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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
66 doctors shared insights

Congenital Adrenal Hyperplasia (Definition)

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


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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 long should congenital adrenal hyperplasia last?

How long should congenital adrenal hyperplasia last?

Forever: This is a lifelong genetic issue. Medication & monitoring can decrease the impact on one's life, but it is not like a pneumonia, it doesn't go away after treatment. ...Read more

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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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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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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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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 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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Can you tell me what is congenital adrenal hyperplasia in simple words?

Yes: These people have a gene that makes it hard to make the necessary hormone cortisol, and the molecules get shunted into producing masculinizing hormones instead. The adrenals are big. In mild cases, it simply produces extra body hair in women. In severe cases, a little girl's genitals are ambiguous from birth, or a little boy reaches puberty at a very early age. ...Read more

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