Template talk:CAH table: Difference between revisions
From Embryology
mNo edit summary |
mNo edit summary |
||
Line 11: | Line 11: | ||
| 21-hydroxylase, 11-beta-hydroxylase,<br>or 3-beta-hydroxysteroid dehydrogenase | | 21-hydroxylase, 11-beta-hydroxylase,<br>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 | | 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 ( | | normal genitalia, present at age 1-4 weeks with salt wasting (salt-wasting adrenal hyperplasia) | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| simple virilizing adrenal hyperplasia | | simple virilizing adrenal hyperplasia | ||
Line 20: | Line 20: | ||
| nonclassic adrenal hyperplasia | | nonclassic adrenal hyperplasia | ||
| milder deficiencies of 21-hydroxylase<br>or 3-beta-hydroxysteroid dehydrogenase | | milder deficiencies of 21-hydroxylase<br>or 3-beta-hydroxysteroid dehydrogenase | ||
| present at puberty or adult with oligomenorrhea, hirsutism, and/or infertility | | present at puberty or adult with infrequent menstruation (oligomenorrhea), abnormal hair growth (hirsutism), and/or infertility | ||
|-bgcolor="F5FAFF" | |-bgcolor="F5FAFF" | ||
| 17-hydroxylase deficiency syndrome | | 17-hydroxylase deficiency syndrome |
Revision as of 08:42, 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 (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 infrequent menstruation (oligomenorrhea), abnormal hair growth (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. |