Congenital adrenal hyperplasia due to 17-alpha-hydroxylase/17,20-lyase deficiency is an autosomal recessive disorder. An excessive production of excessive corticosterone and deoxycorticosterone results in hypokalemic alkalosis and hypertension. Aldosteron is absent. Concomitantly, disturbances of genital development and sexual maturation are observed.
|Disorders of the glucocorticoid hormone system|
|ACTH-independent macronodular adrenal hyperplasia 1|
|ACTH-independent macronodular adrenal hyperplasia 2|
|Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency|
|Disorder of the aldosterone system|
|Disordered steroidogenesis due to POR deficiency|
|Obesity, adrenal insufficiency, and red hair due to POMC deficiency|
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OMIM.ORG articleOmim 208085
OMIM.ORG articleOmim 613404
OMIM.ORG articleOmim 610550
NCBI articleNCBI 4143
Orphanet articleOrphanet ID 173216