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Doctor insights on: Congenital Adrenal Hyperplasia And Pregnancy

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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. Lynne Weixel
4 doctors shared insights

Pregnancy (Definition)

When your due date arrives, you will be more than ready to have your baby! Most women deliver the baby somewhere between 37 and 42 weeks. According to the American College of Obstetricians and Gynecologists, only 5% of babies arrive on the exact due date. Approximately 7% of babies are not delivered by 42 weeks, and when that happens, it is referred to ...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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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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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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Are there good alternative therapies for congenital adrenal hyperplasia?

Are there good alternative therapies for congenital adrenal hyperplasia?

Yes: There are many different types of cah. They cannot be cured - but the side effects of each - hyper or hypotension, hirsutism or virilization, etc can all be controlled by blocking the over or underactivity of the pathway steroids leading to cortisol, aldosterone and sex hormone production. ...Read more

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Congenital adrenal hyperplasia -non classical kind, what are some remedies to help with side effects of disease and medicine like steroids?

Congenital adrenal hyperplasia -non classical kind, what are some remedies to help with side effects of disease and medicine like steroids?

Adrenal hyperplasia: The commonest type of congenital adrenal hyperplasia is caused by deficiency of 21 hydroxylase, classical type presents at birth, but non classical may present later in early childhood or during puberty.It is difficult to answer all about it, but some salt depleted patients need to be on steroids and the patints need to be monotored for other defects, it should be trated by a pediatric endocrinologist. ...Read more

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I have Salt Wasting Congenital Adrenal Hyperplasia. During an server illness the dr's couldn't get blood so cut my ankles open. Why did they do this? Thanks

I have Salt Wasting Congenital Adrenal Hyperplasia. During an server illness the dr's couldn't get blood so cut my ankles open. Why did they do this? Thanks

IV access: It sounds like they had to have reliable access to a superficial vein to put a needle or thread a catheter into your ankle vein to replenish your body with fluids and electrolytes that it lost because of your illness. ...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 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

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