What is the most common cause of congenital adrenal hyperplasia?

What is the most common 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 is associated with 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.

Can you have children with congenital adrenal hyperplasia?

Women with classic CAH can conceive while on routine maintenance therapy, and it is estimated that 80% and 60% of women with simple-virilising and salt-wasting forms of CAH, respectively, are fertile. Most women who are compliant with maintenance therapy have ovulation rates as high as 40%.

How do you treat congenital adrenal hyperplasia?

Classic CAH is treated with steroids that replace the low hormones.

1. Infants and children usually take a form of cortisol called hydrocortisone.
2. Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol.

What causes Adrenogenital syndrome?

The adrenogenital syndrome (AGS) is a relatively common inherited metabolic disease, generally caused by a deficiency of the adrenocortical enzyme steroid 21-hydroxylase.

Why does congenital adrenal hyperplasia cause infertility?

In males, congenital adrenal hyperplasia due to 21 hydroxylase deficiency is associated to normal fertility or infertility caused by a hypogonadotrophic hypogonadism (HH) or gonadal damage caused by intratesticular adrenal remnants.

Can CAH cause gender dysphoria?

Congenital adrenal hyperplasia (CAH) is an inherited disorder in which adrenal glands produce excessive amount of androgens. Classical form causes prenatal genital masculinisation and gender dysphoria in nearly 5.2% and 12% respectively.

How do you get tested for 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 does Adrenal Fatigue feel like?

Symptoms said to be due to adrenal fatigue include tiredness, trouble falling asleep at night or waking up in the morning, salt and sugar craving, and needing stimulants like caffeine to get through the day. These symptoms are common and non-specific, meaning they can be found in many diseases.