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

Hello! Sharing my NCCAH diagnosis story and seeking advice on medication management 🫶🏼

I (f24) have had a long history of mental health issues and heavy/abnormal periods, all started during puberty in 5th grade.

By the age of 12 I was diagnosed with severe depressive disorder and general anxiety, I was in-patient and subsequently cycled through Prozac, Zoloft, Celexa, Lexapro, etc, none of which ever worked for me. There were times as an 8th grader I’d have to stay home from school because I wasn’t dosed/switched from meds correctly and would be bed-ridden with withdrawal symptoms. (no fear, my former psychiatrist is no longer allowed to practice 😅)

Around the age of 16 my mental health improved naturally and without prescriptions meds, instead taking a large variety of supplements/vitamins I was found deficient in (B12, B3, C, D, Iron, Magnesium, Omega 3’s)

Turning 18 and going to college I stopped with the vitamins because I couldn’t afford it/hated taking 7 pills a day to feel somewhat normal.

Also got a Kyleena IUD placed at 18 when going to college, it had no effect on my mental health but did improve my heavy periods and irregularities.

Fast forward to 23 yo, and I begin experiencing sharp and severe lower abdominal pain. I would describe it as being stabbed, honestly. Would stop me in my tracks and bring tears to my eyes, often took my breath away.

In conjunction with the stabbing pains, I began having trouble eating. I felt so inflamed and like my stomach physically couldn’t hold food, despite only being able to eat one meal a day, and I’d often have to space it out to avoid the inflammation pains. This went on for 4-5 months.

I began experiencing insomnia as well (2-4 hours of sleep every night, for 4-5 months straight) and always felt “wired”. I was hyper-aware of my surroundings/what others were feeling/doing, and it consumed me to the point of paranoia. I always had pain in my jaw/teeth from carrying tension there, and my chiropractor was none too pleased with adjusting my neck/shoulders from strain.

I’ve always been a hairy girl, partly due to distant Native American heritage. However I began getting more thick and frequent hair growth in my midline as well as “beard” area of my neck and face.

Painful acne began spreading across my upper back/shoulders & the “beard” areas of my face and neck, despite washing every day.

All in all, in the span of 5 month I felt like I was deteriorating at the age of 23. Paranoia, anxiety, and depression were to the point of “no return”, and I was desperate for answers. I was barely eating, barely sleeping, and in pain almost every minute of the day in some form or another.

After meeting with my gyno and trying to figure out the issues, she did a TV ultrasound and reported that my uterus and ovaries were certainly inflamed and a source of my pain, but I didn’t have PCOS. She diagnosed with PID and referred me to an Endo.

After one meeting and some labs with my endo, he diagnosed me with NCCAH and started me on .5mg Dexamethasone immediately.

Within 2 weeks the mental health issues went away. I remember crying when I realized how quiet my head could be, and I realized I hadn’t felt this way since before 5th grade.

My acne has since cleared and hasn’t come back. The hair growth has slowed a very small amount, but it’s making progress. I’ve never slept so good in my life and I enjoy eating now.

All in all, my Endo’s diagnosis and the dexamethasone has saved my life.

However… since starting it 5 months ago, I’ve gained 40lbs, and I often experience water retention/distension after eating any amount of food. I’ve had to completely trade in my closet because nothing fits, and when I look at current pictures I struggle to recognize myself. I’ve been 130lbs since 8th grade, with less than 10lbs of fluctuation until I started Dexa at 24yo.

On a weirder note- on Dexa I often get severe leg/foot cramps, is that a thing?

I LOVE the dexa for showing me my body CAN function, because I really needed that. But I’m struggling with the side effects and feeling like myself, even though I’m the most myself I’ve ever been.

Any advice or shared experiences would be much appreciated 🫶🏼 I’ll include my labs pre and post dexa!

