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MATERNAL GRAVES DISEASE AND ABNORMAL CYP2D6 GENOTYPE WITH FETAL HYPERTHYROIDISM
AACE Clinical Case Reports
|July 17, 2020
Summary
Fetal hyperthyroidism in a mother with Graves disease and a CYP2D6 polymorphism led to intrauterine fetal demise. This case suggests poor maternal CYP2D6 metabolism may reduce antithyroid drug efficacy.
Area of Science:
- Endocrinology
- Maternal-Fetal Medicine
- Pharmacogenetics
Background:
- Fetal hyperthyroidism, a rare complication of maternal Graves disease (GD), poses significant risks.
- Maternal Graves disease requires careful management during pregnancy.
Observation:
- A pregnant patient with a history of GD and a CYP2D6 polymorphism presented with fetal thyrotoxicosis.
- Despite multidisciplinary care and aggressive treatment, intrauterine fetal demise occurred.
Findings:
- This is the first reported case of fetal hyperthyroidism associated with a maternal CYP2D6 polymorphism.
- The maternal CYP2D6 poor metabolizer phenotype may impair antithyroid drug (ATD) metabolism, reducing treatment effectiveness.
Implications:
- This case highlights a potential genetic factor influencing ATD efficacy in pregnant patients with GD.
- Further research into the role of CYP2D6 polymorphisms in fetal hyperthyroidism management is warranted.
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