General Information for Families
Congenital adrenal hyperplasia refers to a group of inherited disorders relating to the adrenal glands, characterized by a deficiency in the hormones cortisol and aldosterone and an overproduction of androgen.
The different types of adrenogenital syndrome are inherited as autosomal recessive diseases and can affect both boys and girls. The defect involves a lack of an enzyme needed by the adrenal gland to make the major steroid hormones of the adrenal cortex: cortisol and aldosterone.
Without these hormones, steroids are 'diverted' to becoming androgens, a form of male sex hormones. This causes early (or inappropriate) appearance of male characteristics.
In a newborn girl with this disorder, the clitoris is enlarged, with the urethral opening at the base (ambiguous genitalia, often appearing more male than female). The internal structures of the reproductive tract (ovaries, uterus, and fallopian tubes) are normal. As she grows older, masculinization of some features takes place, such as deepening of the voice, the appearance of facial hair, and failure to menstruate at puberty.
In a newborn boy no obvious abnormality is present, but long before puberty normally occurs, the child becomes increasingly muscular, the penis enlarges, pubic hair appears, and the voice deepens. Affected males may appear to enter puberty as early as 2-3 years of age. At puberty, the testes are small.
Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to salt wasting. In this salt-losing form of congenital adrenal hyperplasia, newborns develop symptoms shortly after birth. These include vomiting, dehydration, electrolyte changes, and cardiac arrhythmias. Untreated, this condition can lead to death within 1-6 weeks after birth.
About 1 in 10,000 to 18,000 children are born with congenital adrenal hyperplasia.
Symptoms
In girls:
- Ambiguous genitalia
- Early appearance of pubic and axillary (armpit) hair
- Excessive hair growth
- Deep voice
- Abnormal menstrual periods
- Failure to menstruate
In boys:
- Early development of masculine characteristics:
- Well-developed musculature
- Enlarged penis
- Small testes
- Early appearance of pubic and axillary hair
Both boys and girls will be tall as children but significantly shorter than normal as adults.
Signs and Tests
Decreased aldosterone and cortisol in blood
- Elevated urinary 17-ketosteroids
- Normal or decreased urinary 17-hydroxycorticosteroids
- Elevated 17-OH progesterone in blood
- Elevated serum DHEA sulfate
- X-ray for bone age (demonstrates markedly advance bone age above chronological age)
- Abnormal salt levels in blood (serum electrolytes) and in urine
- Genetic testing is often helpful in diagnosing or confirming the disease and can be useful in the management of the condition.
Treatment
The goal of treatment is to return hormone levels to normal. This is achieved by daily administration of forms of cortisol: dexamethasone, fludrocortisone, or hydrocortisone. Additional doses of medicine are required during times of stress such as severe illness or surgery.
The gender of a baby with ambiguous genitalia is determined by examination of the chromosomes (karyotyping). Reconstructive surgery for girls with masculine external genitalia is usually performed between the ages of 1 and 3 months to correct the abnormal appearance.
Parents of children with this disorder need instruction on the side effects of steroid therapy. They should report signs of infection and stress to their health care provider because increases in medication may be required. In addition, steroid medications cannot be stopped suddenly or adrenal insufficiency will result.
[source: Medline Plus]
What is Congenital Adrenal Hyperplasia (hi-purr-play-she-uh)?
Congenital adrenal hyperplasia, or CAH for short, affects the way the body makes
chemicals called hormones. These hormones are like little messengers that tell the
body what to do. In children with CAH, the adrenal glands (2 walnut-sized glands
that sit on top of the kidneys) do not make enough cortisol (also known as the “stress”
hormone). Without enough cortisol, the body makes too much male hormone. This can
cause growth and development problems. Some children also have a more serious problem
called “saltwasting” crises. This happens when the body has trouble keeping the
right balance of salt.
What causes Congenital Adrenal Hyperplasia?
CAH is inherited when both parents pass an abnormal CAH gene to their child. This means both parents are carriers of CAH. Carriers do not experience any health problems related to CAH. When two carriers of CAH have children together, there is a 1 in
4 (25%) chance for each baby to have CAH.
How is Congenital Adrenal Hyperplasia detected?
Newborn screening is done on tiny samples of blood taken from the infant’s heel 24-48 hours after birth. After a positive newborn screen, testing at special labs must be done to know for sure if a baby has CAH.
What problems can Congenital Adrenal Hyperplasia cause?
CCAH is different for each child. Some female infants have an abnormality of their
genitals caused by too much male hormone. Male infants often look normal at birth.
If CAH is not treated, it can cause “salt-wasting” and electrolyte problems (keeping
the right balance of salts in the body), dehydration (not having enough fluid in
the body), heart problems, and even death. It is very important to follow the doctor’s instructions about caring for a child with CAH.
What is the treatment for Congenital Adrenal Hyperplasia?
CAH can be treated. People with CAH must take daily medication. The medicine replaces
the missing cortisol and sometimes other hormones that the body is also lacking.
The treatment is life-long. Some girls with genital problems may need surgery. For children who have CAH:
- The child should have a primary care doctor and a pediatric endocrinologist. These health professionals give the child good medical care and educate the family about CAH.
- Treatment for CAH is life-long, and a child with CAH should see a doctor regularly.
Source: Minnesota Newborn Screening Program
National and State Specific Family Resources
View National and State Specific Family Resources
Congenital Adrenal Hyperplasia (CAH) Prevalence by State
The Region 4 Newborn Screening Data, summarized annually, provides detailed data on newborn screening results within Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio and Wisconsin. It is provided here to: assist families and physicians in knowing the relative number of confirmed annual cases for the disorder within each state and how it compares to other states in the region. assist families and specialists across states in connecting with specialists who may have experience treating a specific rare disorder. It is important to note that ongoing developments in the sophistication of technology allows states to progressively increase the number of disorders they screen in their program.
| 2005 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 175659 | 85570 | 144509 | 124942 | 70934 | 71058 | 52222 | 724894 |
| Total Specimens: | 182799 | 107983 | 151193 | 133680 | 74887 | 73857 | 0 | 724399 |
| 2005 | 12 | 3 | 10 | 6 | 4 | 2 | 0 | 37 |
| 2004 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 177603 | 87942 | 142023 | 134103 | 66625 | 70579 | 50930 | 729805 |
| Total Specimens: | 183727 | 107852 | 151296 | 127572 | 68895 | 71791 | 53583 | 764716 |
| 2004 | 7 | 1 | 5 | 7 | 2 | 3 | 0 | 25 |
| 2003 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 182590 | 86382 | 151983 | 130937 | 70053 | 70157 | 55281 | 747383 |
| Total Specimens: | 185033 | 109133 | 152211 | 128970 | 73362 | 71095 | 53381 | 773185 |
| 2003 | 5 | 2 | 4 | 4 | 5 | 1 | 0 | 21 |
| 2002 Confirmed Cases | ||||||||
| State: | IL | IN | OH | MI | WI | MN | KY | TOTALS |
| Total Births: | 180622 | 84618 | 148720 | 129967 | 68560 | 68025 | 54233 | 734745 |
| Total Specimens: | 184033 | 109360 | 152561 | 127978 | 71634 | 67839 | 52775 | 766180 |
| 2002 | 9 | 3 | 0 | 11 | 1 | 5 | 0 | 29 |
