Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands’ ability to produce certain hormones, particularly cortisol and aldosterone. Further, 95 % CAH cases are due to 21-Hydroxylase deficiency (21-OHD) which is responsible for the conversion of 17-Hydroxyprogesterone (17-OHP) to cortisol. If CAH is left undetected or poorly managed, it can lead to a range of serious health issues and complications, especially in infancy and childhood. Here are some of the potential consequences of untreated CAH:
Salt Wasting Crisis: In severe forms of CAH, such as classical or salt-wasting CAH, the adrenal glands cannot produce enough aldosterone, a hormone that helps regulate salt and fluid balance in the body. Without adequate aldosterone, affected individuals can experience a potentially life-threatening condition known as a salt-wasting crisis. This crisis can lead to severe dehydration, low blood pressure, electrolyte imbalances, and shock.
Growth Problems: Untreated CAH can result in inadequate growth and development in children. The hormonal imbalances caused by CAH can interfere with the normal growth process, leading to shorter stature and delayed puberty.
Virilization (Masculinization) in Females: One of the hallmark features of CAH in females is virilization, which means the development of male secondary sexual characteristics. This includes the enlargement of the clitoris, the deepening of the voice, and the development of facial and body hair. If left untreated, these changes can have significant psychological and social consequences for affected females.
Infertility: In females with CAH, irregular menstrual cycles and difficulty conceiving can occur due to hormonal imbalances. Proper treatment can help manage these issues and improve fertility prospects.
Adrenal Crisis: Even in less severe forms of CAH, individuals can be at risk of adrenal crisis, which is a sudden and severe worsening of symptoms due to inadequate cortisol production. Adrenal crisis can be triggered by illness, injury, or stress and requires immediate medical attention.
Bone Health: Long-term untreated CAH can lead to reduced bone density and an increased risk of fractures. This is due to imbalances in calcium and other minerals in the body, as well as the chronic use of corticosteroid medications used to manage CAH.
Mental Health: The psychological and emotional impact of CAH, especially when associated with growth issues, can affect an individual’s mental health and self-esteem. Early diagnosis and appropriate treatment can help mitigate these challenges.
How Newborn Screening Tests Can Help?
Newborn screening tests are essential for the early detection of various congenital conditions, including CAH. Timely diagnosis and treatment are crucial for managing CAH effectively and preventing complications. Here’s how newborn screening tests can detect CAH:
Blood Spot Test: Newborn screening for CAH typically involves a blood spot test, also known as a heel prick or Guthrie test. This test is usually performed between 24 and 48 hours after birth. A healthcare professional pricks the baby’s heel and collects a small amount of blood on a special filter paper and called as Dried Blood Spot (DBS).
Hormone Measurement: The DBS is then sent to a laboratory for analysis. In the case of CAH screening, the laboratory measures the concentration of 17-OHP in the blood. Elevated levels of 17-OHP can be indicative of CAH.
Multiple Samples: To increase the accuracy of the test and reduce the risk of false-positive results, newborn screening programs often use a two-tiered approach. If the initial blood spot test shows elevated 17-OHP levels, a second blood sample may be collected for confirmation. Also, LC-MS/MS-based screening can be used during the second-tier testing where multiple hormones are measured simultaneously to provide an accurate diagnosis.
Genetic Testing: In some cases, especially when there is a family history of CAH or other factors that increase the risk, genetic testing may be performed. This involves analyzing the baby’s DNA to identify specific genetic mutations associated with CAH.
Clinical Evaluation: Newborn screening results are not definitive for diagnosing CAH. If the screening test suggests a potential issue, further clinical evaluation is necessary. This may include a physical examination, additional blood tests, and consultation with a pediatric endocrinologist.
Treatment Initiation: If CAH is confirmed, treatment is typically initiated promptly. The primary goal of treatment is to replace the deficient hormones and restore hormonal balance in the body. This usually involves administering oral medications such as hydrocortisone and fludrocortisone. The dosage and treatment plan will be tailored to the specific type and severity of CAH.
Ongoing Monitoring: Children with CAH require ongoing medical supervision and monitoring. Regular check-ups and blood tests are necessary to adjust medication dosages as the child grows. Proper management of CAH can help prevent complications such as salt wasting, growth problems, and virilization (masculinization) of females with the condition.
Newborn screening for CAH is critical because early detection and treatment can significantly improve the long-term health and well-being of affected individuals. Without screening and treatment, CAH can lead to life-threatening salt imbalances, inadequate growth, and other serious health issues.