Can CAH be diagnosed prenatally?

CAH is diagnosed prenatally by chorionic villus sampling (CVS) at approximately 14 weeks of gestation, or later, at approximately 20 weeks, by amniocentesis (Figure 1).

How do you investigate the CAH?

Diagnosis of CAH in older children and young adults includes:

  1. Physical exam. If the doctor suspects CAH based on a physical exam and symptoms, the next step is to confirm the diagnosis with blood and urine tests.
  2. Blood and urine tests.
  3. Gene testing.
  4. Testing to determine a child’s sex.

What is hyperplasia in pregnancy?

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.

How common is non classic congenital adrenal hyperplasia?

of non-classical congenital adrenal hyperplasia is approximately 1 in 3 Ashkenazi Jews. In the wider population the carrier frequency is 1 in 100 people. The disease frequency in Ashkenazi Jews is approximately 1 in 27.

Do I have CAH or PCOS?

In women with hyperandrogonenism (hirsutism and/or acne) and oligomenorrhea the non-classic type of NC-CAH should be distinguished from polycystic ovary syndrome. PCOS is much more common than NC-CAH. The basal levels of 17-OHP may overlap, but ACTH stimulation testing can distinguish the two entities (53).

What is the test for CAH?

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.

Is 21-hydroxylase a deficiency?

21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia.