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Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

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
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency



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OMIM.ORG article

Omim 208085 external link

OMIM.ORG article

Omim 613404 external link

OMIM.ORG article

Omim 610550 external link

NCBI article

NCBI 4143 external link

Orphanet article

Orphanet ID 173216 external link
Update: Aug. 14, 2020
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