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Doctor insights on: Congenital Adrenal Hyperplasia

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Dr. Vered Lewy-Weiss
66 doctors shared insights

Congenital Adrenal Hyperplasia (Overview)

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).


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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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Dr. Vered Lewy-Weiss
66 doctors shared insights

Congenital Adrenal Hyperplasia (Overview)

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).


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What symptoms does someone with congenital adrenal hyperplasia have?

What symptoms does someone with congenital adrenal hyperplasia have?

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 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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Ever since the pediatrician diagnosed congenital adrenal hyperplasia in my daughter, I have been losing sleep. What does it mean?

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 more

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What are the tests for congenital adrenal hyperplasia?

What are the tests for congenital adrenal hyperplasia?

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 more

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I take 2mg Prednisolone am can I reduce this to 1mg am? I have congenital adrenal hyperplasia. I used to take 2mg on 2mg am

I take 2mg Prednisolone am can I reduce this to 1mg am?  I have congenital adrenal hyperplasia. I used to take 2mg on 2mg am

Ask your doctor: Do not adjust your dose of Prednisolone without discussing it with your doctor. The effects of lowering the medication too quickly to making your levels too low can make you very sick. ...Read more

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Is it possible that having congenital adrenal hyperplasia (cah) also cause mental anxiety/panic attacks?

Is it possible that having congenital adrenal hyperplasia (cah) also cause mental anxiety/panic attacks?

Yes: See the report: www.Neuroendocrinology.Org/pdf/...Adrenal%20;%20anxiety.Pdf brief reports late-onset congenital adrenal hyperplasia: a treatable cause of anxiety alan r. Jacobs, phyllis b. Edelheit, anton e. Coleman, and andrew g. Herzog. ...Read more

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What does it mean when congenital adrenal hyperplasia found in newborn?

What does it mean when congenital adrenal hyperplasia found in newborn?

CAH: Most common is 21 hydroxylase deficiency. Females born with it usually have ambiguous genitalia because a block in adrenal hormone synthesis causes an androgen buildup. Can't tell by looking at a boy. State newborn screening should pick it up right away. Medical emergency to identify as medication is necessary to replace cortisol and aldosterone within a couple of days after birth else crisis. ...Read more

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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

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What is the treatment for congenital adrenal hyperplasia?

What is the treatment for congenital adrenal hyperplasia?

TREATMENT: Continuous IV infusion of hydrocortisone, maintenance with oral Hydrocortisone and affected females will have surgical reconstruction of the genitals. ...Read more