TY - GEN
T1 - Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
T2 - A paradigm for prenatal diagnosis and treatment
AU - Nimkarn, Saroj
AU - New, Maria I.
PY - 2010/3
Y1 - 2010/3
N2 - 21-Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), an inherited disorder of steroidogenesis. In its severe form, CAH causes genital ambiguity in females. Molecular genetic analysis of fetal DNA obtained by amniocentesis or chorionic villus sampling is used to diagnose steroid 21-OHD deficiency in utero. Large ongoing studies show that appropriate prenatal treatment of pregnant mothers with dexamethasone is effective and safe for both the fetus and the mother. It reduces ambiguous genitalia in the female affected fetus and thus avoids unnecessary genitoplasty in the newborn female.
AB - 21-Hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH), an inherited disorder of steroidogenesis. In its severe form, CAH causes genital ambiguity in females. Molecular genetic analysis of fetal DNA obtained by amniocentesis or chorionic villus sampling is used to diagnose steroid 21-OHD deficiency in utero. Large ongoing studies show that appropriate prenatal treatment of pregnant mothers with dexamethasone is effective and safe for both the fetus and the mother. It reduces ambiguous genitalia in the female affected fetus and thus avoids unnecessary genitoplasty in the newborn female.
KW - 21-hydroxylase deficiency
KW - Congenital adrenal hyperplasia
KW - Prenatal care
KW - Prenatal diagnosis
KW - Steroid hydroxylases
UR - http://www.scopus.com/inward/record.url?scp=77950662467&partnerID=8YFLogxK
U2 - 10.1111/j.1749-6632.2009.05225.x
DO - 10.1111/j.1749-6632.2009.05225.x
M3 - Conference contribution
AN - SCOPUS:77950662467
SN - 9781573317856
T3 - Annals of the New York Academy of Sciences
SP - 5
EP - 11
BT - Skeletal Biology and Medicine
PB - Blackwell Publishing Inc.
ER -