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46,XY DSD: Algemeen

Bijlage 3

20

Schematisch overzicht van de cholesterolsynthese in de bijnierschors

Cholesterol

Cholesterol desmolase

CYP11A

17

α

-Hydroxylase/ 17,20-Lyase

(CYP17)

3

β

-Hydroxysteroïd

Dehydrogenase

21-Hydroxylase

(CYP21)

11

β-

Hydroxylase

(CYP11B2)

18-Hydroxylase

(CYP11B2)

18-Oxidase

(CYP11B2)

Pregnenolon

Progesteron

Deoxycorticosteron

Corticosteron

18-OH corticosteron

Aldosteron

Dehydroepiandrosteron

Androsteendion

17-OH progesteron

Testesteron

11-Deoxycortisol

Dihydrotestosteron

Cortisol

17-OH pregnenolon

17

β

-HSD-3

11

β

-Hydroxylase

(CYP11B1)

5

α-

RD-2