My baby’s name is Anthony.  He is one year old on Friday - 2 August.  The doctors must have thought you had salt wasting CAH(21 hydroxylase).  You should get tested again. The inital tests  - blood tests:

1. Testosterone, DHEA, Androstenedione

2. Adrenocorticotrophic hormone

3. Plasm Renin

4. Chem 8 - for sodium, sugar, and potassium

 

Urine Tests:

sodium (high is salt waster)

1-oxosteroids

Pregnanetriol

17-Ketosteroid

 

If you had CAH (especially salt wasting form) and you stopped taking the medications.  You should have felt very ill - weak and no energy. Weight loss; darken skin; craving for salt. And if you had the flu - or injury - you would have died from adrenal shock. ... unusually tired; nausea, vomiting; diarrhear; loss of appetie; stomach ache; ache in the low back. dizzy... salt waster - have low blood pressure; 11 deficiency - have high blood pressure; and 3-beta...there is a decreased synthesis of mineralocorticoids, glucocorticoids and incomplete sex hormone synthesis...decrease in testosterone.

Maybe you were not diagnosis correctly... there are many forms of adrenal problems. Maybe you have 11B-hydroxylase deficiency or 3-beta dehydrogenase) How is your blood pressure???????  What were your testosterone levels... salts levels... sugar levels... They might have been okay while on the mediations. What are they like with the medications. And more importantly how to you feel.

If the initial tests above are off .... then you need more testing - the urinary 17-oxosteroid and pregnanetriol are seldmod used now as more senstitive tests are available but it wouldn’t hurt as an initial test.  17OH-progesterone concentration and testosterone are a must TEST. And the chem 8 blood test.  The test should be done between 6am and 8 am because of hormonal surges.

If there is abnormalities in the tests (low cortisol high ACTH, high 18 OH-progesterone,  or 11 desoxycortisol...

To make sure you need the cortisol challenge test or cortrosyn stimulation test to assesses the ability of the adrenal cortex to respond to ACTH. They take blood before the test and then give out cosyntropin 250 mcg/m2 is injected by IV or IM; Wait 30  minute and take another blood samples.... wait another 30 minutes... take another sample  (three samples - one before and two after.

Also the Metyrapone (Metapirone) tests the entire hypothalamic/pituitary/adrenal axis.  This more accurate still.  Metyrapone blocks the cortisol pathway betweeb 11-desoxycortisol and cortisol.  Metyrapone is given orally in dose of 30 mg/kg (maximum 3 mg) at midnight with food. at 8:00 am the next morning blood specimens for 11-desoxycortisol, cortisol and ACTH levels are drawn.  A normal response to metyrapone is low cortisol(indicating a good "block") a high 11-desoxycortisol and high ACTH (indicates increased secretion of CRF-ACTH-adrenal steriods up to the block).  A normal metyrapone test rules out most, but not all forms of adrenal insufficiency.  Specially it does not rule out 11-hydroxylase deficiency since this block is created by the meyrapone. (11-hydroxylase deficiency can be diagnosed by low cortisol, high 11-desoxycortisol and high ACTH without metyrapone administration.

So you need the initial tests first... and then confirm the probable CAH with the other tests.

There are at least six different types of adrenal insufficiency

1. 21-hydroxylase (most common: 90 to 95%)

with salt wasting form and non-salt wasting form;

2. 11 beta hydroxylase (5% to 8%)

3. 3-beta hydroxysteroid dehydrogenase (5%)

4. 17 hydroxylase (less than 2%)

5. 20-hydroxylase (less than 2%)

6. 18-hydroxysteroid dehydrogenase (less than 2%)

Most doctors only know the 21-hydroxylase and MAYBE 17-hydroxylase.

And believe it or not some doctors confuse treatments!! Very scary. 

If you need help - contact CARES - www.caresfoundation.org or call toll free... 1-800-866-3737. 

or email me - rbertpreston@aol.com or call me 703-697-7357.  If you live in the Washington DC area - go to John Hopkins.  They are doing reseach with CAH adults.  Call them - they might have travel assistance (or CARES can help you with travel).

Find out what WAS wrong with you all those years!! There is no cure for CAH and sadly it can kill.  My daughter died of a CAH adrenal crisis.  I know how important it is to get a "good" doctor.

Let me know if I can help you!! I don’t want you to join my Jessica.