Top
10
Doctor insights on: Congenital Adrenal Hyperplasia 21 Hydroxylase Deficiency

Share
1

1
Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Maybe: Hydroxylase deficiency is actually a continuum, and there are many alleles. A workup is probably not worthwhile. Manage unwanted body hair with electrolysis or lasers -- you're doing yourself a favor. If your urinalysis (chemical, sediment), renal functions (BUN, creatinine) and concentrating ability (SG >1.020) while thirsty) are normal, I would not recommend further studies. ...Read more

Dr. Vered Lewy-Weiss
66 doctors shared insights

Congenital Adrenal Hyperplasia (Definition)

It is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol. The production of two other classes of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and ...Read more


2

2
Can my carrier status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain my high basal cortisol?

Can my carrier status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain my high basal cortisol?

No: Spot "basal cortisol" levels mean nothing except in context. They help rule some things in and some things out. The highest basal cortisol levels have been found in soldiers in the battlefield and medical students in exams. Ignore all "pop" sites relating to pituitary / adrenal disease and remember that reference ranges are set so that many healthies fall outside on either end. ...Read more

3

3
What is the definition or description of: congenital adrenal hyperplasia?

What is the definition or description of: congenital adrenal hyperplasia?

See below: It is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don't produce enough cortisol. The production of two other classes of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone). ...Read more

4

4
How do you prevent congenital adrenal hyperplasia?

How do you prevent congenital adrenal hyperplasia?

Genetic testing: Congenital adrenal hyprplasis is an inherited disorder. Genetic screening can detect persons with the abnormal gene. Prenatal diagnosis can be made. Please consult this site for more information. http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm. ...Read more

5

5
How to treat congenital adrenal hyperplasia quickly?

?Quickly?: The diagnosis implys a genetic abnormality that will last a lifetime.It can be managed over time with the aid of metabolic disease specialists working in conjunction with your local source of health care. Daily medication & scheduled followup tests and exams will gauge the progress. ...Read more

6

6
How to treat non-classical congenital adrenal hyperplasia?

How to treat non-classical congenital adrenal hyperplasia?

Male or Female?: This would depend on the age and sex of the patient in addition to the degree of severity. If cortisol response is normal and a male is affected, often times steroid suppression is stopped after puberty. This is more complicated in females who may otherwise suffer from irregular periods, hirsutism, recalcitrant acne. They may need treatment through adulthood. Please discuss with endocrinologist. ...Read more

7

7
Are there good alternative therapies for congenital adrenal hyperplasia?

Are there good alternative therapies for congenital adrenal hyperplasia?

Yes: There are many different types of cah. They cannot be cured - but the side effects of each - hyper or hypotension, hirsutism or virilization, etc can all be controlled by blocking the over or underactivity of the pathway steroids leading to cortisol, aldosterone and sex hormone production. ...Read more

See 1 more doctor answer
8

8
Congenital adrenal hyperplasia -non classical kind, what are some remedies to help with side effects of disease and medicine like steroids?

Congenital adrenal hyperplasia -non classical kind, what are some remedies to help with side effects of disease and medicine like steroids?

Adrenal hyperplasia: The commonest type of congenital adrenal hyperplasia is caused by deficiency of 21 hydroxylase, classical type presents at birth, but non classical may present later in early childhood or during puberty.It is difficult to answer all about it, but some salt depleted patients need to be on steroids and the patints need to be monotored for other defects, it should be trated by a pediatric endocrinologist. ...Read more

9

9
I have Salt Wasting Congenital Adrenal Hyperplasia. During an server illness the dr's couldn't get blood so cut my ankles open. Why did they do this? Thanks

I have Salt Wasting Congenital Adrenal Hyperplasia. During an server illness the dr's couldn't get blood so cut my ankles open. Why did they do this? Thanks

IV access: It sounds like they had to have reliable access to a superficial vein to put a needle or thread a catheter into your ankle vein to replenish your body with fluids and electrolytes that it lost because of your illness. ...Read more

See 1 more doctor answer
10

10
How alike are pcos and non-classical congenital adrenal hyperplasia?

Symptoms only: Pcos and nccah have pretty much the same symptoms; irregular cycles and symptoms of too much male hormone. Cah however is caused by a missing enzyme and pcos is usually a metabolic problem. ...Read more