Does congenital adrenal hyperplasia run in families?

Does congenital adrenal hyperplasia run in families?

All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell .

What happens to a baby girl who is born with CAH condition?

Some types of CAH can cause a baby with female (XX) chromosomes to develop ambiguous (in-between) genitalia or genitals that appear male. Other types can cause a baby with male (XY) chromosomes to develop genitals that appear female.

Is CAH detected at birth?

Classic CAH is usually detected at birth through required newborn screening or when female babies have ambiguous genitalia. CAH may also be identified when male or female babies show signs of severe illness due to low levels of cortisol, aldosterone or both.

What does congenital adrenal hyperplasia ( CAH ) mean?

Congenital -present at birth Adrenal -involving the adrenal glands Hyperplasia -this word means that the adrenal glands are overgrown. In CAH, the child is born with overgrown adrenal glands. The adrenal glands of babies with CAH are unable to make enough cortisol, which is the principal adrenal gland hormone.

What is the treatment for congenital adrenal hyperplasia?

CAH is never “outgrown”; treatment is required for life. The treatment for CAH is by replacement with hormone medications. The amount of medication needed will be different for each child, and will need to be adjusted as the child grows. Two types of hormone medicines are used to correct the problems of CAH.

Can a girl with adrenal hyperplasia become a boy?

Girls with congenital adrenal hyperplasia may be born with external sex organs that appear more masculine than they should. If not treated, both boys and girls will develop early sexual characteristics, well before normal puberty should begin.

What are the causes of congenital lipoid adrenal hyperplasia?

17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones.

What do you need to know about congenital adrenal hyperplasia?

Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including:

Can a child with adrenal hyperplasia drop blood pressure?

Symptoms vary depending on the type of congenital adrenal hyperplasia your child has. About 75 percent of children with the classic type have the salt-wasting form of the condition, which can lead to a life-threatening drop in blood pressure.

What causes the adrenal glands to become too big?

Congenital Adrenal Hyperplasia in the Newborn2 Congenital adrenal hyperplasia, then, is an inherited disorder that affects the production of certain hormones and causes the adrenal glands to become too big (hyperplastic). the body can’t hold on to sodium and water. Hormones involved in CAH

When to start treatment for classic adrenal hyperplasia?

Newborns with classic CAH should start treatment very soon after birth to reduce the effects of CAH. Classic CAH is treated with steroids that replace the low hormones. Infants and children usually take a form of cortisol called hydrocortisone.