What is an autosomal recessive disorder? An autosomal recessive disorder is a disorder of the autosomes, basically a disorder of any of any chromosomes which are not a sex chromosome. In the case of NCAH, the gene that is affected is called CYP21A2. The recessive part means that both autosomes of the affected pair must be affected for a person to actually have the disorder. There are three possible autosomal combinations. A person with two normal autosomes. This person is healthy and does not have or carry NCAH. A person with one normal autosome and one affected autosome. This person is healthy and does not have, but does carry, NCAH. A person with two affected autosomes. This person has NCAH. If two carriers were to get married, the statistical probabilities for their resulting offspring are shown in the image on the right. (Source) This shows all those combinations.While NCAH is the one of the most common autosomal recessive disorders, it is still classified by the National Institutes of Health (NIH) as a rare disease, meaning that under 200,000 people in the United States have been diagnosed as having this disease at this time. However, I suspect that this disease is less rare than the NIH believes, and that this it is simply under-diagnosed.
One thing I hope to do with this blog is raise awareness of this disorder and hopefully help people who have this disorder learn more about it, but even more importantly help people who have this disorder and have not been diagnosed realize their condition and become diagnosed and also help raise awareness. This is a very treatable disorder which, if left untreated, can really mess with a person's life on many levels, and I am so very grateful that I had an endocrinologist who was so alert to the discrepancies in my blood work and investigated further instead of accepting my previous diagnosis.
Hello. I was wondering if you had success with treating your NCAH?
ReplyDeleteLaura, yes, as of September my male hormones, both DHEA and Testerone had returned to normal levels. My periods have gotten a lot better as well. I'm still struggling with thicker facial hair, but overall I am much healthier.
ReplyDeletehi... iwas wondering if you improved with the dexamethasone, and if u have experienced any unwanted side effects from the medication? i was recently diagbosed with NCAH, and my doctor prescribed dexamethasone and fludricortisone, but I am a bit worried about taking these medications. I know that they cause several side effects (weight gain, hypertension, osteoporosis, etc.) Did you doctor mention how long you had to be treated for? Thank you.
ReplyDeleteHi Marja,
ReplyDeleteYes, I improved a lot with dexamethasone. My hormone levels normalized after about 9 months and have remained pretty stable since. I didn't have any noticeable side effects other than a general drop in inflammation. Usually the doses are pretty low. I only am on 0.25 mg once a night, so the side effects wouldn't be huge anyway. For NCAH if you are symptomatic enough to be treated, you are on the medication for life as far as my endocrinologist is concerned. Basically, your adrenal glands can't do what they're supposed to, so we are artificially supplementing them so we have normal body chemistry. That issue with your adrenal glands will not change, so you have to supplement them for life to stay healthy. I hope this helps!
Hi Hope!
ReplyDeleteI've just recently discovered your blog and I have to say thank you, it's very well written and so informative.
Can I ask you something?
You mentioned being on Dexamethasone.
How long have you been on it and with regards to your periods, did it normalize as in 1x/month cycle? My daughter's issue was frequent menstruation (2x/month).
Any weight gain as well, or frequent hunger feeling?
Thank you very much.
;-) Adi
Hi Adi,
ReplyDeleteThanks! I'm glad it's been helpful. :)
I've been on dexamethasone for about 3 years now, and it really helped to normalize my cycle. Mine now is around 24 days long, instead of being more like 18 days.
I haven't had any increase in hunger or much weight gain. Remember, the steroid dose is meeting your physiologic need.
A healthy person's body produces a certain amount of steroid on its own that does not cause extra hunger or weight gain, it's just the amount needed to function normally. In the case of someone with NCAH (like me or your daughter), their body does not produce enough steroid on its own to allow their body to have normal functioning (leading to issues like frequent menstruation). The dexamethasone (in my case, other people are on other steroid options depending on what works for their bodies) brings the steroid dose in the body back up to normal levels, hopefully eliminating the symptoms of NCAH. Essentially, this means that the side of effects of taking steroids are usually a non-issue because, unlike a person with normal adrenal glands, you need that dose to be normal. If you take a dose that's too large for you then you might see side effects from too much steroid (like hunger and weight gain), but if the dose is appropriate then you should not be seeing side effects in general.
I hope that made sense!
Hi. I wanted to ask you a few questions. Do some people do better with a higher dose of dexamethasone? Ive heard some do well with 1mg instead of the lower dose. Also...has anyone with ncah had an adrenal crisis or experienced flank pain?
ReplyDeleteHello!
ReplyDeleteSome people will need higher doses than others of the dexamethasone to meet their physiologic need. So it all depends on the person.
And yes, if someone has NCAH and they are being treated with steroids they can experience adrenal crisis. I have experienced three instances of what I believe was the beginning of adrenal crises.
I hope this helps!
Hi, I was diagnosed with NCAH 6 years ago but refused steroid (dex) treatment due to fear of moon face and weight gain. 6 years on, I'm struggling with symptoms because I'm untreated. One of my biggest symptoms is hair loss and frequent menstruation. Coincidentally, I had a root canal 4 months ago and because my gums wouldn't settle down, the dentist put me on dex (he said anti-inflammatory, I never knew it was steroids) at a low dose. I felt better being on it, my hair stopped falling out (after 7 years!), but I began to gain weight and got moon face. I didn't even make the connection to the meds until I stopped them and lost the moon face, some weight, and my hair began falling out in massive handfuls!
ReplyDeleteAnyway, now I've gone back to the endo after all this time and the new endo close to where I live wants to put me on dex for life. It'll help my hair, but what about the moon face and weight gain?? Plus, towards the end of my dental treatment on dex, I started to have more facial hair.
I'm also concerned with skin thinning and being prone to infection (I already have this!), plus osteoporosis as I'm over 40.
Any input on this? I'm not sure that to do...it's all a rock and a hard place situation. By the way, my frequent cycles didn't become less frequent when on dex for 3 months, unfortunately.
Thank you.
Hi, I was diagnosed with NCAH 6 years ago but refused steroid (dex) treatment due to fear of moon face and weight gain. 6 years on, I'm struggling with symptoms because I'm untreated. One of my biggest symptoms is hair loss and frequent menstruation. Coincidentally, I had a root canal 4 months ago and because my gums wouldn't settle down, the dentist put me on dex (he said anti-inflammatory, I never knew it was steroids) at a low dose. I felt better being on it, my hair stopped falling out (after 7 years!), but I began to gain weight and got moon face. I didn't even make the connection to the meds until I stopped them and lost the moon face, some weight, and my hair began falling out in massive handfuls!
ReplyDeleteAnyway, now I've gone back to the endo after all this time and the new endo close to where I live wants to put me on dex for life. It'll help my hair, but what about the moon face and weight gain?? Plus, towards the end of my dental treatment on dex, I started to have more facial hair.
I'm also concerned with skin thinning and being prone to infection (I already have this!), plus osteoporosis as I'm over 40.
Any input on this? I'm not sure that to do...it's all a rock and a hard place situation. By the way, my frequent cycles didn't become less frequent when on dex for 3 months, unfortunately.
Thank you.