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Doctor insights on: Congenital Adrenal Hyperplasia Guidelines

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Who has congenital adrenal hyperplasia?

Who has congenital adrenal hyperplasia?

Enzyme deficiency: Deficiency of 21 hydroxylase enzyme needed for synthesis of gluco- and mineralo-corticoids causes excessive production of sex hormones, mainly male sex hormones. The result is endocrine disturbance in both boys and girls and virilization in girls. ...Read more

Dr. Vered Lewy-Weiss
67 doctors shared insights

Congenital Adrenal Hyperplasia (Definition)

A collection of genetic conditions that limit the adrenal glands' ability to ...Read more


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What is congenital adrenal hyperplasia?

What is congenital adrenal hyperplasia?

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

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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

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

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

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Can congenital adrenal hyperplasia affect a persons period?

Can congenital adrenal hyperplasia affect a persons period?

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

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What does congenital adrenal hyperplasia cah look like?

What does  congenital adrenal hyperplasia cah look like?

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 more

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What sort of disease is congenital adrenal hyperplasia?

What sort of disease is congenital adrenal hyperplasia?

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 more

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Can late onset congenital hyperplasia cause addison's disease?

Can late onset congenital hyperplasia cause addison's disease?

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

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Can late onset congenital adrenal hyperplasia present itself with hyper pigmentation?

Can late onset congenital adrenal hyperplasia present itself with hyper pigmentation?

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

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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

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Bilateral lung nodules,Atelectasis prior papilloma thyroid CA.Pituitary Adenoma,Chiari Malformation,FMD,enlarged common bile duct no stones. Genetic?

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

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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

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Is adrenal insufficiency hereditary?

Is adrenal insufficiency hereditary?

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 more

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What is primary adrenal insufficiency (addisons disease)?

What is primary adrenal insufficiency (addisons disease)?

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

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What are symptoms of congenital adrenal hyperplasia in girls?

What are symptoms of congenital adrenal hyperplasia in girls?

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