1-Women with early hirsuitism including those with early premature adrenarche.
2- Women who have family history of CAH.
3- Women with hirsuitism and hyperkalemia.
4- Women with hirsuitism of from some ethnic groups with high CAH.
5- women with sudden new onset of hirsuitism after the age of 30.
The right answer is 5, all 1-4 are right indications to test for CAH. Although hirsuitism get worse with time in CAH, women with new onset sudden hisrutism at this age should be evaluated particularly for adrenal or ovarian tumors. Not all women with hirsuitims are tested for CAH since it is a rare cause of hirsuitism, the more common are polycystic ovaries and idiopathic. Every now and then you will find a woman who will not be satisfied with the diagnosis of idiopathic hirsuitism and you may need to test her for this diagnosis.
Question 2: in testing for non-classic CAH which is not true:
1- 17-OHP (17-hydroxyprogesterone) is greater than 82 ng/dl in children with this diagnosis.
2- 17-OHP is greater than 200 ng/dl in early follicular phase of women with this diagnosis.
3- 17 OHP greater than 1000 ng/dl 1 hour after 250 micrograms ACTH stimulation test confirms the diagnosis.
4- Genetic testing is important before starting treatment with dexamethazone.
The correct answer is 4. Though genotype and phenotype usually correlate most patients are diagnosed with 17-OHP response after ACTH as above. The increase in 17-OHP in this syndrome is due to the congenital deficiency of the enzyme 21- hydroxylase that convert 17 OHP to 11-deoxycortisol. Thus 17-OHP will be elevated and cause rise in androgens. 11 deoxycortisol is normally converted in the adrenal to cortisol and patients with CAH are severely deficient in cortisol in the classic or neonatal form and non or mildly so in the classic CAH. In neonatal form 17 OHP is in the thousands of ng/dl (normal newborns <100>
Question 3 In treating non-classic CAH with glucocorticoids which is not true:
1- Dexamethazone is given in doses of 0.25 mg to 0.75 mg at bed time.
2- Most women and men with the disease will require glucocorticoids.
3- Glucocorticoids are given mainly to suppress ACTH secretion.
4- Cushing features and osteoporosis can result.
5- 17 OHP is used to monitor therapy.
The rigth answer is 2. Glucocorticoids are given mainly to suppress ACTH that would stimulate further synthesis of 17 OHP which would convert into androstendione that forms testosterone. It is given at night since the surge of ACTH occurs more overnight. Unlike the classic form where all patients need glucocorticoids as permanent replacement, in the non-classic form it is indicated only in females with anovulatory cycles that desire fertility, males with testicular mass or oligospermia desiring fertility. Women with non classic CAH with hirsuitism and acne are treated with oral contraceptives or anti-androgens. Patient with irregular periods are treated with contraceptive pills. The long term significant side effects of glucocorticoids even at mild doses preclude its use except mainly for the indications stated.
