Q: My daughter, who is 3 months old, suffers from CAH due to 21-hydroxylase deficiency. We check her sodium and potassium once a week but I think this is harmful for her. Are there any methods to check her electrolyte serum at home more simply than going to a lab?

A: It is usually necessary to check sodium and potassium frequently in the first month or so of life, until the levels have stabilized and the treatment doses do not need adjustment. Once you get the levels stabilized, though, there isn’t usually a need for such frequent checks. Usually every 3 months (along with adrenal hormones and plasma renin activity) is adequate. Perhaps your daughter is not gaining weight, or has difficulty taking her meds and that is why your doctor is checking more frequently? If that is not the case, perhaps you could ask your doctor if the blood draws could be spaced out now that she is 3 months old and stable on her meds. In terms of the routine labs that are checked every 3 months, however, unfortunately there is not a simpler way to do it.

Q: Hi, I am a 44 year old female LOCAH. I was diagnosed about 14 years ago after the birth of my second child, and have been relatively stable on 5mg. prednisone daily, and antiandrogens. I have always worked out, and had no issues with maintaining my weight. Recently, though, I’ve had an almost overnight weight gain, recurrent yeast infections, and severe reduction in my androgens. My doctor and I have stopped the antiandrogen drug, but still I am having issues with fatigue, weight, yeast, and radical headaches. My most recent labs show 17-OHP at 12f, testosterone at <10, DHEAS at <3, ACTH at 8f (6-58 range). Am I oversuppressed? Is this what happens with menopause? I fear I may be my doctor's oldest patient with this disease, so we are both chartering new territory. He has done blood work that confirms ovarian failure. Please, any input would be greatly appreciated. Thanks.

A: Yes, it does sound like you are oversuppressed. It is common for androgens (along with estrogen) to drop after menopause, and a reduction in steroid treatment is generally warranted. Some non-classical patients do not require any steroid treatment at all after menopause if they are asymptomatic. Your doctor can start to wean your prednisone while checking your hormone levels after each reduction, and if they remain low, you may be able to come off prednisone completely.

Q: I have read several articles about the use of Dex during pregnancy to treat a possibly CAH effected fetus. I have not seen any info about best treatment for a mother with CAH during pregnancy when the fetus will not be effected with CAH?

I have had two pregnancies, both were difficult due to a lot of illnesses and infections. When I am on dex these things are better controlled for me, but during pregnancies I switched to prednisone and don’t feel as well controlled.

So I guess my question is what are the real risks of remaining on dex as MY treatment when my child will not have CAH?

A: Because the long-term safety of dexamethasone on a developing fetus has not been well-established, the use of dexamethasone during pregnancy without a specific indication (e.g. prenatal treatment of an affected female) is not recommended. Prednisone has some crossing of the placenta and is not our preferred treatment. Hydrocortisone does not cross the placental barrier and is considered the safest treatment during pregnancy for mothers who require treatment for their own medical condition.

Q: My daughter was diagnosed with LOCAH recently. She is currently on cortef 3X a day. In a variety of websites, they mentioned that with CAH you should exercise, but competitive sports were discouraged. She is currently doing competitive cheer. I worry about the safety, but is there another reason for these comments? And, is this a referencing to people with a more severe case of CAH?

A: Exercise is indeed recommended for everyone, particularly to stave off the risk of weight gain that can be associated with chronic glucorticoids.
Extremely vigorous sports is not necessarily contraindicated for CAH, but patients with the severe salt-wasting form do need to take certain precautions to ensure that they do not develop hyponatremia (low sodium) or hypoglycemia (low blood sugar). In severe hot weather, excessive sweating can lead to salt loss as well as dehydration, so they need to take frequent breaks for fluids with electrolytes and carbohydrates. For the milder form of CAH, there is no reason not to participate in competitive sports; however, your daughter is at risk for an adrenal crisis since she is taking chronic glucocorticoids. Therefore, she should wear a medical alert bracelet that states she has “adrenal insufficiency” and have injectable Solu-Cortef on hand in the event that she has a traumatic injury.

Q: My daughter is 7 and has started to develop body odor. Is this normal for a child with CAH?

A: An adult-like body odor in a young child is a sign of androgens, which may come from CAH or sometimes from puberty. If your daughter has body odor or acne or a growth spurt, it may be a sign that her medication needs to be adjusted. Please consult with your endocrinologist to check her labs and make sure that she is on the correct dose.