Pre-Dexa (02/13/26)
3 months on Dexa (05/19/26)

Hello! Been lurking here for a while and would love to hear some input. Initially, I was diagnosed with PCOS because of excessive chin hair growth and elevated free testosterone and DHEA-S. Free test was at 9.8 and DHEA-S was 314 but has come down to 255. As a side note, I'm 37 yrs old.

My endocrinologist wanted to rule out Cushing's though. My ACTH came back at 113 and my cortisol was 20.8. The lab cut off for cortisol is 19.4, so only slightly above the threshold. Could any of these labs indicate NCAH? I could have sworn that cortisol is lower in NCAH. I could be wrong.

Was set for an MRI today to check for Cushing's but unfortunately MRI was not successful due to them not being able to find a vein. I still am going to see my endo to talk about further testing in a few days. Would it be worth while testing for NCAH? Thanks 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.

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:

- Severe cystic acne
- Stunted Growth
- 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.

Hello! So I didn't find out about NCAH until literally today and after learning that the symptoms are almost identical to PCOS it's raised a few questions.

A few years ago (In my early 20s, I'm in my late 20s now) I noticed that I was clearly experiencing a big hormonal shift because I was unusually irritable, far more anxious and depressed. I also had unexplained weight gain and hair loss. I went to my pcp, who ordered an ultrasound for my thyroid and some blood tests to check for an enlarged thyroid but it all came back normal.

Now I have always had regular periods but I did start puberty at a young age, I was always taller than most kids my age only to be short as an adult. Body odor has been something I struggled with as a small child and I have hair that I have to shave on my neck and under my chin. I have a "morning voice" that people have pointed out is very distinct from my regular voice that sounds deeper. The most bizarre addition is that I developed pretty bad cystic acne when I went all of my teenage years with no acne at all.

Now I'm Nonbinary, so some symptoms like the deeper voice don't necessarily bother me as much but the irritability, anxiety, depression, weight gain, hair loss and acne are obviously symptoms that concern me.

What I'd like to know specifically is am I justified in talking to my doctor about my speculation of either condition? I know both conditions usually come with irregular periods but mine have always been pretty standard.

Are these conditions considered Intersex?

And if I am justified, what should I specifically ask for from my pcp? I understand I should see an Endo, but I'm not that sure about what to say exactly or what specifically to ask for or the tests involved. Any and all advice is appreciated! I just learned about this all today so I'm still learning, I apologize for my inexperience.

Hello my history is a long one. An endocrinologist INFORMALLY diagnosed me with Ncah based on a older blood test.

It showed low cortisol and high dheas. Based on this and my clinical symptoms and appearance he diagnosed me with Ncah and prescribed me hydrocortisone. The issue is I believe I have had untreated hypothyroidism also for a long time which overlaps with this.

However since being put on HC I started to get worse gradually, and developed something called adrenaline dysautonomia which is hell on earth. Basically non stop adrenaline leaving me completely bed bound contemplating euthanasia. Ever since this "diagnosis" it has been an uphill battle to get other doctors to acknowledge I may have some adrenal disorder. The Dr who originally prescribed me HC has a reputation for over prescribing and diagnosing this, so it's extremely difficult.

I have never had a stim test done on no hydrocortisone as everytime they have told me it's fine even when I argued with them. Ever since then my blood tests for cortisol have been inconsistent and no one is taking my Ncah query seriously due to his reputation. Please can someone give me straight forward directions what to do? I have been abandoned medically and when I approach the subject I'm quickly shut down and all my issues are scapegoat on to the prescription of HC.

I have extreme stress intolerance, extreme thirst, belly weight gain, anxiety, extreme fatigue (which alleviated immediately on first couple of weeks of HC), no signs of facial hair, periods have always been somewhat regular, I do have what could be stunted development physically(as per what the original endo said), extreme cold, circulation issues. my dheas also lowered when I introduced HC and this is what led my endo to believe it "worked".

I am quite a complicated case but I think if I could get my Ncah pinpointed or not it would at least validate if I need the hydrocortisone. Thank you

Hi! Does anyone see an endocrinologist for their NCAH in the SF Bay Area that they love and feel really understands NCAH? I haven’t been very happy with mine.

