MedStar Authors catalog › Details for: Thyroid hemiagenesis: incidence, clinical significance and genetic background.
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Thyroid hemiagenesis: incidence, clinical significance and genetic background.

by Wartofsky, Leonard.
Citation: Journal of Clinical Endocrinology & Metabolism. 102(9):3124-3137, 2017 Sep 01.Journal: The Journal of clinical endocrinology and metabolism.Published: 2017ISSN: 0021-972X.Full author list: Szczepanek-Parulska E; Zybek-Kocik A; Wartofsky L; Ruchala M.UI/PMID: 28666345.Subject(s): Animals | DNA-Binding Proteins/ge [Genetics] | Female | *Genetic Background | *Genetic Predisposition to Disease/ep [Epidemiology] | Humans | Incidence | Male | Mice | Mutation | PAX8 Transcription Factor/ge [Genetics] | Prognosis | Proteasome Endopeptidase Complex/ge [Genetics] | Rare Diseases | Risk Assessment | Severity of Illness Index | Thyroid Dysgenesis/dg [Diagnostic Imaging] | Thyroid Dysgenesis/dt [Drug Therapy] | *Thyroid Dysgenesis/ep [Epidemiology] | *Thyroid Dysgenesis/pa [Pathology] | Thyroid Function Tests | Thyroid Neoplasms/ge [Genetics] | Thyroid Neoplasms/pa [Pathology] | Thyroxine/tu [Therapeutic Use] | Ultrasonography, Doppler/mt [Methods]Institution(s): MedStar Washington Hospital CenterDepartment(s): Medicine/EndocrinologyActivity type: Journal Article.Medline article type(s): Journal ArticleDigital Object Identifier: https://dx.doi.org/10.1210/jc.2017-00784 (Click here) Abbreviated citation: J Clin Endocrinol Metab. 102(9):3124-3137, 2017 Sep 01.Local Holdings: Available online through MWHC library: 1999- June 2013, Available in print through MWHC library: 1999 - 2006.Abstract: Context: Thyroid hemiagenesis (THA) constitutes a rare, congenital disorder that is characterized by an absence of one thyroid lobe. Because the pathogenesis and clinical significance of this malformation remain undefined, specific clinical recommendations are lacking, especially for asymptomatic cases.Abstract: Evidence Acquisition: The PubMed Database was searched (years 1970-2017) and the following terms were used to retrieve the results: "thyroid hemiagenesis", "thyroid hemiaplasia", "one thyroid lobe agenesis" and "one thyroid lobe aplasia". Subsequently, reference sections of the retrieved articles were searched.Abstract: Evidence Synthesis: There is a noticeable susceptibility of THA subjects to develop additional thyroid and non-thyroidal pathologies. In pathogenesis of concomitant thyroid pathologies, a chronic elevation in TSH values may play an important role. So far genetic studies failed to find a common genetic background of the anomaly and potential underlying cause was identified in minority of cases.Abstract: Conclusions: Patients with THA are prone to develop additional thyroid pathologies and theoretically might benefit from L-thyroxine treatment in order to lower the thyrotropin levels to that observed in the normal population. However, further research should be done to ascertain whether such intervention early in life would prevent development of associated thyroid conditions. At least, increased vigilance should be maintained to reveal all the concomitant disorders as soon as possible during follow-up examinations. Application of high-throughput technologies enabling a genome wide search for novel factors involved in thyroid embryogenesis, may be the next step to expand the knowledge on THA pathogenesis.

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