Congenital Adrenal Hyperplasia

Congenital Adrenal
hyperplasia
Types of Steroids?
1.Mineralocorticoid
2.Glucocorticoid
3.Adrenal Androgen
Steroid synthesis
Cholesterol
17 hydroxy
Pregnenolone DHEA Estradione
Pregnenolone
17 hydroxy
Progesterone Androstenedione Estradiol
Progesterone
11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone
Corticosterone Cortisol
Aldosterone Cortisone
3
Cholesterol
3
Cholesterol
3
Cholesterol
1
3
Cholesterol
1
3
Cholesterol
11
1
3
Cholesterol
17
11
1
3
Cholesterol
18
17
11
1
3
Cholesterol
21
18
17
11
1
3
Cholesterol
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21

11
17
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21

11
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Cholesterol
21
18
17
11
1
3
Side chain cleave enzyme

21
18
17
11
1
3
Side chain cleave enzyme

21
18
17
11
1
3
Pregnenolone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Pregnenolone
21
18
17
11
1
3
3β hydroxylase
21
18
17
11
1
3
Progesterone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Progesterone
21
18
17
11
1
3
21 α hydroxylase
21
18
17
11
1
3
Deoxy corticosterone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Deoxy corticosterone
21
18
17
11
1
3
11β hydroxylase
21
18
17
11
1
3
Corticosterone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Corticosterone
21
18
17
11
1
3
Aldosterone synthetase
21
18
CHO
17
11
1
3
Aldosterone synthetase
21
18
CHO
17
11
1
3
Aldosterone
Regulation of mineralocorticoid synthesis?
Effects of Mineralocorticoids?
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Cholesterol
21
18
17
11
1
3
Side chain cleave enzyme CYP11A1

21
18
17
11
1
3

21
18
17
11
1
3
Pregnenolone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Pregnenolone
21
18
17
11
1
3
17 α hydroxylase
21
18
17
11
1
3
17 hydroxy pregnenolone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
21
18
17
11
1
3
3 β hydroxylase
21
18
17
11
1
3
17 hydroxy progesterone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
17 hydroxy progesterone
21
18
17
11
1
3
21α hydroxylase
21
18
17
11
1
3
11 Deoxy cortisol
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
11 Deoxy cortisol
21
18
17
11
1
3
11β hydroxylase
21
18
17
11
1
3
Cortisol
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Cortisol
21
18
17
11
1
3
11 β hydroxy dehydrogenase
21
18
17
11
1
3
Cortisone
Regulation of glucocorticoid synthesis?
Effects of glucocorticoids?
21
18
17
11
1
3
Cholesterol
21
18
17
11
1
3

21
18
17
11
1
3

21
18
17
11
1
3
Pregnenolone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
Pregnenolone
21
18
17
11
1
3
17 α hydroxylase
21
18
17
11
1
3
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
21
18
17
11
1
3
18
17
11
1
3
17α hydroxylase
18
17
11
1
3
Dehydro epiandrosterone (DHEA)

Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
18
17
11
1
3
Dehydro epiandrosterone (DHEA)

18
17
11
1
3
3β hydroxylase
18
17
11
1
3
Androstenedione
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
18
17
11
1
3
Androstenedione
18
17
11
1
3
17β hydrogenase
18
17
11
1
3
Testosterone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
18
17
11
1
3
Testosterone
18
17
11
1
3
5 α reductase
18
17
11
1
3
5 Dihydrotestosterone
Cholesterol
17 hydroxy
Pregnenolone
17 hydroxy
Progesterone
Pathophysiology of CAH
17
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21

11
17
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21

11
17
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21

11
17
Cholesterol
Side chain
cleave
17 hydroxy
Pregnenolone
3
17 hydroxy
Progesterone
21 5

11
Types of CAH
1.Classical
2.Simple virilizing
3.Non classical
Clinical features
Classical CAH
● Major loss of function resulting in absence of

glucocorticoid and mineralocorticoid action
● Presents in neonates
● Severe virilizing (girls) and salt wasting(boys) in neonates
Simple virilizing CAH
● Less severe mutation that affects glucocorticoid function

● Presents in early childhood and adolescence
● Virilization in girls and precocious pseudo puberty in boys
Non classical CAH
● Milder mutation could preserve both glucocorticoid and

mineralocorticoid function
● Presents in adolescence and adulthood
● Oligomenorrhea, hirsutism & infertility resembling PCOS
● Men are asymptomatic
Treatment
● Hydrocortisone is a good treatment option for the
prevention of adrenal crisis. Given in divided doses at 1–
1.5 times the normal cortisol production rate (~10–13
mg/m2 per day)
● If hydrocortisone does not suffice, intermediate-acting
glucocorticoids (e.g., prednisone) may be given, using the
lowest dose necessary to suppress excess androgen
production
● For achieving fertility, dexamethasone treatment may be
required but should only be given for the shortest possible
time period to limit adverse metabolic side effects
● Biochemical monitoring should include androstenedione
and testosterone, aiming for the normal sex-specific
reference range

Congenital Adrenal Hyperplasia

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Congenital Adrenal Hyperplasia

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Congenital Adrenal

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

Side chain cleave enzyme

Side chain cleave enzyme

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

Side chain cleave enzyme CYP11A1

Side chain cleave enzyme CYP11A1

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

Side chain cleave enzyme CYP11A1

Side chain cleave enzyme CYP11A1

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

Dehydro epiandrosterone (DHEA)

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

Dehydro epiandrosterone (DHEA)

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

11 Deoxy corticosterone 11 Deoxycortisol Testosterone Dihydrotestosterone

● Major loss of function resulting in absence of

● Less severe mutation that affects glucocorticoid function

● Milder mutation could preserve both glucocorticoid and

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