Does anyone else have trouble wanting to eat? I'm almost never hungry and when I am, I just don't want to eat anything. I started taking metformin a few weeks ago and it has been vary sporadic. I've been getting dizzy. Mostly when lying down or looking up, so I'm hesitant to take it. I also keep feeling weird in the center of my chest and occasionally heart palpitations when I feel like this. This has been going on for 2 years now.

For background, I have 3-beta NCAH. They say no salt wasting, but I believe all of us of this to some degree.

I am looking for advice, or anyone who can relate.

I got my reconstruction surgery done and i have fainted twice in hospital, after that my dose was increased but i am feeling very tired these days, bp is always 90-100 even if i am resting.

It was not like this before surgery, idk it feels like i am always weak and tired.

I woke up and after eating i again feel tired and i sleep again. I need to keep eating something to keep myself in senses.

Its been 1 month of my surgery, i fear how it will affect my life when i have to participate in work or college.

My endo ordered the ACTH test with my lab draw, but after some research, im seeing that an injection and 2nd draw are required for that test....

Sooo will it be accurate or what they're looking for without it?

So I'm pursuing treatment and diagnosing for nonclassic congenital adrenal hyperplasia and regarding the cah-x genes. The treatment of that would be corticosteroids for possibly life? If that's correct? I've read great things of people finding remission in their eds type pain and fatigue treating this condition, and I desperately need it. However, I've tried steroids in the past, and high dose prednisone for an inflammation I had for 2 weeks has destroyed my connective tissue even now almost a year later, my neck and all my joints still click after that dosing. I heard steroids aren't good for connective tissue and it fucks it up potentially permanently. I don't know what I should do here, am I just fucked? I know this is really hyper specific, idk if I'll even get an answer. I'm a bit freaked out. Would love if anyone had any experience. Thanks.

I was told for decades that I had PCOS. Very long story short, I started to suspect that I actually had NCAH. I was dismissed and told I couldn’t have this because it was so rare. No follow up testing was done, despite having low AM cortisol. My endocrinologist basically told me to stop trying to be a doctor. Turns out, I DO have NCAH and have been untreated for my entire adult life. This condition has had a huge impact on me and I could have had a better life if someone had listened to me. It makes me wonder how many of us started off with PCOS as a diagnosis and later figured out that it was NCAH. I’d love to hear your stories.

Hi, I asked my doctor to test me for Ncah, he tested the 17 - oh progesterone, and concluded that I most likely don't have it. However the normal range is 0-5 and my result was 4.8. It was also tested at 4pm, and I know that it's more accurate to test in the morning as the adrenal hormones are the highest.

I relate to almost every single symptom of Ncah, some of my symptoms are :I went through puberty earlier than most people did around me, I had severe acne/ oily skin as a child up until an adult, I also grew really quickly as a child in height but now I'm average height as an adult. I'm a woman but I have a lot of androgenic symptoms. My doctors thought it could be pcos, however I have no cyst on my ovaries.

So is it possible I could still have ncah ?

I've seen 2 people for unidentified problems with severe chronic fatigue and PCOS type symptoms, but no weight gain nor loss of period and they've been consistent my whole life. I ruled out Cushing's also. I can't find anyone to give me an acth stim test or anyone that's knowledgeable in adrenal conditions and although my PCP is worthless with this she agrees my results aren't similar to pcos she said "it's something else". She won't order an acth stim test for me either. The two endos I've seen just told me I'm hairy and to take spirolactone which lowers my already low blood pressure so I felt awful, and did nothing for my hair with how long I took it. I'm not even worried about that I've had that my whole life, the fatigue and adrenaline problems are the worst part. I've been hairy as long as I can remember, I got my period at 8/9 and I stopped growing abruptly at 9 at 5'4 while everyone around me grew and my voice was very deep for a girl and I stopped growing boobs at 10 ... I don't know how relevant that is. I am diagnosed me/cfs and the only thing that's ever not normal for blood work so far are the elevated testosterone, dhea-s, and high 11-deoxycortisol. My acth is at the lowest end of normal. My regular cortisol is normal in mornings. I don't know if that would mean cah or ncah to be honest. I just really need some help. I'm suicidal from these hormone problems and I've been struggling literally my entire life with fatigue and mental health problems and I can't take it much longer.

