What is included in the prenatal treatment of congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
  • Print
Answer

Prenatal treatment of congenital adrenal hyperplasia appears to be somewhat successful in preventing the virilization due to 21-hydroxylase deficiency in a female fetus. [28]  According to the protocol Carlson et al proposed, the mother is treated with 20 mcg/kg/d of dexamethasone divided into 3 doses as soon as the pregnancy is recognized to suppress fetal ACTH secretion and to prevent the fetal adrenal gland from overproducing adrenal androgens. [29]

Dexamethasone treatment is discontinued if chorionic villus sampling (done at 8-12 weeks' gestation) or amniocentesis (done at 18-20 weeks' gestation) indicates that the fetus is male or if genetic analysis indicates that the fetus is unaffected.

  • Because only the female fetus is at risk of disfigurement from virilization, this strategy results in unnecessary treatment in 7 of 8 fetuses. However, because virilization occurs within the first 12 weeks' gestation, the virilization of an affected female fetus will have already occurred if one waits until the sex and diagnosis of the fetus are known.

  • So far, this strategy has not resulted in an increase in fetal wastage or congenital malformations in treated pregnancies. [30]  However, it is associated with considerable maternal adverse effects during the pregnancy.

  • Long-term follow-up studies are ongoing and required to determine whether dexamethasone treatment in early pregnancy results in any long-term adverse effects. [31, 32]  This issue remains highly controversial. Therefore, it is recommended that prenatal treatment be done within the confines of clinical research. [7]


Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!