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Congenital adrenal hyperplasia due to 21‐hydroxylase deficiency
Author(s) -
Nimkarn Saroj,
New Maria I.
Publication year - 2010
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2009.05225.x
Subject(s) - congenital adrenal hyperplasia , chorionic villus sampling , amniocentesis , ambiguous genitalia , in utero , fetus , medicine , 21 hydroxylase , prenatal diagnosis , chorionic villi , sex organ , endocrinology , external genitalia , dexamethasone , pregnancy , biology , genetics , anatomy
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.