Hydoxylase Deficiency and Anti-Androgen Use?


Question

-I have a 6 y old boy with 11 hydroxylase deficiency growing steady on the 90th percentile with no growth acceleration though with unfortunate bone advancement to 13 y.

His physical exam has been stable with regards to his tanner stage ( pubic hair III) has not changed over the last one year with his penile length of 6 cm. His testis though is at 3 ml bilaterally with no palpable masses to suggest adrenal rests.

He is maintained on hydrocortisone almost 14 mg / day and his 17OHP is in 248 range ng/dl but his androstenidione is significantly elevated at 600 ng/dl. I am admitting him to ensure that he has no central puberty neither adrenal rest and my question is in the absence of the above; is there a good indication of using anti androgen to slow down his bone age to improve his height potential. If so which one and what is the recommended dosing please. Suzan Mushcab, MD suzan.mushcab@aramco.com

Response

-There are no reported levels of 11 desoxyhormones such as DOC or compound S, which would be diagnostic of 11-hydroxylase deficiency. In addition, we measure renin and aldosterone in every patient with 11 hydroxylase deficiency as a suppressed renin indicates poor control. We would never treat patients with Florinef who have this form of CAH. Indeed I don’t see any evidence that this patient has 11 hydroxylase deficiency as there is neither hormonal nor genetic evidence for it. We sequence every patient to determine the genetic mutation. He also has not been tested for 21-hydroxylase deficiency, which is more frequent that 11 hydroxylase deficiency, by DNA analysis. His advanced bone age and pubertal stage are very disturbing, indicating he will have final height that is below his target height (calculated from his parental heights). As the predicted height is probably significantly below his target, he is probably a candidate for growth hormone treatment and LHRH analogue to delay his puberty (if he is in fact in central puberty). If he is indeed in central puberty, he may also be a candidate for an aromatase inhibitor to delay bone age maturation.

Until you know whether his androgens are suppressible with Dexamethasone, I would not treat with an anti-androgen. Maria New, MD