Prenatal Diagnosis and Fetal Therapy for 21-hydroxylase Deficiency ; A Case Discontinued Steroid Administration

A woman who has a boy affected with 21-OH-D was given dexamethasone orally from 7 weeks of gestation (G7w). Genetic analyses revealed her fetus was unaffected and the steroid administration was discontinued at G14w. At G38w, the baby was born with normal female genitalia. Although prenatal treatment of 21-OH-D with dexamethasone has been utilized and has thought to be safe for both mother and fetus, some unfavorable effects might exist. For optimal prenatal diagnosis and treatment, an algorithm with case recording and follow-up system should be developed, in addition to the informed choice made by the parents at risk. Also, intimate communication among pediatricians, perinatologists, obstetricians, clinical geneticists and genetic laboratories is necessary.