Possible Nonclassic Congenital Adrenal Hyperplasia ?

chipdouglas

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Sep 24, 2016
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19
Hi,



Gender : male

Age : 47

Height : 5’7’’

Weight : 200 lbs

Rx : none

Supplements : Stinging nettle root

Blood pressure : ~117/ 70



Health professionals I’ve consulted with : endocrinologist (1), General Practitioners (many), neuropsychologist (1), psychiatrist (2).



Psychiatric diagnoses : GAD, ADHD, dysthymia

Psychological diagnoses : ADHD + giftedness

Medical diagnoses : liver steatosis, Gilbert’s syndrome, Mononucleosis (15 years ago). Severe cystic acne (from age 14 to 25).



I’ve been looking for the root causes of below symptom picture. For those of you that’ve been through a similar journey, you know that you’re unlikely to find real answers within psychiatry. Psychiatric diagnoses are highly subjective ; you’d see three individual psychiatrists and chances are you’d also get three different diagnoses or opinions. Plus, psychiatric diagnoses are merely descriptive. They do nothing to inform one about issues underlying one’s symptom picture.



Core symptomatology for the last 20 years : poor motivation, low mood, non-existent libido.



An ER doc with an anti-aging medical practice on the side, has diagnosed me with a mild case of adrenal insufficiency (i.e. cortisol insufficiency). He thinks all of my issues stem from insufficient cortisol. He prescribed : Cortef (hydrocortisone) 10 mg at 8 am and between 5-10 mg at ~ 3 pm. I refused to take it, lest a shutdown would result from this. Since ACTH also drives the production of other adrenal hormones, losing the CRH/ACTH signals would further compound the issue.



Clearly, I don’t have Addison’s disease. The symptoms of an adrenal crisis wouldn’t have gone unnoticed.



Congenital Adrenal Hyperplasia (aka 21-hydroxylase deficiency) ? I don’t think I have this, especially not the salt-wasting type. Again, symptoms are so severe that It’d have been detected soon after my birth.



If anything, what I might have is : NCAH or Nonclassic Congenital Adrenal Hyperplasia, which is a mild form of CAH. In this type, the 21-hydroxylase deficiency is less severe.



The above mentioned ER doc didn’t run a Cortrosyn test, which is the test whether there’s enough backed-up 17-Hydroxyprogesterone to meet the diagnostic threshold for NCAH.



In NCAH, there’s basically low cortisol production due to a partially functional 21-hydroxylase enzyme, along with high androgens.

From what I can understand, the negative feedback loop (through cortisol) is never really interrupted, which results in high androgens but not cortisol, since however hard ACTH is shouting to the adrenals to make more cortisol, there’s a primary adrenal issue preventing enough cortisol to be made.



I’ve done an ASI (i.e. salivary) : it shows normal 4-point cortisol, but off-the-chart high DHEA. IIRC, saliva cortisol is free cortisol and DHEA is the sulfated form. Correct me if mistaken.



Other than that, serum DHT was done twice. The first time, it came back in the upper part of range. The second time around, it was off-the-chart high.



Progesterone has also been done twice : both tests were above upper limit.



Total Testosterone has been done a number of times. Most of the time, it was somewhere in mid-range.



E2 has also been done a few times. It never seemed truly high enough to be clinically significant.



UFC was done once and came back as low normal (87 out of a ref. range of 55 – 300 nmol/d).



As to prolactin, I’ve seen it about mid range and another time it was in the upper part of range.



DHEA-S (serum) was tested twice. Both time, it was in the upper part of range – near the upper limit.



What puzzles me is that my serum cortisol is in the upper part of range. So there must be something that the MD who made that diagnosis knows that I don’t relative to the difference between UFC and serum cortisol. What I know, is that some MDs think of serum cortisol as being inaccurate relative to salivary cortisol. However, tbh I’ve also seen docs who don’t trust salivary assays.



