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Late Onset Congenital Adrenal Hyperplasia

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irina00361
irina00361

I am 25 years old and  since 2 years I am suffering from acne, excessive facial hair and hair loss. I've had irregular periods my whole life. I would go months without it. For this reason I had an ACTH stimulation test. I have a few questions about my test results.

Cortisol: 85 ng / ml (Normal range: 50 - 250) 

after 30 min : 191 ng / ml 

after 60 min : 214 ng / ml 

DHEA-S : 294 μg / dl (Norm: 35 - 430) 

after  30 min: 270 μg / dl 

after  60 min: 262 μg / dl 

androstenedione: 2,8 ng / ml (Norm: 0,4 - 4,1 ) 

after  30 min: 3,0 ng / ml 

after 60 min: 3,4 ng / ml 

17-hydroxyprogesterone: 1,01 ng / ml (Norm : 0,1 - 0,8) 

after 30 min: 1,41 ng / ml 

after 60 min: 1,49 ng / ml 

17-OH-pregnenolone : 3,4 nmol / L ( Norm: < 10,9) 

after 30 min: 14,3 nmol /l 

after 60 min: 17,8 nmol/ l 

so my endocrinologist told me that i don't have congenital adrenal hyperplasia. but i don't understand how she can be so sure about it. for example why she didn't also test the 11-deoxycortisol? there is also a congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.  

and why was 17-hydroxyprogesterone too high in every hormon test i ever had? i feel really desperate because my endocrinologist doesn't want to do any further testing and i have to deal with my acne, excessive facial hair and hair loss alone. 10,9) ="" after="" 30="" min:="" 14,3="" nmol=""  ="" after="" 60="" min:="" 17,8="" nmol/="" l ="" so="" my="" endocrinologist="" told="" me="" that="" i="" don't="" have="" congenital="" adrenal="" hyperplasia.="" but="" i="" don't="" understand="" how="" she="" can="" be="" so="" sure="" about="" it.="" for="" example="" why="" she="" didn't="" also="" test="" the="" 11-deoxycortisol?="" there="" is="" also="" a="" congenital="" adrenal="" hyperplasia="" due="" to="" 11β-hydroxylase="" deficiency.=""  ="" and="" why="" was="" 17-hydroxyprogesterone="" too="" high="" in="" every="" hormon="" test="" i="" ever="" had?="" i="" feel="" really="" desperate="" because="" my="" endocrinologist="" doesn't="" want="" to="" do="" any="" further="" testing="" and="" i="" have="" to="" deal="" with="" my="" acne,="" excessive="" facial="" hair="" and="" hair="" loss="">

after 30 min: 14,3 nmol /l 

after 60 min: 17,8 nmol/ l 

so my endocrinologist told me that i don't have congenital adrenal hyperplasia. but i don't understand how she can be so sure about it. for example why she didn't also test the 11-deoxycortisol? there is also a congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.  

and why was 17-hydroxyprogesterone too high in every hormon test i ever had? i feel really desperate because my endocrinologist doesn't want to do any further testing and i have to deal with my acne, excessive facial hair and hair loss alone.>

1 like, 3 replies

3 Replies

  • Mrs.Nicks
    Mrs.Nicks irina00361

    Posted

    Hi irina00361

    Have you discussed the results and your concerns with your GP? Your Endocrinologist can't refuse you treatment/tests, they have a duty of care. Es

  • Mrs.Nicks
    Mrs.Nicks irina00361

    Posted

    Posted by accident before I finished!...

    ...Especially since you have had previous irregular results for hydroxyprogesterone. You must make them aware that this is affecting your quality of life.

    You have the right to request your GP to refer you again to an Endocrinologist. It may be worth also seeing a different Consultant and getting their input.

    This advise comes from having to fight my way through to a diagnoses also. So I feel your frustration! I regularly felt like I was stuck in a revolving door not getting anywhere and being passed around to different specialists constantly. I am 27 and have recently been diagnosed with Addison's Disease.

  • jennifer11507
    jennifer11507 irina00361

    Posted

    I started having strange symptoms around age 1q I'm 25 now. I understand your frustration. I kept telling my mom something was wrong and she would shrug it off until I pulled my pants down one day to make her look at my hair (awkward lol). I was lucky enough after being sent from doctor to doctor to get diagnosed at age 12 with 3 beta hydroxy steroid dehydrogenese. It's a very rare form of CAH. Ask you doctors to check your DHEA levels....it might not work for you, but it's worth a try. Also, I had terrible acne and was prescribed spironolactone. It not only helped to regulate my hormones, but I haven't had to deal with acne since I was twelve... good luck! And I'm here if you have any questions.
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