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Signs and Symptoms
Symptoms associated with congenital adrenal hyperplasia (CAH) depend upon the type of enzyme deficiency and the amounts of cortisol, aldosterone, and androgens that are produced. Symptoms may vary over time and can worsen with illness and stress.
Those associated with the form of classic 21-hydroxylase deficiency CAH that causes excess loss of fluids and salt (“salt-wasting”) can lead to a life-threatening adrenal crisis.
Salt-wasting CAH signs and symptoms may include:
- Abnormal heart rhythm, rapid heart rate
- Confusion
- Dehydration
- High potassium (hyperkalemia)
- Irritability
- Low blood glucose (hypoglycemia)
- Low blood pressure
- Low sodium (hyponatremia)
- Vomiting
Females with classic 21-hydroxylase deficiency may have external sex organs that are not clearly male or female (ambiguous external genitalia) but normal reproductive organs (uterus, fallopian tubes, and ovaries).
Signs and symptoms associated with excess male hormones (androgens) in both males and females in childhood and early adolescence may include:
- Accelerated skeletal growth (tall during childhood but short as adults)
- Acne
- Deep voice
- Enlarged penis (males)
- Enlargement of clitoris (females)
- Excess hair on face and body (hirsutism) in females
- Infertility or decreased fertility
- Irregular menstruation (females)
- Excess muscle growth
- Early development of pubic and armpit hair
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Tests
Laboratory Tests
The goals with congenital adrenal hyperplasia (CAH) testing are to:- Screen all newborns for 21-hydroxylase deficiency
- Help confirm the condition in those with positive newborn screens
- Help diagnose the condition in those with symptoms
- Identify the carrier status of a person who has a family member with 21-hydroxylase deficiency
- Determine the chromosomal sex (XX or XY) of a newborn with genitals that are not clearly male or female (ambiguous genitalia)
- Monitor treatment for CAH and detect overtreatment
- Evaluate and monitor the health status of a person with an adrenal crisis
- Detect 21-hydroxylase deficiency during pregnancy (sometimes)
- Identify and/or rule out other types of CAH besides 21-hydroxlase deficiency (sometimes)
Testing may include:
Screening
- Newborn screening is not currently offered in the UK as part of the national newborn screening programme
- Prenatal testing with chorionic villus sampling or amniocentesis
Detect/Diagnose
- 17-OHP – concentrations may be greatly elevated with 21-hydroxylase deficiency
- Steroid profile on a spot urine specimen – this looks at the pattern of steroids in a urine specimen, and is a very sensitive method for detecting abnormal steroid production
- ACTH stimulation – measures the level of cortisol in a person’s blood before and after an injection of synthetic ACTH (Synacthen™). If the adrenal glands are functional, cortisol concentrations will rise in response to the ACTH stimulation; not performed frequently. In mild cases of CAH the 17-OHP may be normal most of the time but rise abnormally during this test.
- Additional testing may be performed when 17-OHP is elevated,, depending upon which deficiencies and accumulations of precursors are suspected; these may include several of the following:
- Androstenedione
- Testosterone
- 11-deoxycortisol
- Dehydroepiandrosterone sulfate (DHEAS)
- 17-hydroxypregnenolone
- Pregnenolone
- Aldosterone and renin – to determine if concentrations of these substances are normal
- Chromosome analysis (karyotyping) – to determine a baby’s sex by evaluating their chromosomes (XX (female) or XY (male))
- Genetic testing – performed to detect gene mutations; not usually needed for diagnosis but may be used for prenatal diagnosis of 21-hydroxylase deficiency and for detecting gene mutation(s) in family members to help determine carrier status; will detect the most common mutations. If a specific mutation has been identified in a family, testing should include that mutation.
Monitor treatment, every few months:
- 17-OHP in a blood spot or saliva specimen
- Androstenedione
- Testosterone
Health status, during illness, and to monitor
- Electrolytes (especially sodium and potassium)
- Aldosterone
- Glucose
- Urea and creatinine – to check kidney function
- Liver function tests– to check liver function
Non-Laboratory Tests
- Blood pressure
- Pelvic ultrasonography to evaluate internal reproductive organs in females
- Hand X-ray or bone-age study to evaluate rate of skeletal growth
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Treatment
Treatment of congenital adrenal hyperplasia (CAH) includes replacement of the substances that are not being adequately produced by the body because of the enzyme deficiency and suppression of excess androgen production. This may include:
- Glucocorticoid – a steroid such as hydrocortisone or prednisolone to replace cortisol and suppress ACTH secretion and excess androgen production
- Mineralocorticoid – to replace aldosterone if someone has a salt-wasting form of CAH; salt supplementation may also be recommended for some infants.
Doses of steroids must be adjusted to avoid overtreatment as this can cause symptoms associated with Cushing syndrome. People will frequently require additional amounts of steroids during periods of stress and illness.
An adrenal crisis can be life-threatening and is typically treated with intravenous (IV) injections of glucocorticoids and large volumes of intravenous saline solution with the sugar dextrose. This treatment usually brings rapid improvement.
Surgery is sometimes indicated to modify external sex organs. It may be performed on a young female and is also sometimes required as a young adult.
Certain symptoms, such as excess facial hair and acne, may be addressed with specific treatments, but these should be in addition to, not instead of, CAH treatments.
There are a range of other treatments that may also be prescribed, for example, to block the effects of androgens, control blood pressure, stimulate growth, suppress puberty, and slow bone growth. People should talk to their doctors and to specialists as needed to determine the right therapies for their child (or themselves) at different stages of their development and to learn more about CAH.
Congenital Adrenal Hyperplasia Symptoms and Causes
Also Known As: CAH, 21-hydroxylase Deficiency
About CAH