Thyroid dyshormonogenesis

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Thyroid dyshormonogenesis
Other namesDyshormogenetic goiter
Autosomal recessive - en.svg
Thyroid dyshormonogenesis is inherited in an autosomal recessive manner
Specialty Endocrinology   OOjs UI icon edit-ltr-progressive.svg

Thyroid dyshormonogenesis is a rare condition due to genetic defects in the synthesis of thyroid hormones. [1] [2]

Contents

It is due to either deficiency of thyroid enzymes, inability to concentrate, or ineffective binding. [3]

Signs and symptoms

The symtptoms of this disease are: [4]

Very Frequent

Frequent

Occasional

Very Rare

Cause

This is due to inability to produce thyroid hormones due to congenital absence of peroxidase or dehalogenase enzymes [3]

Types

One particular familial form is associated with sensorineural deafness (Pendred's syndrome). [5]

OMIM includes the following:

TypeOMIMGene
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

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]

Treatment

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]

References

  1. Avbelj M, Tahirovic H, Debeljak M, et al. (May 2007). "High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis" . Eur. J. Endocrinol. 156 (5): 511–9. doi: 10.1530/EJE-07-0037 . PMID   17468186.
  2. Kumar PG, Anand SS, Sood V, Kotwal N (December 2005). "Thyroid dyshormonogenesis" (PDF). Indian Pediatr. 42 (12): 1233–5. PMID   16424561.
  3. 1 2 Grasberger, Helmut; Refetoff, Samuel (August 2011). "Genetic causes of congenital hypothyroidism due to dyshormonogenesis". Current Opinion in Pediatrics. 23 (4): 421. doi:10.1097/MOP.0b013e32834726a4. ISSN   1040-8703. PMC   3263319 .
  4. "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-02-26.
  5. Sheffield, Val C.; Kraiem, Zaki; Beck, John C.; Nishimura, Darryl; Stone, Edwin M.; Salameh, Muhamad; Sadeh, Orit; Glaser, Benjamin (April 1996). "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification" . Nature Genetics. 12 (4): 424–426. doi:10.1038/ng0496-424. ISSN   1546-1718.
  6. 1 2 "Orphanet: Familial thyroid dyshormonogenesis". www.orpha.net. Retrieved 2025-02-26.