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Doctor insights on: Congenital Adrenal Hyperplasia In Adults

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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 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

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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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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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Could pediatric neuro-sarcoidosis cause pituitary dwarfism (hyposomatotropism) in children ?

Could pediatric neuro-sarcoidosis cause pituitary dwarfism (hyposomatotropism) in children ?

It could be a cause: Causes of hypopituitarism can directly affect the pituitary gland or indirectly through the hypothalamus, which in turn affects the pituitary gland. Causes of hypopituitarism, of which there are many, includes sarcoidosis - a rare inflammation of the lymph nodes and other tissues throughout the body. ...Read more

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Why is pituitary adenoma infratentorial in adult tumors but craniopharyngioma is supratentorial in childhood?

Why is pituitary adenoma infratentorial in adult tumors but craniopharyngioma is supratentorial in childhood?

Sella Turcica: The tentorium cerebelli separates the cerebellum from the cerebrum. Supratentorial means ABOVE the tentorium and Infratentorial means BELOW. The pituitary gland sits in a special area called the hypophyseal fossa or sella turcia which is technically neither. Craniopharyngioma and pituitary adenoma grow SUPRATENTORIALLY in almost all cases, but rarely invade the clivus into the posterior fossa. ...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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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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Are congenital cataracts in teens rare?

Are congenital cataracts in teens rare?

Yes: Congenital cataracts means that you are born with them. They can range from insignificant to severe. Now that rubella (german measles) is pretty rare these days thanks to the vaccine., one does not often encounter that type of congenital cataract any more. ...Read more

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Could my son be born with cah congenital adrenal hyperplasia?

Could my son be born with cah congenital adrenal hyperplasia?

Oh, now i know CAH: Previous answer, i thought it meant chronic active hepatitis. Yes, a girl or boy can be born with cong adrenal hyperplasia; this refers to a group of inherited disorders of the adrenal gland, where there is a lack of a hormone needed to make certain steroid hormones. Male sex characteristics may appear earlier than normal. Time for a pediatric endocrinologist, if there is any question of this. ...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 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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Do the symptoms of congenital adrenal hyperplasia differ by gender?

Yes: Persons with the most common form congenital adrenal hyperplasia (cah) have a predisposition to making extra testosterone. For girls this can manifest as genitalia that is "masculinized" before birth and therefore "ambiguous" at the time of birth. Girls can also have somewhat masculinized behaviors. The testosterone levels can be lowered by therapy. Boys do not have genital or behavioral issues. ...Read more

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What are the similarities of pcos and non-classical congenital adrenal hyperplasia?

Many similarities: Women with pcos or non-classical cah can have essentially identical symptoms: irregular periods, hirsutism, even virilization, infertility, acne. Both usually have features of metabolic syndrome/insulin resistance. Non-classical cah can have precocious puberty. The test to distinguish the two is a baseline and acth stimulated 17-oh progesterone. An endocrinologist is needed for this situation. ...Read more

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What are the symptoms of congenital adrenal hyperplasia?

What are the symptoms of congenital adrenal hyperplasia?

Classic or non?: Classic cah is diagnosed mostly on newborn screening. It results from a block in the synthesis of cortisol and usually also aldosterone. Females will often have ambiguous genitalia. Males don't look different. Permanent replacement with Hydrocortisone & Fludrocortisone (may not need past childhood) are needed for sustaining life and salt balance. Pediatric endocrinologists follow very closely. ...Read more

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Are congenital cataracts rare in teenagers?

Are congenital cataracts rare in teenagers?

Uncommon, not rare: I would say that its uncommon, but not rare. Its hard to measure as there are many cataracts that are mild and not detectable or visually significant, unless examined by an ophthalmologist. ...Read more

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