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Article: Resistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene

TitleResistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta gene
Authors
Issue Date2005
PublisherHong 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?
AbstractThe 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 Identifierhttp://hdl.handle.net/10722/148403
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorKong, APSen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AOKen_US
dc.contributor.authorYiu, SFen_US
dc.contributor.authorTiu, SCen_US
dc.date.accessioned2012-05-29T06:12:45Z-
dc.date.available2012-05-29T06:12:45Z-
dc.date.issued2005en_US
dc.identifier.citationHong Kong Medical Journal, 2005, v. 11 n. 2, p. 125-129en_US
dc.identifier.issn1024-2708en_US
dc.identifier.urihttp://hdl.handle.net/10722/148403-
dc.description.abstractThe 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.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_US
dc.relation.ispartofHong Kong Medical Journalen_US
dc.subject.meshAdulten_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshReceptors, Thyroid Hormone - Geneticsen_US
dc.subject.meshThyroid Hormone Receptors Betaen_US
dc.subject.meshThyroid Hormone Resistance Syndrome - Drug Therapy - Geneticsen_US
dc.subject.meshTriiodothyronine - Analogs & Derivatives - Therapeutic Useen_US
dc.titleResistance to thyroid hormone in a Chinese family with R429Q mutation in the thyroid hormone receptor beta geneen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid15815068-
dc.identifier.scopuseid_2-s2.0-17444416693en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-17444416693&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume11en_US
dc.identifier.issue2en_US
dc.identifier.spage125en_US
dc.identifier.epage129en_US
dc.publisher.placeHong Kongen_US

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