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- Scopus: eid_2-s2.0-17444416693
- PMID: 15815068
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Article: Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene
Title | Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene |
---|---|
Authors | |
Keywords | Chinese Thyroid hormone receptors beta Thyroid hormone resistance syndrome |
Issue Date | 2005 |
Publisher | Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html |
Citation | Hong Kong Medical Journal, 2005, v. 11 n. 2, p. 125-129 How to Cite? |
Abstract | The combination of elevated serum levels of free thyroid hormones with non-suppressed thyroid-stimulating hormone suggests the differential diagnoses of resistance to thyroid hormone or thyroid-stimulating hormone-secreting pituitary tumour. Clinical differentiation of these two conditions can be difficult, because patients with thyroid hormone resistance may exhibit various combinations of hypermetabolic and hypometabolic features, and laboratory results have limited sensitivity and specificity. We report a case of resistance to thyroid hormone in a Chinese family that illustrates this difficulty. The diagnosis could only be confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor beta gene in peripheral leukocytes. Availability of genetic tests will identify more cases in the future and improve our understanding of this condition. |
Persistent Identifier | http://hdl.handle.net/10722/148403 |
ISSN | 2023 Impact Factor: 3.1 2023 SCImago Journal Rankings: 0.261 |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Kong, APS | en_US |
dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Chan, AOK | en_US |
dc.contributor.author | Yiu, SF | en_US |
dc.contributor.author | Tiu, SC | en_US |
dc.date.accessioned | 2012-05-29T06:12:45Z | - |
dc.date.available | 2012-05-29T06:12:45Z | - |
dc.date.issued | 2005 | en_US |
dc.identifier.citation | Hong Kong Medical Journal, 2005, v. 11 n. 2, p. 125-129 | en_US |
dc.identifier.issn | 1024-2708 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/148403 | - |
dc.description.abstract | The combination of elevated serum levels of free thyroid hormones with non-suppressed thyroid-stimulating hormone suggests the differential diagnoses of resistance to thyroid hormone or thyroid-stimulating hormone-secreting pituitary tumour. Clinical differentiation of these two conditions can be difficult, because patients with thyroid hormone resistance may exhibit various combinations of hypermetabolic and hypometabolic features, and laboratory results have limited sensitivity and specificity. We report a case of resistance to thyroid hormone in a Chinese family that illustrates this difficulty. The diagnosis could only be confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor beta gene in peripheral leukocytes. Availability of genetic tests will identify more cases in the future and improve our understanding of this condition. | en_US |
dc.language | eng | en_US |
dc.publisher | Hong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html | en_US |
dc.relation.ispartof | Hong Kong Medical Journal | en_US |
dc.subject | Chinese | - |
dc.subject | Thyroid hormone receptors beta | - |
dc.subject | Thyroid hormone resistance syndrome | - |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Mutation | en_US |
dc.subject.mesh | Receptors, Thyroid Hormone - Genetics | en_US |
dc.subject.mesh | Thyroid Hormone Receptors Beta | en_US |
dc.subject.mesh | Thyroid Hormone Resistance Syndrome - Drug Therapy - Genetics | en_US |
dc.subject.mesh | Triiodothyronine - Analogs & Derivatives - Therapeutic Use | en_US |
dc.title | Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.pmid | 15815068 | - |
dc.identifier.scopus | eid_2-s2.0-17444416693 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-17444416693&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 11 | en_US |
dc.identifier.issue | 2 | en_US |
dc.identifier.spage | 125 | en_US |
dc.identifier.epage | 129 | en_US |
dc.publisher.place | Hong Kong | en_US |
dc.identifier.issnl | 1024-2708 | - |