r/NCAH

I don't have a NCAH diagnosis yet but I think it is highly likely. We've been ttc for a year, which prompted me to do testing, which revealed high dhea/testosterone. And then my 17-OHP test results last month were 1797 ng/dL. I also have at least 1 gene copy based on previous carrier testing. I've been referred to an endocrinologist for further evaluation and diagnosis but the wait list is 8-10 months.

Meanwhile, just got back from vacation, period 3 days late, and pregnancy test is positive. I'm kind of shocked because after learning about these hormonal imbalances I'd kind of started to give up on the idea of getting pregnant naturally.

What I'm wondering is, is there anyone on here who's had successful pregnancies without intervention? Now I'm scared that my hormonal imbalances are going to cause a miscarriage, since I'm not able to see an endo anytime soon. I'm especially scared of a late term miscarriage. Is there anything I need to watch out for? Will my high dhea/testosterone cause developmental harm?

I got back my ACTH stim test results recently, hooray! The endocrinologist diagnosed me with PMOS in the end. Though, I still am still pondering about all of the lab work and discussions I've had.

Labwork presented: DHEA-S was elevated (first 400s, second time during ACTH Stim test was upper 300s), free testosterone was in range but high, everything else was normal for what is deemed female. 17-Hydroxyprogesterone from the stim test was like... 177 ng/dl. A1c and insulin test showed prediabetes (like the start of it) and insulin resistance.

Other history: I have given birth multiple times and don't experience irregular or absent periods. From whatever ultrasounds I've had in the distant past, I don't recall anyone saying they looked abnormal or had a lot of cysts. Birth control and losing significant weight never improved my symptoms, nor did the opposite of either improve things. I also had this bizarre and similar experience while I was very ill with covid with a multi-day fever as someone I personally know with CAH had when ill with a different severe illness. When I asked, she said it what she had was a mild adrenal crisis. Although, I got out of mine fine, within hours after eating a little bit of food and trying to keep a calm atmosphere. Because of that, her encouraging me to test for NCAH, my having low blood pressure, among other things from extensive research, I reached to the present day with a diagnosis!

So, I am in this weird space where I have been experiencing hirsutism that has only gotten worse since I was an older teen and I only fit 1/3 criteria for PMOS while I am showing no signs for any other condition. My endocrinologist even said my history and labworks didn't really indicate either PMOS or NCAH, but it didn't mean it was impossible for either.

So... I guess that this is it? Unless I messed up my tests or forgot something, I suppose I have PMOS? Haha! Anyways, I'll always support every person's journey to advocacy and getting answers for their health. It irked me so much about the clinical overlap of PMOS and NCAH, yet NCAH was often untested for and unmentioned in the medical field. I've learned so much and am grateful to have learned from amazing folk like you on here, r/intersex, and even r/PCOS! Thank you guys <3

hi! my (f23) doctor recently added a few things to my blood test to check for what im assuming would be ncah. he wrote in my notes from the last visit "17-hydroxyprogesterone, 11 deoxy cortisol, and 17 hydroxy pregnenolone all normal". he never brought up the test to me he just said he wanted to double check a few levels and when i asked at the last visit he said those levels came back fine. i do have a pcos diagnosis

would medication affect my blood test results? i currently take birth control (2yrs), estradiol 2mg, colestipol 1g, metformin 750mg (all 1yr) and he started me on wegovy 1.5 tablets a few months ago.

my dhea-s and dhea are significantly high. my dhea has gone from 549ug/dL to 804ug/dL, now to 1179ug/dL. my dhea-s has gone from 570ug/dL to 849ug/dL to now 674ug/dL. my testosterone levels have always been very elevated, but are now only slightly elevated after slowly being on medication.

so that brings up my two questions: is just a blood panel sufficient to say i am negative for ncah or should i inquire about an acth stim test? i dont really know if the difference is significant. and finally, would my current medications affect the results of what he tested?

i just want to better understand

I was wondering what peoples baseline 17-OHP generally was at diagnosis, if you’re comfortable sharing!

I haven’t had my ACTH stim test yet. My gynecologist ordered bloodwork based on hirsutism, irregular periods and follicles on ovaries. My baseline, morning 17-OHP came back at 15.5 ng/mL. My next step is an endocrinology appointment next month.

I just wanted to get a sense of where this falls compared to others here, since it’s hard to find a good reference point for what’s “typical” at diagnosis versus more severe. Or if the value is even related to severity of symptoms at all. I’d say some of mine are quite severe while others less so.

So I'm still going through the motions of managing my symptoms and seeing my provider for everything I've experienced over these last few months.

She had me repeat labs to see if there's consistency with my DHEA S being elevated and of course it still is (it actually went up) So now she wants me to do a CT scan because she now believes this is an adrenal problem not an ovarian problem. I've been reading up on the possibilities she told me which is either a growth/tumor on the adrenal gland, or a condition known as Congenital Adrenal Hyperplasia (CAH)

Basically I found out that CAH can mimic PCOS. Both have similar symptoms, but of course they're different in the way they're treated and managed. I also got a referral for an endocrinologist so I'll be seeing and speaking to them soon as well. I'm just ready to finally get answers since I've been doing this song and dance since 2020

CAH (V282L/V282L) – would you transfer an affected male embryo?

My husband and I are both carriers of non-classic congenital adrenal hyperplasia (21-hydroxylase deficiency) with the same variant: c.844G>T (p.V282L) (formerly called V281L).

We recently went through IVF with PGT-M and have a male embryo that is affected by NCAH. We’re trying to decide whether to transfer him, and we’ve received very mixed opinions from doctors and from people online.

Some physicians have told us that many males with this genotype have few or even no symptoms and may never know they have NCAH unless they’re tested. On the other hand, I’ve read posts from affected men who describe struggles with things like:

- Poor muscle recovery after exercise
- Difficulty handling physical or emotional stress
- Fatigue
- Depression and anxiety
- Other quality-of-life issues

I’m hoping to hear from men or parents of males who have confirmed non-classic CAH V282L/V282L (c.844G>T) genotype.

Thank you so much.

I was diagnosed with PCOS in my 20s and birth control controlled high andrigens until bilateral oophorectomies (surgical menopause). Can’t use anti androgens due to genital atrophy and pain. DHT inhibitors cause side effects. Anyone here in menopause on dex or hydrocortisone and have symptoms controlled? Most worried about rapid hair loss. On estrogen but not helping growth/loss.

One of the symptoms that really stand out to me is early puberty, I am one of the earliest people in my family to start, i showed signs at 9 and started my period at 10, however I did not finally reach my adult height until 16… I never really had a growth spurt height wise. It’s like my hands and feet got really big super quickly, but I still kept growing an inch each year, it did not stop until I was 16. I would’ve grown roughly 7 inches after getting my period, and I hear usually girls without ncah grow 1-3 inches after starting their period, while it says with ncah it typically causes you to stop growing after menstruation due to the androgen surge. Why did I keep growing continuously? I am not very tall, but i was very short when I started my period and im suprised I was even able to reach average height.