I once took 50 mg DHEA (it was prescribed by Dr. Eric Braverman in NYC). I experienced severe anxiety as a result. It clearly didn’t benefit libido.



Positives about my situation, is I’m strong as an ox. Strength goes up rather easily. However, I’m not lean.



Stinging nettle root markedly increases subjective well-being and spontaneous erections and libido. At first I thought it might have something to do freeing up Free Testosterone, but then I found this : http://www.ijcrar.com/vol-2-7/Farzad Najafipour, et al.pdf



I find interesting that some posters on RPF have seen their libido wiped out as a result of taking exogenous DHEA. One such poster wrote that he’s naturally high DHEA-S.



In order to avoid clutter, I’ll post blood works below as separate msgs.



What do you think ? Don’t hesitate should you have any questions.



Best regards & thanks !





 
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chipdouglas

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Sep 24, 2016
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These are the labs ordered by the MD who diagnosed me with insufficient cortisol :


Fibrinogen (non-anticoagulated) : 2.4 (2.0 - 3.8) g/L

Cortisol (8 AM) : 622 (160 - 700) nmol/L

Hb1AC : 0.050 (0.047 - 0.060) Interpretation : ideal glycemic control.

Anti-TPO : 11 (Negative : <45) kU/L

(dubious : 45-65)

(positive : >65)

TSH : 2.46 (euthyr :0.27 - 5.00) mUI/L

(hypothyr. : > 5.00)

(hyperthyr.: < 0.01)

FT4 : 18.9 (12.0 - 22.0) pmol/L

LH : 4 (follicular phase : 2 - 13) U/L

(mid-cycle phase : 14 - 96)

(luteal phase : 1 - 11)

(men : 2 - 9)

Ferritin : 236 (50 - 250) ug/L

SHBG : 25.3 (11.0 - 63.0) nmol/L

H. pylori : Negative

Progesterone : 4.3 men <4 nmol/L

DHEA-S : 12.3 (7.2 - 12.5) umol/L

IGF-1 (Somatomedin) : 23.4 (14.0 - 37.09) nmol/L

Insulin : 64 (30 - 90) pmol/L

Growth Hormone : < 0.1 (0.0 - 9.9) pmol/L

Vitamin D (25 OH) : 38 (30 - 125)

Total T3 (aka T3 and FT3 according to www.labtestonline.com) : 1.9 (0.9 - 2.8) nmol/L

Estradiol-17 B : 114 men : 42 - 151 pmol/L

Testosterone : 18.1 (8.4 - 28.7) nmol/L

Homocysteine : 9.5 (3.7 - 13.9) umol/L

**an Homocysteine value >15 umol/L is a risk factor for cardiovascular diseases according to The American society of human genetics and The American college of medical genetics. Am. J. Hum. Genet. 63: 1541 - 1543, 1998

===========================================================================================================================

Chemistry

Glucose (overnight fast) : 5.3 (4.2 - 6.1) mmol/L

serum creatine : 77 (62 - 106) umol/L

Sodium : 140 (136 - 145) mmol/L

Potassium (plasma) : 3.7 (3.4 - 4.8) mmol/L

Choride : 99 (98 - 109) mmol/L

AST : 18 (0 - 37) U/L

ALT : 20 (0 - 41) U/L

Gamma GT : 14 (10 - 66) U/L

Total Bilirubin : 30 (3 - 22) umol/L

Direct Bilirubin : 4 (0 - 7) umol/L

Uric Acid : 425 (255 - 460) umol/L

C-reactive Protein (ultra sensitive essay) : 0.9 (0.0 - 5.0) mg/L

Cholesterol : 4.8 (2.0 - 5.2) mmol/L

Tryglycerides : 0.9 (0.5 - 2.0) mmol/L

HDL cholesterol : 1.58 (1.00 - 2.60) mmol/L

LDL cholesterol : 2.8 (2.0 - 3.4) mmol/L

Total/HDL cholesterol : 3.0

============================================================================================================================

