What does congenital adrenal hyperplasia look like?

Teenage and adult females who have nonclassic CAH may have normal appearing genitals at birth, but later in life, they may experience: Irregular or absent menstrual periods. Masculine characteristics such as facial hair, excessive body hair and a deepening voice. Severe acne.

What is salt-wasting congenital adrenal hyperplasia?

Salt-wasting CAH is the most severe form of this disease. People living with salt-wasting CAH have adrenal glands that don’t produce enough aldosterone, a hormone that helps regulate sodium (salt) levels in the body. Low levels of aldosterone result in too much sodium being lost from the body in urine.

Can CAH be cured?

Right now, there is no cure for CAH, but there is treatment. Some people with mild CAH may not need to take medicine all the time. They may only need to take cortisol when they are sick.

What happens if Congenital adrenal hyperplasia is left untreated?

However, if the infant has untreated congenital adrenal hyperplasia, they will produce excessive levels of male hormones such as testosterone from their adrenal glands. This will result in rapid growth of both boys and girls, with the additional effect of virilisation (development of male characteristics) of girls.

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.

What are the signs and symptoms of congenital adrenal hyperplasia?

Symptoms of nonclassic CAH can include:

• Rapid growth in childhood and early teens but shorter height than both parents.
• Early signs of puberty.
• Acne.
• Irregular menstrual periods (females)
• Fertility problems (in about 10% to 15% of women)
• Excess facial or body hair in women.
• Male-pattern baldness (hair loss near the temples)

Is congenital adrenal hyperplasia a disability?

Adrenal Gland Disorders are listed in the Social Security Administration’s impairment listing manual (commonly called the “Blue Book”) as conditions that may qualify a person to receive Social Security Disability Insurance or Supplemental Security Income.

Does CAH shorten life expectancy?

the Endocrinology Advisor take: Patients with congenital adrenal hyperplasia (CAH) with 21-hydroxylase deficiency have increased mortality rates, according to a study published in The Journal of Clinical Endocrinology & Metabolism. More than 95% of all CAH patients have 21-hydroxylase deficiency.

Is CAH 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.

What Happens If CAH is not treated?

Does congenital adrenal hyperplasia cause weight gain?

Many people with CAH, women in particular, have a battle to avoid gaining weight. Mostly, weight gain in CAH is a side effect of treatment with hydrocortisone, prednisolone or dexamethasone and to a lesser extent, the oral contraceptive pill if used. Short stature and depression can also make weight gain more likely.