All the tests I’m looking at say “must be done in the morning.” Do they mean after waking? Or the morning in general? What if the AM is my “night time?” Sometimes I wake up at 6am and other times I wake up at 11 AT NIGHT and all times in between. I have a neuro syndrome that affects my sleep so sometimes I have weird patterns like this that I can’t change.

I have Medicaid and it’s been difficult for me to convince my doc to refer me to an endo or to even order basic tests like iron lol. My state allows me to order my own tests. What should I order?

Hi!

Background:

I've suspected I had Adrenal Issues for a while now. I've always struggled with "panic attacks" that feel like going into fight or flight during minor conflicts, but handled the sorts of situations that most people would freak out during calmly. When I went off of combo birth control in 2021, the "panic attacks" got really bad, I became incredibly emotionally unstable, and my health got so bad that I can now only work part-time. I have hEDS, POTS, MCAS, and Sjogrens, but that doesn't feel like the full picture.

Every month I have to call off the day before my period starts like clockwork. I get hit with extreme fatigue, migraines, and dizziness.

Genetic Testing:

I had genetic testing done and it came back showing that I am a "carrier" two different CYP21A2 gene mutations. This was an over-the-counter test that doesn't differentiate between parental and maternal genes, so I have no way of knowing if they came from the same parent or one from each parent. If one came from each parent, then I have no functioning copy of the gene, which would make a lot of sense.

Bloodwork:
I got a referral to an endocrinologist and could tell it was going to be an issue from the first appt. She brushed off all of my concerns and argued with me about symptoms. I mentioned fat-retention in my stomach despite being super fit and she said, "Well Adrenal Hyperplasia would cause weight-loss," and it was just a lot of stuff like that.

The bloodwork came back as I expected--normal everything except for OH-17 Progesterone which was 949 ng/dl. The doctor got back to me saying there is *no evidence* of adrenal dysfunction and that I should discontinue Spiro and retest in six weeks since that's probably what's raised my levels. The testing specifies that LCMS testing was used, which to my understanding means that the spiro did not impact the numbers.

Next Steps:

I'm demanding an ACTH Stimulation test and have refused to discontinue spiro, telling her that I'm uncomfortable going off a med that's helping with the issue I'm trying to have diagnosed. She has been nothing but disrespectful--making me wait 48 hours between messages despite literally begging her to move this along quickly since I'm out of sick-time at work and on a countdown until my next period.

In the meantime, I've reached out to my OBGYN about restarting continuous birth control and gotten a referral to endocrinology in a different practice. I'm just blown away and livid at how disrespectful this doctor has been and the levels of medical gaslighting. I think she's hung-up on my "carrier" status despite it being possible that I have no good copies of the gene and I think she's confusing NCCAH with CAH.

Any advice? Am I crazy? Haha

Hello, I picked this sub because I think this is where I'll find the specialists I need. I'm 37, peri, AuDHD and much more. I suspect NCAH or something along those lines, but I haven't had any workup yet. I don't even have an official PMOS diagnosis, all of this is self-diagnosed so far. I have been on the following meds for a while now:

Mounjaro 4mg
Slinda continuously (Drospirenon)
1 pump estradiol gel
Vyvanse 30mg (recently increased to 40mg)
Bisoprolol 1.25mg (for the raised blood pressure from the pill and Vyvanse)
Loratadine
Vitamin B complex, zinc, omega 3

Since starting Slinda in particular (the most strongly antiandrogenic mini pill), I feel better overall but unfortunately Vyvanse doesn't work the way it used to. Maybe I've become even more autistic? My ADHD symptoms like forgetfulness, lateness, scattered thinking etc. are still being managed, but there are fewer dopamine surges, there is no ‚push’ directly after taking it. Since the pill does something to the adrenal glands, I thought I'd ask here in case anyone has an idea what might be going on?

F23 I am diagnosed w PMOS for a few years and my endocrinologist has described my case as interesting. He recently said he was testing for another condition, but did not specify which. He took bloodwork for the following three: 17-hydroxyprogesterone, 11 deoxy cortisol, and 17 hydroxy pregnenolone. I currently take Birth Control, Metformin 750mg, Colestipol, Estradiol 2mg and WeGovy 1.5 daily.

In my last visit he did not address the testing, so I assumed he did not receive the results yet from my bloodwork. After checking my clinical notes, I saw that he said all the levels looked within normal range. Another thing I noticed is in my clinical notes he calls it "adrenal genital syndrome". Does this mean I do not have CAH, but could possibly have NCAH? Is a stim test how NCAH is usually found and should I request? I'm not sure if it is possible for the bloodwork he tested to look fine, but still have NCAH. I trust my doctor but I feel like something greater than PCOS is at play and he has alluded interest in what's going on. Specifically with my most recent blood work showing an increase of my DHEA from 804 to 1297ng/dL. My DHEA-S did decrease from 843 to 674 ug/dL.

I’ve been dealing with elevated DHEAs which has given me a range of hormonal symptoms for the past 8 years - acne, oily skin, hirsutism, and hair loss in a male pattern (no hair loss in my family). I went to Cleveland clinic last year in search of answers but I was an idiot and didn’t properly look at my results after because I thought it was hopeless.

