Template:Defects of cholesterol and steroid metabolism

From WikiMD's medical encyclopedia

Inborn errors of steroid metabolism

Mevalonate
pathway

* HMG-CoA lyase deficiency

* 7-Dehydrocholesterol path: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

desmosterol path: Desmosterolosis

Corticosteroid
(including CAH)

* aldosterone: Glucocorticoid remediable aldosteronism

To androgens	* 17α-Hydroxylase deficiency 17,20-Lyase deficiency Cytochrome b₅ deficiency 3β-Hydroxysteroid dehydrogenase deficiency 17β-Hydroxysteroid dehydrogenase deficiency 5α-reductase 2 deficiency Pseudovaginal perineoscrotal hypospadias
To estrogens	* Aromatase deficiency Aromatase excess syndrome

Other

* X-linked ichthyosis

Antley–Bixler syndrome

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