Template:CAH table collapse: Difference between revisions

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{| class="wikitable mw-collapsible mw-collapsed"
{| class="wikitable mw-collapsible mw-collapsed"
! colspan=4|Congenital Adrenal Hyperplasia
! colspan=4|Congenital Adrenal Hyperplasia  
|-bgcolor="CEDFF2"
|-bgcolor="CEDFF2"
! width=180px|Type
! width=180px|Type
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| classic virilizing adrenal hyperplasia
| classic virilizing adrenal hyperplasia
| 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 clitoral enlargement (clitoromegaly), partial fusion of the labioscrotal folds, or both
| normal genitalia, present at age 1-4 weeks with salt wasting (salt-wasting adrenal hyperplasia)
| 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
| mild 21-hydroxylase  
| mild 21-hydroxylase  
| identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation  
| identified later in childhood because of precocious pubic hair, clitoral enlargement (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
| early genital development (pubic hair and/or phallic enlargement) accelerated growth and skeletal maturation
|-
|-
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| 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 infrequent menstruation (oligomenorrhea), abnormal hair growth (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

Latest revision as of 11:47, 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 clitoral enlargement (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, clitoral enlargement (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 table of clinical descriptions are provided only a guide.
Links: Genital Abnormalities | Adrenal Development | Genes and Disease | OMIM 21 Deficiency | OMIM 17 Deficiency | OMIM 3 Deficiency