Congenital adrenal hyperplasia

Diagnosis

The diagnosis of congenital adrenal hyperplasia (CAH) varies depending on the type of CAH. For classic CAH, the diagnosis usually happens during the regular newborn screening, while nonclassic CAH are often detected during childhood, or later in life usually when one starts showing symptoms. 

• Prenatal testing: Pregnant women with one child already diagnosed with CAH may opt for prenatal genetic testing. A healthcare provider can perform CAH screening using procedures such as amniocentesis or chorionic villus sampling. 
  • Amniocentesis: During the procedure, extracting a sample of amniotic fluid from the womb with a needle and then analyzing the cells. 
  • Chorionic villus sampling: The procedure entails removing cells from the placenta for analysis. 

The confirmation of a CAH diagnosis involves conducting tests after the baby’s birth.

• Newborns and infants: For female infants displaying severe atypical genitalia, chromosome analysis can be conducted to determine their genetic sex, and a pelvic ultrasound can also be employed to detect the presence of female reproductive organs like the uterus and ovaries. 

Newborn screening detects the classic form of CAH but not the nonclassic variant. During the first few days of life, routine screening of all newborns for hereditary 21–hydroxylase deficiency is recommended. 

• Children and young adults: CAH diagnosis in children and adolescents includes:
  • Physical examination: To diagnose suspected CAH, the child’s blood pressure and heart rate may be checked. The healthcare provider may also need to assess all the existing symptoms.
  • Blood and urine tests: These tests measure electrolyte levels, which are minerals like sodium that help regulate the body’s water balance. Generally, these tests are requested to examine the levels of hormones from the adrenal glands to see if they are too high or too low. 
  • Genetic testing: A genetic testing helps to detect mutations in genes, chromosomes, or proteins. These mutations can indicate whether or not one has a genetic problem.  This may be required to confirm CAH diagnosis. 

Treatment

While a definitive cure for CAH is lacking, symptom relief can be achieved through medications and therapeutic interventions. 

In cases of classic CAH, the aim of treatment is to ensure proper growth and sexual maturation. For nonclassic CAH, individuals with mild symptoms might require low–dose medication, while those without symptoms might not need any treatment. The management of CAH can encompass medication usage, reconstructive surgery, and psychological assistance.

• Medications: CAH medications are administered daily. Additional drugs or larger doses may be required during periods of illness or extreme stress, such as surgery. The purpose of these medications is to treat CAH to minimize excess androgen production and replenish deficient hormones.

People with the classic CAH can successfully control the condition for the rest of their lives by using hormone replacement drugs. While nonclassic CAH patients may not require treatment or may just require low–dose corticosteroids.

Medications that may be prescribed include salt supplements, corticosteroids to replace cortisol, and mineralocorticoids to replace aldosterone and aid in salt retention and potassium elimination. 

Evaluating the medication’s efficacy involves following a set schedule for assessment:

• Physical examination: Regular health checks are necessary throughout one’s life. Growth and development, such as changes in height, weight, blood pressure, and bone growth require monitoring in children with CAH.
• Monitoring for side effects: Some medications, such as high and prolonged doses of steroid–type replacement medications, may have potential side effects. The healthcare provider will conduct regular monitoring to detect side effects like diminished bone density and growth issues associated with these drugs.
• Blood tests to check hormone levels: Children who have not yet entered puberty require enough cortisol to inhibit androgens and allow them to develop to a normal height. To eliminate undesired masculine traits in girls with CAH, androgens must be suppressed. Cortisol excess, on the other hand, can result in Cushing syndrome. In people with CAH, regular blood tests are required to ensure that hormone levels are regulated. 

Individuals with classic CAH must adhere to a lifelong daily medication regimen. Ceasing the medication intake will lead to the reappearance of symptoms. Wearing a medical identification badge could be benefitial for proper treatment.

• Reconstructive surgery: Surgery presents a choice for addressing ambiguous genitalia. It can be employed to enhance the appearance and functionality of the child’s genitals between two to six months following birth. In some instances, the surgery might be delayed for a number of years.

Generally, performing genital surgery is more feasible when a child is very young, but certain parents opt to delay the procedure until their child reaches an age where they can comprehend the associated risks and have a say in their gender assignment. Complications from surgery to fix ambiguous genitalia include infection, hemorrhage, scarring, among others.

During the procedure, the clitoris may be reduced in size and the vaginal aperture may be rebuilt. Females who have reconstructive genital surgery may require more aesthetic surgery in the future.

• Psychological support: Providing psychological support is crucial for promoting the emotional well–being and social adjustment of individuals, whether they are children or adults, living with CAH. With early detection and medication, one can lead a healthy, productive life with CAH. 
• Research: Administering synthetic corticosteroids during pregnancy that can pass through the placenta to reach the fetus is regarded as an experimental approach. Further research is being conducted to assess the long–term safety of synthetic corticosteroids and their impact on embryonic brain development.