Document Detail


Approach to the patient with resistance to thyroid hormone and pregnancy.
MedLine Citation:
PMID:  20610605     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Resistance to thyroid hormone (RTH), a syndrome of reduced end-organ responsiveness to thyroid hormone (TH), is mostly caused by mutations in the TH receptor (TR) beta gene. Diagnosis is based on persistent elevations of serum free T(4) and often T(3) levels in the absence of TSH suppression, and confirmation in most cases is by way of genetic testing. The mainstay in the management of RTH patients who are asymptomatic is to recognize the correct diagnosis and avoid antithyroid treatment. Deciding whether to manage these patients with TH replacement is made even more challenging when an affected individual is pregnant. How one approaches such a patient with pregnancy and RTH would depend on the genotype of the fetus. This requires obtaining prenatal information on the genotype of the fetus and a thorough history of the outcome of previous pregnancies as well as a history of the course and outcome of other family members with RTH. If the TRbeta mutation is known in the mother, the fetus can be rapidly genotyped from DNA from amniocentesis for the same mutation, and then management decisions could be made regarding thyroid or antithyroid hormone treatment.
Authors:
Roy E Weiss; Alexandra Dumitrescu; Samuel Refetoff
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  95     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2010 Jul 
Date Detail:
Created Date:  2010-07-08     Completed Date:  2010-07-26     Revised Date:  2013-03-28    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3094-102     Citation Subset:  AIM; IM    
Affiliation:
Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, Department of Medicine, The University of Chicago, 5841 South Maryland Avenue, MC 3090, Chicago, IL 606037, USA. rweiss@medicine.bsd.uchicago.edu
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Female
Humans
Mutation
Pregnancy
Prenatal Diagnosis*
Thyroid Hormone Receptors beta / genetics*
Thyroid Hormone Resistance Syndrome / blood,  genetics,  therapy*
Thyroxine / blood
Triiodothyronine / blood
Grant Support
ID/Acronym/Agency:
DK07011/DK/NIDDK NIH HHS; DK17050/DK/NIDDK NIH HHS; DK20595/DK/NIDDK NIH HHS; RR04999/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Thyroid Hormone Receptors beta; 6893-02-3/Triiodothyronine; 7488-70-2/Thyroxine
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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