What is most often the underlying cause of congenital adrenal hyperplasia?

The most common cause of CAH is the lack of the enzyme known as 21-hydroxylase. CAH may sometimes be called 21-hydroxylase deficiency. There are other much rarer enzyme deficiencies that also cause CAH .

What causes congenital adrenal hyperplasia?

Congenital adrenal hyperplasia is an inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. The most common enzyme defect, 21-hydroxylase deficiency, leads to excess amounts of male hormones being produced by the adrenal glands.

How common is congenital adrenal hyperplasia?

The most common form of CAH, 21 hydroxylase deficiency, affects approximately 1:10,000 to 1:15,000 people in the United States and Europe. Among the Yupik Eskimos, the occurrence of the salt-wasting form of this disorder may be as high as 1 in 282 individuals. Other forms of CAH are much rarer.

What happens in congenital adrenal hyperplasia?

In congenital adrenal hyperplasia (CAH), a mutation (genetic change) causes the adrenal glands to make too little cortisol. In the most common type of CAH, called 21-hydroxylase deficiency, the adrenal glands also might not make aldosterone.

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Is CAH an autoimmune disease?

Background: Underlying causes of adrenal insufficiency include congenital adrenal hyperplasia (CAH) and autoimmune adrenocortical destruction leading to autoimmune Addison’s disease (AAD).

What is the life expectancy of someone with congenital adrenal hyperplasia?

Mean age of death was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls (P < . 001). Among patients with CAH, 23 (3.9%) had deceased compared with 942 (1.6%) of controls. The hazard ratio (and 95% confidence interval) of death was 2.3 (1.2–4.3) in CAH males and 3.5 (2.0–6.0) in CAH females.

What happens if CAH is left untreated?

Left untreated, the adrenal glands produce too much of chemicals called androgen, which produce male sex traits. Early detection and treatment can help children with CAH to have normal and healthy development. There are some other rare forms of CAH.

Is congenital adrenal hyperplasia a disability?

When Kayla’s parents spoke to a lawyer, they learned that her CAH probably qualified as a disability under the Americans with Disabilities Act because it substantially limits her endocrine function.

Does congenital adrenal hyperplasia cause weight gain?

The inability of the adrenal glands to produce these life essential hormones is the reason why newborns not receiving treatment get very sick with the salt-wasting form of CAH leading to dehydration, poor weight gain, failure to thrive, low blood sugar, shock, and lethargy.

Is congenital adrenal hyperplasia curable?

Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives. There are two major types of congenital adrenal hyperplasia: Classic CAH . This form is rarer and is usually detected in infancy.

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How is congenital adrenal hyperplasia diagnosed?

An ACTH stimulation test is used to diagnose congenital adrenal hyperplasia and determine the type your child has. Blood samples are taken before and after giving your child an injection of synthetic ACTH, or adrenocorticotropic hormone, which signals the adrenal glands to release the hormone cortisol.

How do you confirm CAH?

Tests used to diagnose CAH in fetuses include:

  1. Amniocentesis. This procedure involves using a needle to withdraw a sample of amniotic fluid from the womb and then examining the cells.
  2. Chorionic villus sampling. This test involves withdrawing cells from the placenta for examination.
  3. Maternal blood test.


Does congenital adrenal hyperplasia cause depression?

The lifetime prevalence of depression was 33.5% in CAH patients vs 26.1% in control patients, a prevalence ratio of 1.28 (95% CI 1.13–1.45, Table 3).

What is congenital adrenal hyperplasia what effects does it have on female fetuses?

Congenital adrenal hyperplasia (CAH) is a group of autosomal-recessive disorders caused by a reduced or absent enzymatic activity at one of the stages of adrenal steroid biosynthesis. Prenatal exposure to androgens leads to external genital masculinization of the affected female child.

What is congenital adrenal hyperplasia due to 21 hydroxylase deficiency?

Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency. 21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia and hyperkalemia.

What is congenital adrenal hyperplasia CYP21A2 related?

Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the body’s adrenal glands. … CAH occurs when the adrenal glands are unable to produce these hormones properly, resulting in a hormone imbalance. CAH, CYP21A2-related is caused by mutations in the CYP21A2 gene.

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