Thyroid dyshormonogenesis | |
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Other names | Dyshormogenetic goiter |
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Thyroid dyshormonogenesis is inherited in an autosomal recessive manner | |
Specialty | Endocrinology ![]() |
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. [3]
The symtptoms of this disease are: [4]
Very Frequent
Frequent
Occasional
Very Rare
This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes [3]
One particular familial form is associated with sensorineural deafness (Pendred's syndrome). [5]
OMIM includes the following:
Type | OMIM | Gene |
---|---|---|
Type 1 | 274400 | SLC5A5 |
Type 2A | 274500 | TPO |
Type 2B | 274600 (Pendred) | SLC26A4 |
Type 3 | 274700 | TG |
Type 4 | 274800 | IYD |
Type 5 | 274900 | DUOXA2 |
Type 6 | 607200 | DUOX2 |
Diagnosis can be made by elevated serum TSH level and low T4 or free T4 level. Thyroid dyshormonogenesis diagnosis is based on high radioactive iodine (RAI) uptake of the thyroid gland followed by more than 90% release after sodium perchlorate administration. Thyroid dyshormonogenesis is diagnosed with a 50%-90% release after perchlorate administration, which can be confirmed by genetic testing. [6]
Levothyroxine is the treatment of choice (starting dose 10-15 mcg/kg/day), with the immediate goal of raising the serum T4 level above 130 nmol/L (10 ug/dL) as quickly as possible; with these doses, serum TSH usually normalizes within 2–4 weeks. Frequent laboratory monitoring in infancy is essential to make sure of optimal neurocognitive outcome. Serum TSH and T4 should be measured every 1–2 months in the first 6 months of life, every 3 months between 6 months and 3 years of age, and 4 weeks after any dose change. [6]