Purpose: The relevant aspects of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH-21), the single most common cause of female pseudohermaphroditism, are reviewed to understand the benefits and risks of prenatal intervention. Timely diagnosis is important, since infants with this condition may suffer adrenal insufficiency which carries a high mortality rate.
Materials and methods: Infants suspected of having CAH-21 should undergo radioimmunoassay of serum 17-hydroxyprogesterone, karyotype and pelvic/abdominal ultrasound at a minimum. Treatment with glucocorticoid and mineralocorticoid supplements should be instituted immediately. Surgical correction of genitourinary tract anomalies should be performed by a pediatric urologist experienced in this area.
Results: Proper postnatal medical and surgical management of CAH-21 will allow the patient to thrive. Many women with classic CAH-21 have now conceived and delivered healthy children. Prenatal diagnosis, now most often done by molecular genetic techniques, is feasible and often done in conjunction with prenatal treatment of the at risk mother.
Conclusions: CAH-21 has been well characterized. The benefit of prenatal therapy is to ameliorate potentially genital ambiguity in affected female subjects. The risks of unnecessarily treating unaffected pregnancies, which now seem small, may not be fully elucidated for many years. Prenatal treatment must be done under careful, centralized and ideally long-term medical supervision.