Prevention of ambiguous genitalia by prenatal treatment with dexamethasone
in pregnancies at risk for congenital adrenal hyperplasia
M. I. New
Pediatric Endocrinology, New York Presbyterian Hospital
Weill Cornell Medical Center, New York, NY 10021, USA
Abstract: Congenital adrenal hyperplasia (CAH) refers to a family
of monogenic inherited disorders of adrenal steroidogenesis most often
caused by a deficiency of the 21-hydroxylase enzyme. In the classic
forms of CAH (simple virilizing and salt-wasting), androgen excess causes
external genital ambiguity in newborn females and progressive postnatal
virilization in males and females. Prenatal treatment of CAH with dexamethasone
has been successfully utilized for over a decade. This article reports
on 595 pregnancies prenatally diagnosed using amniocentesis or chorionic
villus sampling between 1978 and 2002 at the New York Presbyterian Hospital-Weill
Medical College of Cornell University. No significant or enduring side
effects were noted in the fetuses, indicating that dexamethasone treatment
is safe. Prenatally treated newborns did not differ in weight from untreated,
unaffected newborns. Based on our experience, prenatal diagnosis and
treatment of 21-hydroxylase deficiency is effective in significantly
reducing or eliminating virilization in the newborn female. Prevention
of genital virilization in female newborns with classic CAH avoids the
risk of sex misassignment and diminishes the need for corrective surgery
and the resulting psychological impact that may extend into adulthood.
*Report from a SCOPE/IUPAC project: Implication of
Endocrine Active Substances for Human and Wildlife (J. Miyamoto and
J.Burger, editors). Other reports are published in this issue,
pp. 1617-2615.
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