Doctor insights on:
Congenital Adrenal Hyperplasia 21 Hydroxylase Deficiency
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
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
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
Hormone imbalance: Deficiency of 21 hydroxylase enzyme results in reduced synthesis of gluco- and mineralo- corticoids and excess production of male sex hormones. There is not way to "fight" the disease, but it can be treated with glucocorticoids, e.g., predinisolone. The defect causes virilization in girls an pre-mature puberty in boys. ...Read more
CAH testing : State newborn screening measures 17-oh progesterone. If elevated, this could mean cah in the newborn. 21 hydroxylase deficiency causing elevation in 17- ohp is the most common cause of cah. With infants this is usually associated with salt wasting. Aldosterone & cortisol are low. Acth will be high given low cortisol. Girls usually have ambiguous genitalia. Peds endo cares for kids w/cah. ...Read moreSee 1 more doctor answer
Enzyme defeciency: This disease results from deficiency of an enzyme, 21 hydroxylase, that is essential for synthesis of adrenal hormones. Block in the synthesis of glucoroticoids causes excess production of male sex hormones. See this site for more information. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001448/. ...Read more
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
Missing enzyme: There are different types. They all involve a deficiency of an enzyme needed in cortisol production. Since the pituitary senses there isn't enough cortisol, it keeps trying to make the adrenals make cortisol. But because that enzyme is missing, the building blocks of cortisol build up. These substances get turned into androgens - male hormones - and cause abnormalities in sexual development. ...Read moreSee 2 more doctor answers
CAH: This is due to the lack of an enzyme needed for the adrenals to make cortisol and aldosterone. The body then uses the precursors to make androgen (male hormones) instead. Symptoms for girls: deep voice, abnormal menstruation, early appearance of pubic/armpit hairs, genitials looking both male and female...For boys: deep voice, enlarged penis, small testes, early appearance of pubic, armpit hair... ...Read moreSee 1 more doctor answer
Ever since the pediatrician diagnosed congenital adrenal hyperplasia in my daughter, I have been losing sleep. What does it mean?
Confirmed?? get info: The screen for cah in my state is occasionally a false positive. If the defect has been confirmed, most states will have a program where you have metabolic centers that specialize in educating & elaborating the meaning of this DX for you and your child.There are variations of this DX & the life impact & rx varies. Contact your dr & set up a concsultation with the best info source you can find. ...Read moreSee 1 more doctor answer
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