Congenital Adrenal Hyperplasia

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CAH? Help needed with diagnosis!
Jul. 18th, 2007   9:10am

Dear all,

 

I need your help with a diagnosis. I am a 21 year old male. When I was 14 the enjoyment that I derived from life dropped away sharply and I began to experience sexual difficulties (still high libido, just not turned on very much… its difficult to describe, but is accompanied by weaker erections). I was six foot 2 at 14 and have remained this height (I was very tall early and have remained comparatively quite tall without growing since the age of 14). I became very thin, at one point dropping down to 64 kilograms. I used to be extremely sporty and full of energy etc, but stopped playing sport, stopped doing the things that I really enjoyed, which included socialising and reading mainly. I felt and do feel very stressed most of the time, which I think is partly traceable to the sexual difficulties and partly attributable to my general malaise. I find that I cannot concentrate for long periods of time and have trouble being interested in anything much. This all sounds much worse than it looks to the people that know me, I'm still acting and want to pursue a career in acting, but am struggling on a day to day basis with the problems I have mentioned.

 

I have been chasing a medical diagnoses for many years, and after receiving the most cursory of medical examinations from men's health specialists I was sent off to receive psychiatric help. I finally liberated myself from these people after a couple of years and basically told my parents that my situation had become so bad that unless a medical explanation was discovered I could see no point in continuing to live. Which kick started a medical investigation which (accidentally) turned up a high progesterone level, which led to the discovery of a high 17 hydroxy progesterone result and even higher 17 hydroxy pregnenolone level. It has also been remarked that I have a low Sex Hormone Binding Globulin level. And I have low levels of FSH. I'll list the details below.

 

I saw many endocrinologists simultaneously as there seemed to be no definitive diagnosis on the horizon, and was told variously that there was nothing wrong, that I had a clear cut case of NCCAH, that I had a very unorthodox case of NCCAH and most interestingly, that I had insulin resistance. I have noticed that I am very sensitive to sugar and my mood drastically improves for a short period if I drink something like coca-cola or have an apple, but then falls away again shortly afterwards. I had a sugar response test performed and my sugar levels actually went down after consuming a sugary drink. They usually sit at the lower end of normal, and dropped into abnormal ranges after the consumption of sugar. An over active insulin response? Perhaps insulin hypersensitivity? Does such a thing exist?

 

I also have problems with allergies. I have always been very allergic to animals and grass, but  developed intolerances to both dairy and Yeast at about the time I began to notice things going wrong. When I consume these things I feel very ill and sleepy, and am almost knocked out.  Can this be related to the things mentioned above? Or is it a piece to a separate puzzle? I have a strong feeling that they are related.

 

I tried taking dexamethosone for a short period but found that it gave me heart tremors and affected my mood negatively. I have since started taking Cortate (simple cortisol) 3 times a day at 7.5 mg a dose. I have gained about 5 kilos of muscle (which I really needed) and began at one point to feel less anxious and more able to focus and think clearly. This benefit, however, seems to have evaporated.

 

Blood test results-

 

Glucose tolerance test:

Dose given: 75g glucose.

 

                                                Glucose level                            Insulin

At 0 mins                                  4.4 mmol/L                               12.6 mU/L

At 60 mins (after taking sugar) 3.9 mmol/L                                31.9 mU/L

At 120 mins                              3.2 mmol/L                               7.5 mU/L

 

 

Short Sinactin test:

10:15               10:45               11:15

 

Serum progesterone      3.0 H               4.9 H               5.4 H               (.9 - 2.9)

17–OH progesterone    8.2                   9.0                   11.7                 (1 - 10)

 

Cortisol levels fall in normal range

 

Resting progesterone levels:            6.4 nmol/L                   (male .5- 1.3)

Resting 17 OH prog:                         9.6 nmol/L                   (0 – 6.0)

Androstenedione                      6.5 nmol/L                    (1.7 – 8.0)

DHEAS                                   16.4 umol/L                 (2.2 – 15.2)

FSH                                         1.7 U/L                        (male 1.0 – 9.2)

LH                                           4.5 U/L                        (2.0 – 6.0)

Testosterone                             22.1 nmol/L                  (8. – 38)

Free testosterone                      52.1 pmol/L                 (43 – 138)

 

Free androgen index –                          142 % (ref range: 20-130)

Sex Hormone binding Globulin -                       14 nmol/L (10-50)

 

If anyone can help to explain my lack of sexual function, extreme and persistent anxiety, loss of general enjoyment, sugar related problems and allergy problems I would appreciate it very very much.

 

Thank you so much for reading this far,

 

O. in Sydney.

O in Sydney




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