Congenital Adrenal Hyperplasia & Infertility

Question:

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.

Answer:

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
www.montereybayivf.com
Monterey, California, U.S.A.

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

Prolactin Level and Clomid for 30 yr. old TTC'r

Question:



Hi Dr. Ramirez,

I recently had a blood test done and it showed that my prolactin level is 41ug/L (the lab report indicates that normal should be less than 26ug/L) and macroprolactin is 54%. The month that I had this test done was very stressful and my period was about 12 days late. I am usually very regular 30-33 days. I did have a miscarriage in November 2008. My husband and I have been trying to conceive for about 2.5 years.

I just started my first round of Clomid. I am 30 years old. I was wondering if my prolactin level is something to be very concerned about and will it affect my fertility? Will the clomid regulate this? Does my prolactin level indicate hyperprolactinemia?

Thank you for taking the time out to read my question.

Answer:


Hello,


Yes, if in fact your prolactin is elevated, it will affect your fertility. It needs to be brought down to normal first. However, in order to check the Prolactin level, it should be done fasting and preferable in a non-stress situation. So, please have yourself retested, since I see that your level is not too high.

Prolactin is a very volatile hormone. It is affected by sleep, stress, time of day and meals. That is why it should always be rechecked at a fasting level. The normal level should be less than 20. It may be the only thing affecting your fertility. If the prolactin remains elevated, you should see a medical endocrinologist or reproductive endocrinologist for evaluation and treatment. Often this indicates that there is a microscopic tumor in the pituitary. Medication is sufficient to treat this tumor but a larger tumor would need to be surgically removed.

However, if when you are retested and the Prolactin level is normal, the fact that you have not gotten pregnant after two years of trying at your age would be reason for concern. You are still at your peak fertile years and should have gotten pregnant within one year. Before going to treatment such as with Clomid, you should undergo a complete infertility evaluation to find out what the problem is. The treatment is then chosen according to what needs to be treated. For example, if your tubes are blocked, Clomid won't work. If there is a male infertility factor, such as low sperm count, Clomid with intercourse won't work. See my March 2008 blog concerning "Infertility Evaluation ABC's" http://womenshealthandfertility.blogspot.com/2008/03/infertility-evaluation-abcs.html

It seems obvious to me that you are seeing a Family Practice doctor or a general Ob/Gyn. That is the reason you are going straight to Clomid, when in fact since you have regular periods it is a sign that you are ovulating. Clomid will increase the number of eggs that you ovulate, but having eggs available has not been your problem since you have regular cycles. Something else is going on. The problem with non-infertility specialists is that they jump to Clomid as if it were a miracle drug. It is not. It works great for some women who don't ovulate and don't have normal periods, which is certainly not your case.

I would recommend that you seek out a fertility specialist that is going to give you the proper evaluation and care. In answer to your last question, "hyperprolactinemia" means elevated prolactin levels in the blood. If your level is over 20, then you have it. Your single miscarriage in Nov. 2008 is not a major cause for alarm. That being said, get yourself retested and move on from there, keeping in mind what I have advised above.

I hope this helps,

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