Once again, another re-post. It does get a bit technical, but still interesting:
So, when I left off, I had just figured out that I had an rare genetic disease. CAH is an autosomal recessive disorder. In layman's terms, both men and women can have it, and both of my parents had to have the gene that causes it.
Medically, it is fairly simple to understand. My body does not manufacture enough of the enzymes needed in the hormone conversion process. First some basic biology:
The endocrine system is a complex collection of hormone-producing glands that control basic body functions such as metabolism, growth and sexual development. The endocrine glands consist of: pituitary; pineal; thyroid and parathyroids; adrenals; pancreas; thymus; testes (male); and ovaries (female).
Hormones are the chemical signaling molecules produced by the endocrine glands and secreted directly into the bloodstream. They travel through the blood to distant tissues and organs, where they can bind to specific cell sites called receptors. By binding to receptors, hormones trigger various responses in the tissues containing the receptors.
Does this make sense? Hormones are control signals that tell your body what to do when.
Picture of the Adrenal Glands
The adrenal glands, as mentioned, are part of the endocrine system. They have a couple of different duties in the body:
The adrenal glands are a pair of small organs, each about the size of a walnut, located on top of the kidneys just below the ribs in the back. They produce various hormones, or chemical messengers, which are released into the bloodstream. The inner core (medulla) of the adrenal gland makes adrenalin and is not affected in CAH. The outer portion (cortex) normally makes three different products: cortisol (hydrocortisone), aldosterone (salt-retaining hormone), and androgens (male-type hormones)
Now, in my case, my cortisol and aldosterone are fine. This is good, because those two hormones can really make life interesting if they are off. My problem is with my androgen production.
Androgen: A steroid hormone, such as testosterone or androsterone, that controls the development and maintenance of masculine characteristics. Also called androgenic hormone.
This is where it gets tricky. I may get this completely wrong, so bear with me. My endocrinologist told me the breakdown was Cholesterol -> Pregnenolone -> 17-OH-pregnenolone -> DHEA. My problem occurs in the pathway between 17-OH-pregnenolone and DHEA. My DHEAs levels are high. DHEA is what becomes Testosterone.
Unfortunately, ACTH signals the entire adrenal gland to work harder, not just the part that makes cortisol. The faulty enzyme causes a bottleneck in the chemical assembly line that makes cortisol, resulting in a piling up of "raw products" for making the final adrenal hormones. These substances spill over into other production lines which do not use the faulty enzyme: the production lines for androgens (male hormones). The pituitary ACTH control (which senses low cortisol, but is insensitive to too much male hormone) continues to make ACTH. The stimulated adrenal cannot make cortisol, but continues to make too much male hormone.
Now do you see why it gets complicated? Androgens do all kinds of interesting things to the female body. Symptomology of this milder form of CAH can include:
Both males and females with NCAH may show the following:
- Premature development of body hair (pubic and underarm);
- Body odor (young children’s perspiration normally has no odor);
- Early, rapid growth spurt, but ultimately short stature as adult (abnormal bone aging);
- Oily hair and skin;
- Severe acne;
- Anxiety, depression, mood swings, migraines;
In females, symptoms most frequently become apparent shortly after the onset of menses and may include the following (as well as those symptoms mentioned above):
- Early age of first menstrual period;
- Menstrual irregularities;
- Baldness, especially at the temples (male pattern baldness);
- Excessive hair growth; facial hair on chin and upper lip may be thick, coarse, and dark;
- Previous diagnosis or symptoms of Polycystic Ovarian Syndrome (PCOS).
I have had quite a few of these symptoms. My endocrinologist was very surprised I had children at all, although I also had 5 miscarriages along the way.
To be continued...
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