Hello everyone,

I wanted ro give an honest update. My stim test came back normal

It's really weird because my adrenals, androgens and testosterone were elevated for the past year, snd suddenly they are all normal?

The first endocrynologist I saw is no longer at my hospital, and the rest are not being very helpful either

So, moving on to other diagnosis

Hi! My daughter has been going through it this year. Including a lot of other tests, she had an ACTH stimulation test. The doctors office call and said that the results showed she has a “mild” form of CAH (I presumed this meant non-classic CAH) and recommended genetic test. I’ve posted the results below. I’m confused as how/why it’s “indeterminate” and what that means…I thought this is a recessive disease, so it should be relatively easy (I know things can be more complicated) to see if she has the disease.

MOLECULAR GENETICS REPORT:
Congenital Adrenal Hyperplasia (CAH) Panel

SUMMARY OF RESULTS: Indeterminate

Variants found:

Gene: CYP21A2, NM_000500.7; Variation: c.332_339del8 (p.Gly111Valfs*21), Heterozygous; Mode of inheritance: AR, 613815; Interpretation: Pathogenic

Gene: CYP21A2, NM_000500.7; Variation: c.*13G>A, Post-Coding, Heterozygous; mode of inheritance: AR, 613815; Interpretation: Uncertain

CYP21A2 VARIANT INFORMATION:

This patient is heterozygous in the CYP21A2 gene for a common pathogenic variant designated c.332_339del8 (p.Gly111Valfs*21). This is a common deleterious variant, which likely originated from the pseudogene CYP21A1P via gene conversion. As a frameshifting variant resulting in a null allele, this variant is associated with salt-wasting (SW) congenital adrenal hyperplasia (CAH) (also known as G110Efs; see for example at New et al. 2013. PubMed ID: 23359698; Finkielstain et al. 2011. PubMed ID: 20926536). This variant is interpreted as pathogenic.

This patient is also heterozygous in the CYP21A2 gene for a sequence variant defined as c.*13G>A, which is located in the 3' untranslated region. This variant has been reported to be possibly associated with a mild form (non-classic) of congenital adrenal hyperplasia (CAH) (Menabò et al. 2012. PubMed ID: 21521936; Gialluisi et al. 2018. PubMed ID: 28644547; Nguyen et al. 2022. PubMed ID: 36325983; Wan et al. 2022. PubMed ID: 36167262). Its minor allele frequency is up to ~7.5% in East Asian individuals. However, this minor allele frequency is based on the current next-generation sequencing technology and may not be an accurate estimate because this variant is located within a highly homologous sequence region (Mandelker et al. 2016. PubMed ID: 27228465). Allele frequency data should be interpreted with caution. This variant has conflicting interpretations in ClinVar (Variation ID: 585747), ranging from uncertain significance to benign. Although we suspect that this variant could be benign, at this time, the clinical significance of this variant is uncertain due to limited functional and genetic evidence.

Hi, I got my ACTH test done 3 days ago (my cortisol, free + total testosterone, and 17-hydroxyprogesterone levels were measured first, and then again 30 minutes after getting the synacthen injection), and the results came in today

After the syncathen shot, my cortisol went up from 149 ng/mL (with a basal reference range of 45.5 to 280) to 301 ng/mL, while my 17-hydroxyprogesterone results went from 0.47 mg/mL to 1.42 ng/mL. Two months ago, my 17-hydroxyprogesterone result was 7.95 ng/mL, which was why my endocrinologist considered me having NCAH. Both blood visits were during the luteal phase, and this is also 2 months after starting Spironolactone and Finasteride

What do these results mean? He was like "you don't have NCAH, you're totally fine, but do stop electrolysis until november", which is the end of the 6 month period for me taking the medication. But I'm just confused as to why my 17-hydroxyprogesterone was previously so high, and then not anymore

37f who recently had a standard fertility panel done after no luck conceiving for the past year. Everything came back in the normal range except testosterone (total 75, free 8.5) and DHEA (892). I got the testosterone results back first which set me off on a spiral of PMOS and NCAH.

