Doctor insights on:
Congenital Adrenal Hyperplasia Guidelines
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
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
Cong adrenal hyper:
Yes. see your physician. Wikipedia and uptodate.com are good reads for this.
There are several kinds of this as well. ...Read more
Virilization: In the classic form newborn girls will often have ambiguous looking genitalia because of intrauterine exposure to their own overproduction of androgens. Can't really see it in a newborn boy. In non-classical early pubic hair in both sexes can be presenting feature. As kids grow older other things may warrant checking like recalcitrant acne (both sexes) or irregular periods/hirsutism in girls. ...Read moreSee 1 more doctor answer
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
Not really: Addison's disease is adrenal cortical failure due to injury, ablation or autoimmune disorders of adrenal gland or pituitary gland under-production of acth occurring in all genders & ages. Cah occurs mostly in ashkenazi jews, occurs in women in early to mid-adulthood & results in overproduction of androgens (male hormones). These are different disorders. See: http://www.Nadf.Us/diseases/cah.Htm. ...Read more
Addison's disease: Your history says you have addison's disease (adrenal insufficiency), which is not the same as congenital adrenal hyperplasia. Addison's disease can definitely present with darkening of the skin. Other symptoms can be found here: http://www.Mayoclinic.Com/health/addisons-disease/ds00361/dsection=symptoms. ...Read more
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
Bilateral lung nodules,Atelectasis prior papilloma thyroid CA.Pituitary Adenoma,Chiari Malformation,FMD,enlarged common bile duct no stones. Genetic?
Maybe genetic: Probably should have genetic consult. Forinstance Chiari malformation, fibromuscular dysplasia, and thyroid cancer can be associated with neurofibromatosis. Lung nodules are non specific and can be from some infections but also metastatic disease sometimes from papillary thyroid cancer. You may want to consult a geneticist physician. ...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
Mri said adenoma now lymphocytic hypophysit due to hyperplasia? Have hypothyroidism, adrenal insuffic, abnormal fsh, thyroid nodls. What real diagnosi
It can be.: One cause of adrenal insufficiency, addison's disease, is an auto-immune disorder. The immune system mistakenly makes antibodies targeting one or more proteins in the adrenal cortex, and winds up destroying the adrenal cortex, so that the adrenals can no longer make cortisol, or other hormones. As is true for most auto-immune disorders, a tendency to develop addison's can run in families. ...Read moreSee 1 more doctor answer
Adrenal cortex: The adrenal cortex makes lots of hormones. Very important are cortisol and aldosterone which help maintain life and salt balance. Addison's disease is caused by adrenal cortex damage rendering it unable to make these hormones anymore, mostly autoimmune cause in us. Patients often have a bronzed look. Hydrocortisone replacement is a lifesaving necessity. Fludrocortisone may also become necessary. ...Read more
Tuberous sclerosis have a large percentage of which of the following tumors? 1-renal cell carcenoma 2-adenoma 3-angiomyolipoma 3-oncocytoma 4-sarcoma
What autoimmune or infiltrative diseases affect the pituitary gland? being worked up for pituitary hyperplasia and hyperprolactinemia. virgin. 22yo.
It varies: Persons with the most common form of congenital adrenal hyperplasia (cah) have a predisposition to make extra testosterone. For girls can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at birth. Some girls can also have "salt wasting". Girls can also have somewhat masculinized behaviors. Testosterone levels can be lowered by therapy. www.caresfoundation.org. ...Read more
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