Back to Search
Start Over
Two siblings with familial subclinical hyperthyroidism with unknown etiology
- Source :
- Medicine Science, Vol 6, Iss 1, Pp 154-6 (2017)
- Publication Year :
- 2017
- Publisher :
- ScopeMed, 2017.
-
Abstract
- Subclinical hyperthyroidism is defined as low or undetectable concentration of serum thyrotrophin (TSH) with normal free triiodothyronine (FT3) and free thyroxine (FT4) levels. 1). Familial subclinical hyperthyroidism is a rare entity. Activating mutations of the TSH receptor (TSH-R) gene cause genetic hyperthyroidism. Here we present a family with more than one affected individual. All family members were investigated for TSH-R mutation. No mutation was detected, while a A459 polymorphism was found in one of the cases and three other siblings. Despite the clinical and biochemical findings suggesting a TSH-R mutation, a reasonable cause could not be detected. Epigenetic and environmental modifiers, including iodine intake, should be considered in families with mutation negative, familial non auto-immune hyperthyroidism (FNAH). [Med-Science 2017; 6(1.000): 154-6]
- Subjects :
- endocrine system
lcsh:R5-920
medicine.medical_specialty
Pediatrics
endocrine system diseases
Subclinical Hyperthyroidism
business.industry
lcsh:R
lcsh:Medicine
Familial
Endocrinology
Internal medicine
Genetics
Etiology
Medicine
lcsh:Medicine (General)
business
Genel ve Dahili Tıp
hormones, hormone substitutes, and hormone antagonists
Subclinical infection
Subjects
Details
- ISSN :
- 21470634
- Database :
- OpenAIRE
- Journal :
- Medicine Science | International Medical Journal
- Accession number :
- edsair.doi.dedup.....bbcbae1c3653e1c5aa432abe4079d7c8