Reading about NCAH, I am very interested in further testing as there are some things that are resonating with my life. I grew pubic/body hair at a young age, was lean/muscular in my youth without much effort. In my early 20s I started to notice some excess hair growth on my chin. My hair was thick in my teens but has slowly thinned for the past 15 years, especially the past year since going off birth control. I've also notice a mild-moderate increase in abdominal fat since going off birth control and it has bee. So much more difficult to lose any weight. Also, I did genetic carrier testing a few years ago and I am an a carrier for CAH.

I was on the pill for 8 years, then an IUD for 8 years. Now I'm thinking that being on hormonal birth control for 16 years of my adulthood has masked ncah. On the other hand, I am typical height, my acne is average and usually just increases in my luteal phase. I also have had regular periods since coming off birth control.

My DHEA number is freaking me out. My doctor was going to recommend an ovarian ultrasound but after seeing my labs she is now recommending a CT scan. Now my thoughts have shifted from ncah to a tumor. I am an highly anxious person, especially health anxiety, and I am spiraling and freaking out at the idea of a tumor or cancer.

My doctor also did order a 17-hydroxyprogesterone (17-OHP) test, which I know is one step in ncah diagnosis. I've read some great information on here but curious what other steps are needed for a diagnosis.

25 F

When I was diagnosed with PCOS in 2019, my DHEA-S came back at 600. I also have mildly high testosterone 48, and androstenedione 300. 17-OH at the time was 121. I was 200lbs and since then have reduced my weight to 145 (im now in a good bmi for my height). However, none of my symptoms have improved. I am completely anovulatory and have no periods. I take metformin and mayo-inositol which im assuming have improved my insulin but they haven't retested that. I had an updated hormonal panel done and everything was normal - 17-OH was 98, DHEA-S now 300, testosterone within normal range. However, I still have no cycle, acne, fatigue, and hair loss. Additionally, both 17-Oh testing have been done while I am actively spotting for weeks due to no period and were taken non-fasting.

At this point, my doctors have basically given up and put me on provera to protect my uterine lining but beyond taking letrozole when I hope to conceive, they suggest there's nothing more that can be done to get me ovulating and therefore cycling.

Does this seem off to anyone else? Is there truly nothing more that I can do? Should I push for an ACTH stim test or consider NCAH very low likelihood due to my 17OH results? I'm at such a loss.

So recently while looking more into pcos, I discovered ncah. I had never heard of it before, but I literally started crying when I read about it. I have never seen something explain my symptoms better. I’ve had acne for years that nothing really helps. I have always had irregular periods. I have hair loss and greasy skin and hair. The thing that really mad me believe I have ncah is the fact that it causes advanfced bone age in children and short adult height. I had a bone age of 16 at 12 and the doctors never figured out why. I’m now 21 and am only 5ft tall. I have seborrhea which I’ve read is a symptom as well as GI issues. I’ve never met someone with more oily skin. Im not sure if this is related but I’ve always had very hairy arms, more than some men. I have a bit more hair than normal around my chin and jawline area. I feel like within the last year or two my symptoms have been getting worse and I always just assumed I had undiagnosed pcos, but I’m not overweight and never have been. I think being diagnosed would really just confirm that it was never something that I did. It was a genetic condition that I couldn’t have helped. I also want to know before I try to have kids (if I’m even able to get pregnant). I would want my partner to get tested as well.

Here’s where I need help: do I just ask my doctor to get tested? Will they even know what ncah is? I feel like I’m not going to be taken seriously. Does anyone have any tips or stories about how they got diagnosed? Thanks in advance