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Congenital adrenal hyperplasia

Male-pattern baldness typical of females affected with nonclassical 21-hydroxylase deficiency

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Congenital adrenal hyperplasia

Prader Score: degree of virilization of the external genitalia of females as proposed by Prader. In type I, the only abnormality is a slight enlargement of the clitoris. In type V, there is a markedly enlarged phallus with a penile urethra

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Congenital adrenal hyperplasia

Scheme of adrenal corticosteroid synthesis

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Congenital adrenal hyperplasia

Skin before and after treatment with dexamethasone for 3 months

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Congenital adrenal hyperplasia

Nomogram relating baseline to ACTH-stimulated serum concentrations of 17-hydroxyprogesterone. The scales are on log^10. A regression line for all data points is shown

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Congenital adrenal hyperplasia

Gene map of two homologs: CYP21A2 (the active gene) and CYP21A1P (the pseudogene). Noncorrespondent bases number less than 90 over a distance of 5.1 kb of DNA. Numbered are the pseudogene base changes that are frequently identified on mutant CYP21A2 genes responsible for 21OHD. Mutations associated with NC21OHD are indicated with black squares (exons 1, 7, 8, and 10)

Used with permission from New M. Extensive personal experience: prenatal diagnosis of congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab. 2001:86;5651-5657. Copyright 2001, The Endocrine Society

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