Can fetal ultrasound predict adrenal hypoplasia congenita caused by Xp21 deletion?

Abstract

Xp21 deletion is a contiguous gene deletion syndrome characterized by adrenal hypoplasia congenita (AHC). If prenatal genetic diagnosis does not determine whether a male fetus at risk is affected, it is necessary to monitor him to diagnose adrenal insufficiency in the first few days of life to avoid a salt-losing adrenal crisis. Whether AHC can be diagnosed by prenatal ultrasound is not known. Ultrasound findings of fetal adrenal glands were compared between healthy and affected siblings whose mother was a carrier of the Xp21 deletion. The couple did not want an invasive prenatal diagnosis during either pregnancy. The adrenal glands of a healthy fetus have a two-layered structure, but this structure could not be confirmed in the affected male. We believe this is an important finding that suggests that steroid supplementation may be necessary immediately after birth.