Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatmen...
متن کاملNoninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.
A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administratio...
متن کاملPrenatal diagnosis and treatment of congenital adrenal hyperplasia and consequences in adults.
Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is possible using chorionic villus and amniotic fluid cells for DNA analysis of the CYP21B gene and the C4 and HLA class I and II genes. Mutations can be identified on 95% of the chromosomes using Southern blot analysis and selective amplification of the CYP21B gene by polymerase chain reaction followed ...
متن کاملPrenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Congenital adrenal hyperplasia (CAH) applies to a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of CAH is 21-hydroxylase deficiency (21-OHD), which in its severe form can cause genital ambiguity in females. Affected females experience virilization both physically and psychologically. Steroid 21-OHD can be diagnosed in utero through mol...
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ژورنال
عنوان ژورنال: Hormone Research in Paediatrics
سال: 2006
ISSN: 1663-2818,1663-2826
DOI: 10.1159/000096353