CONGENITAL ADRENAL HYPERPLASIA WILSON C. CUA MD DPPS DPSPME
CAH ONE OF THE DISEASES INCLUDED IN THE PHILIPPINE NEWBORN SCREEN 21 HYDROXYLASE DEFICIENCY 90-95% LIFE THREATENING IF NOT DIAGNOSED ON TIME
PRESENTATION USUALLY FEMALES - VIRILIZATION MALES - NORMAL MAYBE SALT LOSING OR NOT
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
THE DEGREE OF AMBIGUITY THE SEVERITY OF ENZYME DEFICIENCY PRESENTATION THE DEGREE OF AMBIGUITY THE SEVERITY OF ENZYME DEFICIENCY
ADRENAL CRISIS LOW SODIUM HIGH POTASSIUM LOW BLOOD SUGAR
TREATMENT ABC’S CORTISOL REPLACMENT HYDROCORTISONE 20 MG/M2 IN CASES OF EMERGENCIES HYDROCORTISONE 100MG LOADING AND 50 MG EVERY 6 HRS MAINTAINANCE.
TREATMENT FOR MAINTAINANCE SALT SUPPLIMENT HYDROCORTISONE 9 ALPHA FLUDROCORTISONE ACETATE PHILIPPINES – PREDNISONE SALT SUPPLIMENT
MONITORING PROGESTERONE 17 OH PROGESTERONE PLASMA RININ ACTIVITY ANDROSTENEDIONE TESTOSTERONE
UNTREATED CASES PROGRESSIVE PENILE OR CLITORAL ENLARGEMENT ADVANCE BONE AGE TALL CHILD SHORT ADULT
UNDIAGNOSED FEMALES PRECOSCIOUS PUBERTY (ISO OR HETEROSEXUAL) SIGNS OF HYPERANDROGENISM INFERTILITY/MENSTRUAL PROBLEMS SEVERE REFRACTORY ACNE MALE PATTERN BOLDNESS POLYCYSTIC OVARIAN DISEASE PATIENT
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