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Defects of cholesterol and steroid metabolism
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Inborn errors of steroid metabolism
Mevalonate
pathway
HMG-CoA lyase deficiency
Hyper-IgD syndrome
Mevalonate kinase deficiency
To
cholesterol
7-Dehydrocholesterol
path:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
CHILD syndrome
Conradi–Hünermann syndrome
Lathosterolosis
Smith–Lemli–Opitz syndrome
desmosterol
path:
Desmosterolosis
Steroids
Corticosteroid
(including
CAH
)
aldosterone
:
Glucocorticoid remediable aldosteronism
cortisol
/
cortisone
:
CAH 17α-hydroxylase
CAH 11β-hydroxylase
both:
CAH 3β-dehydrogenase
CAH 21-hydroxylase
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
Sex steroid
To
androgens
17α-Hydroxylase deficiency
17,20-Lyase deficiency
Cytochrome b
5
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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