Introductory and conceptual presentation on congenital adrenal hyperplasia.

2. Presenter:
SANA MATEEN MUNSHI

7. STEROIDOGENESIS
CHOLESTEROL
PREGNENOLONE
PROGESTERONE
DEOXYCORTICOSTTERONE
CORTICOSTERONE
ALDOSTERONE
17- HYDRO
PREGNENOLONE
17- HYDRO
PROGESTERONE
11-
DEOXYCORTISOL
CORTISOL
DEHYDRO
PLANDRO
STERONE
ANDROSTEN
EDIONE
TESTOSTERONE

9. “A group of autosomal
recessively inherited disorders
associated with a deficiency of
one of the enzymes involved in
cortisol biosynthesis, resulting in
elevation of ACTH levels and
overproduction and
accumulation of cortisol
precursors.”

10. ENZYMES
GENES
INVOLVED
 17 alpha hydroxylase
 21 alpha hydroxylase
 11 beta hydroxlase
 18 oxidase
CYP17A
 CYP21A
 CYP11B1
CYP11B2

11. CHOLESTEROL
PREGNENOLONE
PROGESTERONE
17- HYDRO
PREGNENOLONE
DEHYDRO
PLANDRO
STERONE
17- HYDRO
PROGESTERONE
ANDROSTE
NEDIONE
TESTOSTERONE

14. SALT LOSING/
CLASSICAL CAH
SIMPLE
VIRILISING/ NON
SALT LOSING CAH
NON CLASSICAL/
LATE CAH

15. • Hyponatremia
•Hyperkalemia
•Hypoglycemia
•Hypotenion
•Hypertension
•Hyperpigmentation

17. D
I
A
G
N
O
S
I
S
investigation
Imaging studies
 CT scanning
 Pelvic ultrasonograpy
 Urogenitography
 Examination of
genitals
 Urinary tests
 Blood tests
 Harmonal tests
Other tests
 Karyotype
 Genetic testing

19. • Diet
• Medication
• Surgery
REFER for further details:
http://emedicine.medscape.com/article/919218-overview

20. THANK YOU!!