Approach to the Patient with Resistance to Thyroid Hormone and Pregnancy

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) β gene. Diagnosis is based on persistent elevations of serum free T4 and often T3 levels in the absence of TSH suppression, and confirmat...

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 2010-07, Vol.95 (7), p.3094-3102
Main Authors: Weiss, Roy E., Dumitrescu, Alexandra, Refetoff, Samuel
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
CME
Endocrinopathies
Feeding. Feeding behavior
Female
Fundamental and applied biological sciences. Psychology
Humans
Medical sciences
Mutation
Pregnancy
Prenatal Diagnosis
Thyroid Hormone Receptors beta - genetics
Thyroid Hormone Resistance Syndrome - blood
Thyroid Hormone Resistance Syndrome - genetics
Thyroid Hormone Resistance Syndrome - therapy
Thyroxine - blood
Triiodothyronine - blood
Vertebrates: anatomy and physiology, studies on body, several organs or systems
Vertebrates: endocrinology
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Summary: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) β gene. Diagnosis is based on persistent elevations of serum free T4 and often T3 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 TRβ 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. The pregnant patient with resistance to thyroid hormone requires the consideration of prenatal diagnosis; on the basis of these findings additional modifications of RTH treatment are warranted.
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.2010-0409