Template talk:CAH table: Difference between revisions
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Revision as of 08:36, 2 June 2016
Congenital Adrenal Hyperplasia | |||
Type | Enzyme Deficiency | Female | Male |
---|---|---|---|
classic virilizing adrenal hyperplasia | 21-hydroxylase, 11-beta-hydroxylase, or 3-beta-hydroxysteroid dehydrogenase |
ambiguous genitalia at birth - complete or partial fusion of the labioscrotal folds and a phallic urethra to clitoromegaly, partial fusion of the labioscrotal folds, or both | normal genitalia, present at age 1-4 weeks with salt wasting (classic salt-wasting adrenal hyperplasia) |
simple virilizing adrenal hyperplasia | mild 21-hydroxylase | identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation | early genital development (pubic hair and/or phallic enlargement) accelerated growth and skeletal maturation |
nonclassic adrenal hyperplasia | milder deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase |
present at puberty or adult with oligomenorrhea, hirsutism, and/or infertility | |
17-hydroxylase deficiency syndrome | 17-hydroxylase deficiency or 3-beta-hydroxysteroid dehydrogenase |
rare, phenotypically female at birth do not develop breasts or menstruate in adolescence and may have hypertension | steroidogenic acute regulatory (StAR) deficiency have ambiguous genitalia or female genitalia, at puberty may lack breast development and may have hypertension |
This is a complex steroidogenic abnormality, and the above clinical descriptions are provided only a guide. |