1. CONGENITAL ADRENAL HYPERPLASIA
WILSON C. CUA MD
DPPS DPSPME

3. CAH ONE OF THE DISEASES INCLUDED IN THE PHILIPPINE NEWBORN SCREEN
21 HYDROXYLASE DEFICIENCY 90-95%
LIFE THREATENING IF NOT DIAGNOSED ON TIME

4. PRESENTATION USUALLY FEMALES - VIRILIZATION MALES - NORMAL
MAYBE SALT LOSING OR NOT

5. PRESENTATION GENITAL 21 HYDROXYLASE 11 HYDROXYLASE 3 B HYDROXYSTEROID
FEMALE - AMBIGUITY
MALE - NORMAL
11 HYDROXYLASE
SAME AS 21 HYDROXYLASE
HYPERTENSION
3 B HYDROXYSTEROID
FEMALE - VIRILIZED
MALE - UNDER VIRILIZED
17 ALPHA HYDROXYLASE/17,21 LYASE
FEMALE - NORMAL
MALE UNDER VIRILIZED

9. THE DEGREE OF AMBIGUITY THE SEVERITY OF ENZYME DEFICIENCY
PRESENTATION
THE DEGREE OF AMBIGUITY THE SEVERITY OF ENZYME DEFICIENCY

10. ADRENAL CRISIS
LOW SODIUM
HIGH POTASSIUM
LOW BLOOD SUGAR

11. TREATMENT ABC’S CORTISOL REPLACMENT HYDROCORTISONE 20 MG/M2
IN CASES OF EMERGENCIES
HYDROCORTISONE 100MG LOADING AND 50 MG EVERY 6 HRS MAINTAINANCE.

12. TREATMENT FOR MAINTAINANCE SALT SUPPLIMENT HYDROCORTISONE
9 ALPHA FLUDROCORTISONE ACETATE
PHILIPPINES – PREDNISONE
SALT SUPPLIMENT

13. MONITORING PROGESTERONE 17 OH PROGESTERONE PLASMA RININ ACTIVITY
ANDROSTENEDIONE
TESTOSTERONE

14. UNTREATED CASES PROGRESSIVE PENILE OR CLITORAL ENLARGEMENT
ADVANCE BONE AGE
TALL CHILD SHORT ADULT

15. UNDIAGNOSED FEMALES PRECOSCIOUS PUBERTY (ISO OR HETEROSEXUAL)
SIGNS OF HYPERANDROGENISM
INFERTILITY/MENSTRUAL PROBLEMS
SEVERE REFRACTORY ACNE
MALE PATTERN BOLDNESS
POLYCYSTIC OVARIAN DISEASE
PATIENT

18. TAKE HOME DO NOT LABEL THE SEX, IF YOU ARE NOT SURE
ALWAYS DO NEWBORN SCREEN
ALWAYS DO CHROMOSOMAL ANALYSIS
IN CAH STEROID IS YOUR FRIEND