mutation carriers at risk of recurrent hypothyroidism ...