HIPERPLASIA ADRENAL KONGENITAL PDF

Congenital adrenal hyperplasia CAH is a group of hereditary disorders that affect the adrenal glands. The adrenal glands produce the hormones cortisol and aldosterone. CAH is caused by genetic defects that prevent these glands from producing these two hormones either entirely or at normal rates. Everyone has two of these glands, one on top of each kidney. It helps control blood sugar. Aldosterone helps the kidneys function and balance electrolytes.

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Parents most often find out that their baby has CAH from newborn screening. CAH occurs when the adrenal glands are unable to produce hormones normally, leading to a hormone imbalance. CAH can be life threatening if not properly treated. What causes CAH? CAH is caused by not having enough of an enzyme most commonly hydroxylase that the adrenal glands need to work right.

The adrenal glands are part of the endocrine system. In CAH, the adrenal glands make too little of certain hormones. These hormones are cortisol and aldosterone. But by replacing hormones through medical treatment, a child will be able to develop normally and be healthy. In OH CAH, when the adrenal glands try to make cortisol and aldosterone, they instead make more of other hormones: androgens.

Androgens are another group of hormones involved in CAH. Both males and females make androgens, but males make more. How is CAH inherited?

Parents can be carriers of the gene that causes CAH without being affected themselves. If both parents are carriers of the gene that leads to CAH, they can pass it to their child.

If both parents pass the gene to the child, the child will have CAH. This type of inheritance is called autosomal recessive.

How common is it? CAH occurs equally in boys and girls. Non-classic or late-onset CAH is one of the more common genetic conditions. It may affect one to five percent of people in a given community, varying by the racial and ethnic makeup. It is more common in certain ethnic groups.

Reviewed by David E. Sandberg, Ph. Michigan Medicine, E. Contact Us. The Michigan Medicine Web site does not provide specific medical advice and does not endorse any medical or professional service obtained through information provided on this site or any links to this site. Complete disclaimer and Privacy Statement. Search this site. What these big words mean: Congenital means present at birth.

Adrenal refers to the adrenal glands, located at the top of the kidneys. Hyperplasia is a medical word for an organ or tissue growing too large. When there is not enough of it, the adrenal hormones get out of balance. AboutKidsHealth offers a helpful, interactive explanation with pictures and animation of what happens with enzymes and adrenal hormones in CAH.

What are the different types of CAH? It can be life threatening if not treated properly. At the same time, the adrenal glands make too much androgen. It is a milder form of CAH and is not life threatening. The adrenal glands produce normal or nearly normal amounts of cortisol and aldosterone. But they also make too much androgen.

In late childhood or adulthood, signs of excess male hormone appear. The excess androgens can cause early puberty , and problems like the development of unwanted body and facial hair, severe acne, or menstrual problems. Hormone replacement can treat this type of CAH in both boys and girls. Some people with non-classic CAH may benefit from medical treatment for the symptoms of the condition, such as acne treatment. Contact Us The Michigan Medicine Web site does not provide specific medical advice and does not endorse any medical or professional service obtained through information provided on this site or any links to this site.

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Congenital Adrenal Hyperplasia

NCBI Bookshelf. Endotext [Internet]. Congenital adrenal hyperplasia CAH refers to a group of disorders that arise from defective steroidogenesis. In general, all forms of CAH are transmitted in autosomal recessive mode of inheritance as a monogenic disorder.

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Congenital adrenal hyperplasia

Aka: Congenital Adrenal Hyperplasia. These images are a random sampling from a Bing search on the term "Congenital Adrenal Hyperplasia. Search Bing for all related images. Started in , this collection now contains interlinked topic pages divided into a tree of 31 specialty books and chapters. Content is updated monthly with systematic literature reviews and conferences.

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Your Child

Parents most often find out that their baby has CAH from newborn screening. CAH occurs when the adrenal glands are unable to produce hormones normally, leading to a hormone imbalance. CAH can be life threatening if not properly treated. What causes CAH? CAH is caused by not having enough of an enzyme most commonly hydroxylase that the adrenal glands need to work right. The adrenal glands are part of the endocrine system. In CAH, the adrenal glands make too little of certain hormones.

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