Template:CAH table: Difference between revisions
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| colspan=4|This is a complex steroidogenic abnormality, and the above table of clinical descriptions are provided only a guide. | | colspan=4|This is a complex steroidogenic abnormality, and the above table of clinical descriptions are provided only a guide. | ||
:'''Links:''' [[Genital_System_-_Abnormalities#Congenital_Adrenal_Hyperplasia|Genital Abnormalities]] | [[Endocrine - Adrenal Development|Adrenal Development]] | [http://www.ncbi.nlm.nih.gov/books/NBK22173/ Genes and Disease] | [http://omim.org/entry/201910 OMIM 21 | :'''Links:''' [[Genital_System_-_Abnormalities#Congenital_Adrenal_Hyperplasia|Genital Abnormalities]] | [[Endocrine - Adrenal Development|Adrenal Development]] | [http://www.ncbi.nlm.nih.gov/books/NBK22173/ Genes and Disease] | [http://omim.org/entry/201910 OMIM 21 Deficiency] | [http://omim.org/entry/202110 OMIM 17 Deficiency] | [http://omim.org/entry/201810 OMIM 3 Deficiency] | ||
|}<noinclude>[[Category:Template]][[Category:Adrenal]][[Category:Endocrine]][[Category:Abnormal Development]]</noinclude> | |}<noinclude>[[Category:Template]][[Category:Adrenal]][[Category:Endocrine]][[Category:Abnormal Development]]</noinclude> |
Latest revision as of 10:39, 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 (classic 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. |