Hematology

Leucocytes : 4.8 X10 (9)/L (4.0 - 12.0)

Erythrocytes : 5.32 X10 (12)/L (4.40 - 6.00)

Hemoglobin : 161 G/L (140 - 180)

Hematocrit : 0.469 ( 0.420 - 0.520)

CGMH : 343 G/L (320 - 365)

VGM : 88 f/L (80- 100)

TGMH : 30.3 pg (27.0 - 34.0)

IDE : 12.1 (10.5 - 16.0)

Platelets : 245.0 X10(9)/L (120.0 - 400.0)

VPM : 7.5 fL (7.0 - 10.4)

Automated leucocyte count

Relative value Absolute value

Neutrophils 0.524 2.5 (1.4 - 6.5)

Lymphocytes 0.312 1.5 (1.2 -3.4)

Monocytes 0.081 0.4 (0.1 -0.8)

Eosinophils 0.079 0.4 (0.0 -0.7)

Basophils 0.004 0.0 (0.0 -0.2)
 
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chipdouglas

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Sep 24, 2016
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Other relevant labs the doc went over :


Dihydrotestosterone : 2015 ( [male 20-49 yo] 217 - 1650) PMOL/L


DHEA-S : 11.1 ( 4.0 - 16.3) umol/L


SHBG : not in yet--will post when I get it.



Total Testosterone : 14.8 (8.4 - 28.7) nmol/L


Bioavalable Testosterone : 10.6 ( 2.0 - 14.0) nmol/L


Estradiol-17B : 122 (42 - 151) pmol/L


Cortisol (8 hours) : 623 (160 - 700) nmol/L
Time of draw : 8:30 AM


Cortisol ( 16 hours) : 330 (50 - 500) nmol/L
time of draw 3:30 PM


PSA : 1.1 (0.0 - 1.4) ug/L


TSH : 2.06 Euthyr. 0.27 - 5.0 mUI/L
hypothyr. >5.00
hyperthyr. <0.01



FSH : 3 (2 - 12) U/L


LH : 5 (2 - 9) U/L



Prolactin : 7.2 (4.0 - 15.2) ug/L


Ferritin : 284 (50 - 250) ug/L


Folic acid : 35.8 Normal : (11.9 - 46.7) nmol/L


B12 : 542 Normal : (96 - 568) pmol/L


RBC folate : 1136 (> 634) nmol/L


Homocysteine : 7.6 (3.7 - 13.9) umol/L
 
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chipdouglas

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Sep 24, 2016
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Calcium 2.48 (2.15--2.65) mmol/L


Calcitonin 6.0 ( 0.0--9.0) ng/L


Urinary Cortisol 87 ( 55--300) nmol/d

duration : 24 hours

Volume : 1 150 mL



urinary Creatinine 13.5 ( 7.1--17.7) mmol/d

Duration : 24 hours

Volume : 1 150 mL







TSH 2.39 ( euthyr : 0.27 - 5.0) mUI/L

( hypothyr : >5.00)

( hyperthyr : < 0.01)


Prolactin 16 ( 0 - 18) uG/L



Cortisol (8 hours) 679 ( 160 - 700) nmol/L

Time of blood draw : 8: 45 AM



Cortisol (16 hours) 186 ( 50 - 500) nmol/L

Time of blood draw : 3: 30 PM



Analysis

Duration : 24 hours

Volume : 1 300 mL



Urinary catecholamines :


Epinephrine 48 ( 0 - 109) nmol/ d

Norepinephrine 289 ( 89 - 473) nmol/d


5HIAA 18.7 umol/L

5 HIAA 24.3 umol/d ( 10.4 - 31.2)


Urinary creatinine 13.9 ( 7.1 - 17.7) mmol/d
 

belcanto

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Have you done a pituitary stimulation test? This is the regular test for NC-CAH. I have the 21-OH deficiency variety; it's not a barrel of monkeys for women as it causes a mighty increase in testosterone - like three times the amount of a normal male! There are physical signs of it, though, like a short neck, thick waist, and shorter stature as the growth plates close early. Children with this shoot up taller than the others but then can end up shorter than their peers. Also, this condition (or "rare disease") is more prevalent in Eastern Europeans (like Polish and Ashkenazy Jews) and in Latinos.
 