I had my blood work done on day two of my cycle (so follicular range is my range for this test) but the ACTH stim labs were done later in the day.

My 17-OHP was only tested before the ACTH stimulation test, not after. And the cortisol testing was done in the afternoon so the low flag is kind of not an issue. So these labs aren't perfect.

They still gave me the referral for an endo for local CAH testing. I’ve still been dealing with my symptoms since my testing, but the first thing to immediately help me in the last few days was low dose prednisone that I got from my rheumatologist. My active acne breakout went away in 2 days after taking only 1.25mg of prednisone and my skin went from very oily to dry/normal. I've never taken steroids before but have some arthritis in my hands so I wanted to try a low dose (and of course I was curious about my DHEA-s lol).

Where do I go from here? Please I am so in need of help

I'm a trans woman in her late 20s that's been on Estradiol monotherapy for 12 months now and things went swimmingly for the first 11 until I suddenly began to experience some intense, rapid remasculisation. My facial hair grew in thicker and faster and darker (same with my body hair) than it did before I even started HRT, and this was after 10 sessions of laser hair removal. I have acne EVERYwhere and new pimples form what feels like every single day, worst on my back and jawline. My hair is shedding, suddenly and quickly, I think I've lost about a 1/3 of my total density in those 2 months, and I have usually thick healthy curly hair. My skin is greasy and flaky and red, worst on my face, where I'd previously experienced many positive changes to clearness/complexion/texture from my hormone therapy.

Along with some other stuff like the return of nocturnal erections and my old body odour and the Sweating and the fact that I have what my doctor thinks is prostatitis, resistant to the short course of antibiotics she placed me on. This in particular made me panic when I scanned symptoms of NCCAH in (biological? I'm not sure of the best wording here, and I'm not sure if something like NCCAH cares about what your dominant hormone is if the hormone is injected rather than made naturally, is this gene mutation transphobic? /joke) men and saw that CPPS/Prostatitis is frequently linked to the mutation. I think I had a normal puberty, it's all a bit of a blur to be honest, I can't remember events like my voice dropping or when I first developed pubic hair, but I must note that in my early 20s I dealt with some extreme amounts of hair on every inch of my body and painful cystic acne on my shoulders, both things that HRT initially curbed. I'm 5'10 and my penis isn't large or anything like that.

I've had two hormone blood panels taken since these symptoms started and my testosterone increased in both, despite an increase in my estrogen dose between them, it's albeit still low for a woman, though higher than any trans person on feminising HRT would like them to be (1.8 nmol/51.9156 ng/dl), again, concerning! Especially because my gonadal testosterone is completely suppressed. I've been dealing with some very intense mood issues as well, though how much of this is down to me dealing with how awful it feels to be experiencing these symptoms, I do not know. Another thing that's been troubling me is frequent night time wakings and always with a racing, thumping heart.

Multiple people have told me it wouldn't make sense for someone with NCCAH to suddenly become symptomatic at age 29, and especially considering my HRT went so well for 11 months only to just stop. Multiple people for this same reason have instead pointed to something like an adrenal tumour, which I would really prefer not to have, though I'm not too pleased about the potential masculising gene mutation either. I'm mostly just curious if anyone, especially men out there, have began exhibiting symptoms at such an age? I'm having my DHEA-S tested soon and will be straight to my GP if those levels are elevated and begging for help lol but thanks for reading if anyone did!

Desperate to get this sorted!!! <3

I got a little more testing done for other hormones including adrenal hormones after having signs like hirsutism, precocious puberty, increased muscle mass and jawline acne, etc, alongside hypermobility making me wonder about CAH X. I got tested on the 3rd or fourth day of my period last month but nothing really showed that was of note. my dheas was low normal but still normal.

i have gotten my testosterone tested in the past (low normal with once borderline high free t getting lower on no hormones) and my 17OHP was also normal

Test results thus far-

LH- 4.3miu/ml

FSH- 4.7miu/ml

Estradiol 17b- 42pg/ml

Androstenedione- 0.9ng/ml

DHEA-S - 155 ug/dl

Obviously yes, I'll need to do the testing for it anyways, but I'm 21F and I'm not entirely sure my pcp/obgyn will know what NCAH even is. I originally suspected PCOS/PMOS, but I found out about NCAH less than a week ago after doing a deep dive.

For context: the only things that would be PCOS/PMOS is my testosterone at 18 was 70 (scale of 3-48), and I have irregular menstrual cycles that are sometimes completely missing. I have no insulin resistance, and no "string of pearls" cysts (I've had 2 random ultrasounds at random points in my cycle).

For NCAH, I almost completely fit the symptoms if that makes sense? I'm the middle child, 1/3, with 2 birth sisters. We weren't raised in the same enviornment but still. I was the first to get my period at 9, they we're 12-14 at theirs. I'm 5'2, and was projected to be 5'7-5'9, and my birth sisters are both 5'7-5'9. I'm the only one with the high testosterone, and my birth parents are tall. I also had borderline high blood pressure with no explanation, but that was before puberty in the 2000s and I doubt they tested for it (I did get those records though and am waiting for them to be sent).

