Saturday, January 7, 2012

Congenital Adrenal Hyperplasia & Infertility


Dear Dr. Ramirez,

Thank-you for reading this message, I greatly appreciate your advice.

My husband and I have been trying for a baby for just under 3 years. During the last year we have had 3 cycles of IUI and 3 cycles of IVF all of which have been unsuccessful.I have PCOS (although the lean variety with normal BMI) and my husband has an above average sperm count, no issues with motability etc etc.Recent blood tests revealed a chemical pregnancy with a level of HCG at 25(this was outwith IVF) and a very high 17-OHP level (13 x normal level). DHEAS level was normal. The tests were repeated however they have refused a follow up 17-OHP due to costs and have just tested DHEAS as my doc is now saying these levels should ALWAYS correlate.

I am worrying that I may have late onset Congenital adrenal hyperplasia (I am aware that sometimes PCOS is mistaken for this) and that the lack of treatment may be preventing pregnancy. I have asked for the ACTH test but have been told i dont need this as DHEAS levels are normal.Can you advise if it is normal to have a markedly elevated 17ohp in the absence of raised DHEAS? Could this be late onset Congenital Adrenal Hyperplasia?Your advice would be most appreciated. From K. in the U.K.


Hello K. from the U.K.,

Sorry for the delay in getting back to you. I had to do a little reviewing to answer your question.

17-OHP is a marker of adrenal function in the valuation of hirsuitism (increased hair growth in a woman). It is a good first level screening test. To be most accurate, it should measured first thing in the morning because there could be elevations from the intermittent diurnal pattern of secretion from the adrenal gland (ACTH). Levels should be less than 200 ng/dl whereas intermediate levels of 200-800 ng/dl require further testing. Levels over 800 ng/dl are diagnostic of a 21-hydroxylase deficiency, which is a form of congenital adrenal hyperplasia (CAH). In that case, the DHEAS would be normal.

The next step to diagnose this disorder would be an ACTH stimulation test, which is done by administering ACTH (Cortrosyn or Cosyntropin) intravenously in a dose of 250 mcg. Blood samples are then taken for 17-OHP at time 0 and 1 hr. The testing must be done in the morning (the levels of ACTH change with the body's natural 24-hour cycle of processes "circadian rhythms"). This test is most accurate if it is performed early in the morning. (Reference: "Clinical Endocrinology and Infertility" Leon Speroff et al).

Keep in mind that late onset COH is very rare. Both 17-OHP and DHEAS are measurements of adrenal function. In the cases of most adrenal disease leading to hirsuitism, both 17-OHP and DHEAS are elevated. Both may be elevated with hyperprolactinemia or adrenal tumor.

Good Luck,
Dr. Edward J. Ramirez, M.D., FACOG
Executive Medical Director
The Fertility and Gynecology Center
Monterey Bay IVF Program
Monterey, California, U.S.A.

Comment: Thank you so much for your response, I will pursue the ACTH stimulation test. Thanks again!


  1. Dr. Ramirez,

    I've recently been referred to Cal IVF by my OBGYN. Several months ago, my OB ordered a progesterone test for me, and accidentally ordered the 17-OHP at 7DPO. My new Dr at Cal IVF saw the result and mentioned it was high, 575. You mentioned that this test should be done early in the day; should it also be fasting? I had blood drawn around 11AM, and had already eaten and had my coffee. I'm wondering if that's why it was elevated? My new Dr is now recommending the ACTH stimulation test.

    Thank you!

    M. in California

  2. Hello M in California,

    I had to recheck my source and yes, the 17-OHP should be measured first thing in the morning (fasting not required) because it varies throughout the day. Normal levels should be less than 200. If the baseline AM testing is abnormal (>200) then an ACTH stimulation tst is done. If the test is greater than 800 then it is already diagnostic of adult onset CAH.

    If the ACTH stimulation test is abnormal, then that indicates that there is a cortisol deficiency and Cortisol must be replaced.

    Good Luck



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