Overview
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, which are responsible for producing important hormones such as cortisol, mineralocorticoids, and androgens. In people with CAH, a gene mutation leads to a lack of one of the enzymes needed to produce these hormones. There are two main types of CAH: classic, which is more severe and usually detected at birth or early infancy, and nonclassic, which is milder and may not be identified until childhood or early adulthood. Symptoms vary depending on the type and severity of the condition, but may include abnormalities in growth, puberty, and sexual development, as well as other health issues. Treatment typically involves hormone replacement therapy to manage symptoms and prevent long-term complications.
Understanding the disease
Symptoms
Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands. The symptoms of CAH depend on the specific type and severity of the disorder. Classic CAH:
- May be detected at birth or in early infancy
- Symptoms can include irregular genital development, such as atypical genitalia appearance (enlarged clitoris in females, partially closed labia resembling a scrotum)
- Excess androgen can result in short height and early puberty for both males and females
- Severe acne may occur
- Females may experience excess facial hair, excessive body hair, and a deepening voice
- Infants with classic CAH can experience a life-threatening adrenal crisis due to a lack of cortisol, aldosterone, or both. Nonclassic CAH:
- This form is milder and more common
- Symptoms may not be identified until childhood or early adulthood
- Excess androgen can result in early puberty, acne, and excessive body hair
- Symptoms can be variable and may not be as severe as in classic CAH It is important to note that the symptoms listed above may not apply to every individual with CAH, and some individuals may not experience any symptoms at all.
Risk Factors
The risk factors for developing congenital adrenal hyperplasia (CAH) include:
- Parents with CAH or being a carrier of the genetic change for the disorder.
- Being of Ashkenazi Jewish, Latino, Mediterranean, Yugoslav, or Yup'ik ancestry. These ethnic backgrounds have a higher incidence of CAH due to genetic mutations prevalent in these populations. It's important to note that there's regarding other specific risk factors for developing CAH.
Development
Congenital adrenal hyperplasia (CAH) develops due to a gene change (mutation) that results in a lack of one of the enzymes needed to make hormones in the adrenal glands. There are two major types of CAH:
- Classic CAH: This rarer, more-severe form is usually detected at birth or in early infancy.
- Nonclassic CAH: This form is milder and more common. It may not be identified until childhood or early adulthood. The specific type and severity of CAH depend on the particular gene mutation and the hormone deficiencies it causes.
Assessment and Diagnosis
Triage
You should see a doctor if congenital adrenal hyperplasia (CAH) is suspected, especially if there is a family history of the condition or if a newborn shows symptoms such as poor feeding, vomiting, or abnormal genitalia. Early diagnosis and treatment can help manage the symptoms and prevent long-term complications.
Diagnosis
To diagnose congenital adrenal hyperplasia (CAH), the following methods may be used:
- Prenatal testing: Amniocentesis or chorionic villus sampling can be used to identify CAH in fetuses who are at risk for the disorder.
- Newborn screening: In many countries, routine screening of all newborns for genetic 21-hydroxylase deficiency is recommended during the first few days of life. This test can identify the classic form of CAH but may not identify the nonclassic form.
- Blood and urine tests: These tests are performed on newborns, infants, children, and young adults to check for hormones produced by the adrenal glands at levels outside the standard ranges. They also examine the levels of electrolytes such as sodium.
- Genetic testing: Genetic testing may be necessary to diagnose CAH, particularly in cases where the condition is suspected but not confirmed through other tests. It is important to consult a healthcare provider for proper diagnosis and management of CAH.
Management and Treatment
Complications
Potential complications of congenital adrenal hyperplasia (CAH) include adrenal crisis, fertility problems, and atypical genitalia or excess androgen in both males and females. Adrenal crisis is a life-threatening medical emergency that can occur in people with classic CAH, characterized by very low levels of cortisol in the blood, leading to diarrhea, vomiting, dehydration, low blood sugar levels, seizures, and shock. People with either classic or nonclassic CAH may also experience fertility issues. Additionally, excess androgen hormones can result in short height and early puberty for both males and females, as well as facial hair, excessive body hair, and a deepening voice in females.
Treatment
Treatments for congenital adrenal hyperplasia typically involve hormone replacement therapy to address the hormone deficiencies caused by the genetic disorder. Hormone replacement may involve the use of oral medications, injections, or gels. The specific treatment plan will depend on the severity of the condition, the specific hormones affected, and the individual's age and overall health. It is essential to work closely with a healthcare professional to manage CAH effectively and address any potential complications.
Preparing for medical consultation
To prepare for an appointment for congenital adrenal hyperplasia (CAH), you should:
- Gather your child's medical records, including growth charts and any previous test results.
- Make a list of your child's symptoms, noting when they first appeared.
- Note if anyone in your family has been diagnosed with CAH or related conditions.
- Prepare any questions you have for the healthcare provider, such as inquiries about treatment options, possible side effects, or long-term outlook.
- Consider bringing a family member or friend for support and to help remember information discussed during the appointment.
- Talk to your child about the appointment, explaining the purpose and what to expect during the examination. Remember to check with the healthcare provider if there are any specific instructions or preparations your child needs to follow before the appointment, such as fasting for certain tests.