Two siblings with familial subclinical hyperthyroidism with unknown etiology
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 gen...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Society of Turaz Bilim
2017-03-01
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| Series: | Medicine Science |
| Subjects: | |
| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=239926 |
| _version_ | 1797327846290489344 |
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| author | Elif Ozsu Gul Yesiltepe Mutlu Filiz Mine Cizmecioglu Rifat Bircan Sukru Hatun |
| author_facet | Elif Ozsu Gul Yesiltepe Mutlu Filiz Mine Cizmecioglu Rifat Bircan Sukru Hatun |
| author_sort | Elif Ozsu |
| collection | DOAJ |
| description | 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] |
| first_indexed | 2024-03-08T06:44:19Z |
| format | Article |
| id | doaj.art-7005fc9414d44e7fb499281fbd3740fc |
| institution | Directory Open Access Journal |
| issn | 2147-0634 |
| language | English |
| last_indexed | 2024-03-08T06:44:19Z |
| publishDate | 2017-03-01 |
| publisher | Society of Turaz Bilim |
| record_format | Article |
| series | Medicine Science |
| spelling | doaj.art-7005fc9414d44e7fb499281fbd3740fc2024-02-03T08:19:12ZengSociety of Turaz BilimMedicine Science2147-06342017-03-0161154610.5455/medscience.2016.05.8537239926Two siblings with familial subclinical hyperthyroidism with unknown etiologyElif Ozsu0Gul Yesiltepe Mutlu1Filiz Mine Cizmecioglu2Rifat Bircan3Sukru Hatun4Samsun Obstetrics and Children Hospital, Samsun Koc University, School Of Medicine, Department of Pediatric Endocrinology Kocaeli University School of Medicine, Department of Pediatric Endocrinology Namik Kemal University College of Science , Department of Molecular Biology and Genetic Tekirdag Koc University, School of Medicine, Department of Pediatric EndocrinologySubclinical 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]http://www.ejmanager.com/fulltextpdf.php?mno=239926FamilialSubclinical HyperthyroidismGenetics |
| spellingShingle | Elif Ozsu Gul Yesiltepe Mutlu Filiz Mine Cizmecioglu Rifat Bircan Sukru Hatun Two siblings with familial subclinical hyperthyroidism with unknown etiology Medicine Science Familial Subclinical Hyperthyroidism Genetics |
| title | Two siblings with familial subclinical hyperthyroidism with unknown etiology |
| title_full | Two siblings with familial subclinical hyperthyroidism with unknown etiology |
| title_fullStr | Two siblings with familial subclinical hyperthyroidism with unknown etiology |
| title_full_unstemmed | Two siblings with familial subclinical hyperthyroidism with unknown etiology |
| title_short | Two siblings with familial subclinical hyperthyroidism with unknown etiology |
| title_sort | two siblings with familial subclinical hyperthyroidism with unknown etiology |
| topic | Familial Subclinical Hyperthyroidism Genetics |
| url | http://www.ejmanager.com/fulltextpdf.php?mno=239926 |
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