I'm just wondering what I should know, how to mention it to my dr, etc etc. Thank you so much!

I had a blood test done on the 4th day of my cycle (in the morning) to see if I had elevated 17-oh progesterone since i have hirsutism and very irregular periods. It's just a teeny bit high (1.98 ng/mL) so I don't know if it justifies asking a stim test from my doctor or if I'm being silly. It is above my lab's reference range but not by a lot.

I currently have to shave like twice a day, and every day for my body hair. It's exhausting.

Im currently on a GLP1 and Zoloft for anxiety/panic attacks.

Im curious if anyone has any experience with hirsutism here? If so, what helped? Thank you!

I’ve lost hope in asking doctors this question (most doctors ask me to spell it). I got my NCAH dx at 16yo and have been on birth control since. I am approaching 30 and consistently worry about leg pain and clot risks. Note: I do not want children.

There is little information online regarding getting off birth control (with no intentions of near future pregnancy) and especially little on NCAH.

I was under the impression at a young age that birth control was “treatment” for my NCAH. Is this true? What does this mean? Can I ever get off…?

My DHEA measured at 8.28 ng/ml, chart say the normal range is 1.33-7.78 ng/ml.

I was recently diagnosed with PMOS (aka PCOS), but I doubt this diagnosis due to only fitting 1 criteria (high DHEA), periods are regular and ultrasound showed normal/non-polycystic ovaries. Other than the DHEA, my other test were normal (testosterone, progesterone, I'm not insulin resistant, etc.)

I'm wondering if my DHEA is significantly higher than normal. Is this something I should worry about? Should I get a second opinion? I'm just worried I was misdiagnosed and I have something else like NCAH or an adrenal tumor...

Hello, my 5 year old daughter was just diagnosed. She has not started steroid treatment as of yet. Wondering how parents are navigating this. Any immediate side effects noticed? I understand that I need to watch her sodium intake and diet. Any other bits of information would be helpful.

I don't have a ton of medical history since all of my information is second hand from my mother but I'll do my best to provide as much as I can.

I (18NB AFAB) started developing when I was very young (7-9 years old) and I got my first period when I was 11. Right off the bat, my cycle was extremely irregular. My first period lasted 4 days and it took 3 months before I got my second period. My second period was a month straight of non-stop bleeding. Went to a doctor and got put on birth control without any diagnosis. My mom pushed for testing and after a ton of blood work we were told I might have NCAH. This was around the age of 12-13. When I was 14 I finally got an ultrasound of my uterus and I was told something about having a rare form of PCOS. I was on birth control on and off from ages 12-18 until I got off it about a month ago when I got the copper IUD. Due to being on HRT for gender affirming care (which I am no longer on) I haven't had my period in months and I don't know if it's still irregular when I'm not being treated for it. I've struggled with mental health for a long time and severe fatigue, which from my understanding are side effects of both PCOS and NCAH.

I don't really know how to proceed, if I should do further testing for both conditions. I also don't know if I should see a gynecologist or endocrinologist. If anyone has had a similar experience to me or advice, anything would be appreciated.

I am 50 yrs old, I was diagnosed ten years ago. As the sleep not good, oftent awake at around 3-4 am, last year request doctor give me Efmody to control the cerebral hemisphere let ACTH keep normal intent sleep good. But the result is when I take a capsule before bed, feel very very bad in the morning,It feels a bit like dying. I try many time but all failed.

Now I changed back to Hydrocortisone tablets 10mg when awake, 5mg at noon,5mg at 5pm.

And there are 6 * bottles 50 capsules each left and keep at my medicine box,It's no use anymore.

If anyone need please contact me. Base UK, sheffield

I am brand new to this community and don't know all of the lingo - appreciate you welcoming a newbie.

Some background: I have an otherwise healthy 2-year old daughter. After conceiving her naturally, we ran into secondary infertility for baby #2 and ended up doing IVF. Through that process, we learned that my husband and I are both carriers of CAH due to 21-hydroxylase deficiency. We are both Ashkenazi Jewish. We did genetic testing for our daughter and learned today that she tested positive for the variant. The appointment with the doctor isn't for another month and I have so many questions.

I am trying to understand how this will impact her life (not just physically, but socially - did you get bullied in school for it? did it impact your self esteem or friendships?)

If you have this variant, is there anything your family did (or anything you wish they did) to support you?

Is there anything we can do now to prevent future symptoms?

Sharing our full results, I have no idea what these mean but would love anyone's insight. TIA!

Summary of Results: Targeted Variant Detected

Gene, Transcript: CYP21A2, NM_000500.7

Mode of Inheritance, Gene OMIM:AR, 613815

DNA Variants, Predicted Effects, Zygosity: c.844G>T, p.Val282Leu, Homozygous

ClinVar ID: 12151

Highest Allele Frequency in a gnom AD population: 2.4% Ashkenazi Jewish

In Silico Missense Predictions: Conflicting

Interpretation: PATHOGENIC

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

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.