Congenital Adrenal Hyperplasia (CAH)
Congenital Adrenal Hyperplasia is a group of inherited conditions that affect the adrenal glands. The adrenal glands sit above the kidneys and produce several hormones including cortisol and aldosterone that are essential for life. The most common form of CAH is 21-hydroxylase deficiency resulting in a lack of cortisol and aldosterone production which is life threatening. There are both mild and severe forms of CAH. Newborn screening usually catches the severe forms; however, it may miss the milder forms of CAH.
Signs and Symptoms
Severe (Classic or Early Onset)
- Vomiting, Poor Feeding
- Electrolyte Imbalance (Low Sodium, High Potassium)
- Poor Growth
- In Girls-Masculinized Genitalia
Mild (Non-Classic or Late Onset)
- Early Pubic Hair, Underarm Hair or Acne
- Excessive Acne and Irregular Periods
- Possible Signs or Diagnosis of PCOS (Polycystic Ovarian Syndrome)
- Early Development of Pubic, Underarm Hair
- Enlarged Penis without Testicular Growth
- Early Facial Hair
In infants, blood tests are drawn to evaluate adrenal hormone levels, specifically cortisol (usually low) and 17 OH Progesterone (high in 21-hydroxylase deficiency) as well as electrolytes. Further testing includes an ACTH stimulation test and possibly genetic testing. If the child presents later in life, blood tests in addition to a bone age x-ray may be done to evaluate bone maturity.
Treatment involves replacing cortisol by taking daily hydrocortisone, usually 3 times per day. Children who are also known to be salt wasters (deficiency of aldosterone) are given fludrocortisone along with salt replacement in infants. Children will need to take extra steroids (hydrocortisone) in times of stress or illness due to adrenal insufficiency caused by CAH. Children who have abnormal genitalia will also need to be followed by a Pediatric Urologist for possible surgical intervention.
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Adrenal Insufficiency occurs when there is not an adequate production of steroids from the adrenal glands. This can be due to a condition involving the pituitary gland or the adrenal gland itself. Steroid hormones (cortisol and aldosterone) are responsible for helping the body handle stress as well as regulating blood pressure and electrolyte & water balance.
Signs and Symptoms
- Excessive Fatigue
- Weight Loss
- Poor Appetite
- Nausea, Vomiting, Abdominal Pain
- Darkening of skin
- Salt Craving
A blood test looking at ACTH levels as well as cortisol levels may be drawn first thing in the morning, usually around 8 am. This is usually accompanied by an ACTH stimulation test for further evaluation of the pituitary and adrenal gland response to cosyntropin, a synthetic form of ACTH. If there is a concern for Addison’s Disease, adrenal antibodies may be drawn as well.
Treatment involves replacing the steroid hormones that are not being adequately produced. Cortisol can be replaced through daily hydrocortisone or prednisone and aldosterone can be replaced by daily Fludrocortisone tablets. The patient and family will need to learn dosage of these medications in times of stress or illness as well.
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