Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Without Demonstrable Genetic Mutations
نویسندگان
چکیده
منابع مشابه
[Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency].
Congenital adrenal hyperplasia is a general term applied to a group of several inherited enzymatic defects of cortisol biosynthesis. The most frequent cause of this disease is by far 21-hydroxylase deficiency which is considered one of the commonest metabolic disorders. The degree to which the activity of this enzyme is diminished correlates with the severity of congenital adrenal hyperplasia a...
متن کاملAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Alternative Names Adrenal Hyperplasia III 21-@Hydroxylase Deficiency CYP21 Deficiency Congenital Adrenal Hyperplasia 1 CAH1 Cytochrome P450, Subfamily XXIA, Polypeptide 2 CYP21A2 Cytochrome P450, Subfamily XXI CYP21 Steroid Cytochrome P450 21-Hydroxylase P450c21 21-@Hydroxylase B, Included CYP21B CA21H Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene CYP21A1P CYP21P CYP21A Hyperandroge...
متن کاملTreatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
The use of glucocorticoids to treat individuals with congenital adrenal hyperplasia (CAH) was first reported by both Wilkins and Bartter in 1950. Since that time, the care of these patients has improved dramatically, and through the efforts of dedicated medical researchers, it continues to improve today. With early detection by newborn screening, initiation of treatment in infants with salt-was...
متن کاملA Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The p...
متن کاملRapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency.
BACKGROUND Neonatal screening for steroid 21-hydroxylase (CYP21) deficiency is performed to identify congenital adrenal hyperplasia (CAH). The immunologic assay for 17alpha-hydroxyprogesterone (17-OHP) has a high rate of false positives. We assessed the potential for increasing the specificity for CAH by use of a second step involving analysis of the CYP21 gene. METHODS Between January 1999 a...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1999
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.84.1.5554