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chipdouglas

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Belcanto,

What you wrote above, is a good summary of what I've read about it. I've spent many hours reading upon this topic of late - especially the nonclassic form.

I've not had the ACTH stim test (i.e. Cortrosyn). I'm seeing my internist soon about this.

Do you have CAH or NCAH ? Are you male or female ?

I posted about this, as I'm doubtful about the diagnosis. Actually, it is the way that MD diagnosed me, that causes me to doubt him. I've just scrolled up and realized that my post is quite long. No wonder you're the first to respond. Plus CAH/NCAH isn't a topic you normally see on such discussion boards.

The MD who diagnosed me and prescribed Cortef, diagnosed me by scrutinizing the above blood workups. He's an ER doc, who also has an anti-aging type medical practice as well. Clearly, him being an ER doc, he's not an idiot. However, I think most MDs would want to see a Cortrosyn test run first, before jumping to any conclusion and writing out a script for hydrocortisone.

He said that all of my issue stem from NCAH - i.e. low libido, anxiety, poor stress management.

Have you had significant problems related to stress management and the likes ?
 

belcanto

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I am a female with NC-CAH. I would see an actual endocrinologist as that's who's studied this uncommon disorder. Here is a link you may find useful: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program Succinctly, it's the ladies who have the most trouble with this thing because of the elevated testosterone. The 21OH deficiency gives us a progesterone deficiency, so in effect such women are inherently estrogen-dominant. So I totally avoid soy or anything else that is estrogenic that I am aware of, because my body won't balance it.
 

belcanto

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chipdouglas, I would wait before starting the Cortef, although it's a "baby dose" of cortisone, as explained by one of my endocrinologists. I did not enjoy the moon face and puffiness the steroids produced; a friend's husband remarked to her that I looked prettier after I had discontinued the drug! Adrenal steroid medication can also cause some bone loss, so be aware.

About the stress management, yes, I do stress and can be anxious - my kids call me Mrs. Monk because I'm also a little OCD.

If you want to ask someone questions, try this link: National Adrenal Diseases Foundation - NADF - the people are helpful and nice.

Good luck!
 
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chipdouglas

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I found this to be a very interesting read - correlations between CAH a number of psychopathologies, OCD being one of those :
Hormones.gr
 
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chipdouglas

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Whole milk, eggs, some nuts (almonds soaked overnight), blueberries, ground beef, turkey, rice, white potatoes, yogurt, cottage cheese, other types of cheeses, spinach, moderate to high amounts of carbs, Japanese green tea, coffee (dark roast), carrots, rutabaga, occasional ice cream. Rarely I'll have some pasta, but it's really not part of my regular diet.

That is pretty much it.
 

CLASH

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@chipdouglas
Ever try dropping dairy? Even for just a month? Maybe try switching to goat dairy for a month as well?
Your 3 core symptamology are exactly what i experienced while drinking milk. The casien fraction of milk when hydrolyzed in the GI tract releases opiate peptides that can lower dopamine and thus in turn elevate prolactin.

Also the fat content of milk contains hormones such as estrogen and progesterone, as well as some androgens, that can cause acne.

Milk gave me acne, weight gain, low motivation, low libido, hairloss and slight gyno. I’m lactose tolerant (genetic testing confirmed) as well so it definetly wasnt the lactose.

Also, atleast around this forum, we tend to try to avoid high linoleic acid foods like almonds and turkey. Maybe try switching almonds to macadamias and instead of turkey maybe some cod, shrimp, mussels, oysters, scallops (more nutrient dense, less omega 6, less Polyunsaturated fatty acids in general).

EDIT: wheat contains opiate peptides as well, as you mentioned pasta.
 
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Kaur Singh

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chipdouglas, I would wait before starting the Cortef, although it's a "baby dose" of cortisone, as explained by one of my endocrinologists. I did not enjoy the moon face and puffiness the steroids produced; a friend's husband remarked to her that I looked prettier after I had discontinued the drug! Adrenal steroid medication can also cause some bone loss, so be aware.

About the stress management, yes, I do stress and can be anxious - my kids call me Mrs. Monk because I'm also a little OCD.

If you want to ask someone questions, try this link: National Adrenal Diseases Foundation - NADF - the people are helpful and nice.

Good luck!

Hi Belcanto!

Could you share what you do to manage your CAH?
How do you adapt Peat's model, etc

Thank you -
 

belcanto

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Hi Belcanto!

Could you share what you do to manage your CAH?
How do you adapt Peat's model, etc

Thank you -
Hi Kaur Singh,

First thing is to have the genetic blood work for the CAH - for years I thought I had it because I was diagnosed by the head of endocrinology at UCLA Medical Center, and recently another endocrinologist from that same medical school told me, "Oh, that guy thought everybody had that - your initial numbers are too low for it." So I had simple blood work and it said that I do not have it after all! How weird that I had to undergo a pituitary stimulation test, etc. when simple blood work would have been enough - but maybe the blood work has become advanced after all this time?

Anyway, please consult an endocrinologist who knows about such things - my doctor does phone consults also. You can find him at Home | Good Hormone Health . Hope you get your situation squared away!
 
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Kaur Singh

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Hi Kaur Singh,

First thing is to have the genetic blood work for the CAH - for years I thought I had it because I was diagnosed by the head of endocrinology at UCLA Medical Center, and recently another endocrinologist from that same medical school told me, "Oh, that guy thought everybody had that - your initial numbers are too low for it." So I had simple blood work and it said that I do not have it after all! How weird that I had to undergo a pituitary stimulation test, etc. when simple blood work would have been enough - but maybe the blood work has become advanced after all this time?

Anyway, please consult an endocrinologist who knows about such things - my doctor does phone consults also. You can find him at Home | Good Hormone Health . Hope you get your situation squared away!

Your ACTH stimulation test showed that you had problems with your hormones,
but the pre-screening test didn't?

Something akin to having blood glucose levels within range
and problems show up with a glucose challenge test?

There is something similar with homocysteine tests too -
within range in fasting test
but upon a methionine load, it shows that the person has trouble clearing it
etc


Thank you
 

belcanto

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Your ACTH stimulation test showed that you had problems with your hormones,
but the pre-screening test didn't?

Something akin to having blood glucose levels within range
and problems show up with a glucose challenge test?

There is something similar with homocysteine tests too -
within range in fasting test
but upon a methionine load, it shows that the person has trouble clearing it
etc


Thank you
It was a more recent test by a different endocrinologist; even the lab work that I got back said it was "genetic testing" for the 21-OH deficiency, which apparently wasn't there!
 
K

Kaur Singh

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It was a more recent test by a different endocrinologist; even the lab work that I got back said it was "genetic testing" for the 21-OH deficiency, which apparently wasn't there!
How odd...
There do seem to be plenty of women that have a clinical picture that fits with CAH but no defect.
(some that have hEDS)

Good luck sorting things out!
 

Law

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@chipdouglas Did you ever decide whether your issues were caused by CAH/NCAH? If so, how did you resolve them?

I recently tested my hormonal profile and had similar results - very high DHEA, though my 4-point cortisol is lower than yours. I also share some of your symptoms (cystic acne since teens, low energy). I posted about my hormonal profile here and seem to be treading a path similar to the one you've documented above: Sky-high DHEA and low cortisol
 

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