What Is Congenital Adrenal Hyperplasia?

Congenital Adrenal Hyperplasia (CAH) is an inherited genetic condition that affects the adrenal glands, which sit atop the kidneys and produce essential hormones including cortisol, aldosterone, and androgens. In people with CAH, the body lacks certain enzymes needed to produce these hormones, particularly cortisol. When cortisol production is blocked, the body responds by overproducing androgens (male sex hormones).

There are two main types of CAH: classic CAH, which is more severe and detected at birth, and non-classic CAH, which is milder and may not become apparent until childhood or early adulthood. Classic CAH is further divided into salt-wasting CAH (the most severe form) and simple virilizing CAH. Each type presents with different symptoms and requires specific management approaches.

Common Symptoms in Newborns and Infants

In newborns with classic CAH, symptoms typically appear shortly after birth. Female infants may be born with ambiguous genitalia due to exposure to high levels of androgens during fetal development. This might include an enlarged clitoris or fused labia, sometimes resembling male genitalia. Male infants generally have normal-appearing genitalia at birth but may show other symptoms.

Infants with salt-wasting CAH often experience potentially life-threatening symptoms within the first few weeks of life, including:

  • Poor feeding and weight gain
  • Vomiting and dehydration
  • Abnormal heart rhythms
  • Low blood pressure
  • Lethargy and weakness

These symptoms occur because the body cannot retain enough sodium and loses too much potassium, creating an electrolyte imbalance that requires immediate medical attention. Early screening and detection are crucial for preventing adrenal crises in affected infants.

Signs in Children and Adolescents

As children with CAH grow, additional symptoms may become apparent. Both boys and girls with untreated or inadequately treated CAH often experience accelerated growth during childhood, followed by premature puberty. This early growth spurt can lead to shorter adult height as growth plates close earlier than normal.

Children with CAH may show signs of virilization (development of male characteristics), including:

  • Advanced bone age (bones mature faster than normal)
  • Early appearance of pubic and underarm hair
  • Rapid growth in height
  • Acne
  • Deepening voice (in both boys and girls)

In girls, additional signs might include irregular menstrual periods or absence of menstruation when puberty should occur. Boys might experience enlargement of the penis but smaller than normal testes. These symptoms result from the hormonal imbalances characteristic of the condition.

Symptoms in Adults with Non-Classic CAH

Non-classic CAH (also called late-onset CAH) presents with milder symptoms that may not appear until late childhood, adolescence, or even adulthood. Women with non-classic CAH often experience symptoms related to excess androgen production, which can be misdiagnosed as polycystic ovary syndrome (PCOS).

Common symptoms in women with non-classic CAH include:

  • Hirsutism (excessive facial and body hair)
  • Acne
  • Irregular or absent menstrual periods
  • Infertility or reduced fertility
  • Male-pattern baldness

Men with non-classic CAH may have fewer obvious symptoms, which can include early beard growth, acne, and sometimes reduced fertility. Both men and women with non-classic CAH might experience accelerated growth in childhood followed by shorter adult height. Organizations like the CARES Foundation provide resources for adults living with various forms of CAH.

Treatment Options and Management

Management of CAH typically involves hormone replacement therapy to supplement the hormones the body cannot produce adequately and to suppress the overproduction of androgens. The National Adrenal Diseases Foundation offers comprehensive information about treatment approaches for adrenal conditions including CAH.

Treatment options generally include:

  • Glucocorticoid replacement (such as hydrocortisone) to replace missing cortisol
  • Mineralocorticoid replacement (such as fludrocortisone) for those with salt-wasting CAH
  • Salt supplements for infants with salt-wasting CAH
  • Surgical correction of genital abnormalities (in some cases)

Regular monitoring by an endocrinologist is essential for adjusting medication dosages as needed, especially during periods of illness, stress, or growth. The Pituitary Network Association provides additional resources on hormonal disorders and their management. Proper treatment helps prevent adrenal crises and allows individuals with CAH to lead normal, healthy lives.

Conclusion

Congenital Adrenal Hyperplasia presents with varying symptoms depending on its type and severity. Early recognition of these signs is crucial for timely intervention and management. With proper medical care, hormone replacement therapy, and regular monitoring, individuals with CAH can lead healthy, fulfilling lives. If you or your child show symptoms that might indicate CAH, consult with healthcare providers specializing in endocrinology for appropriate evaluation and treatment. Organizations like the Hormone Health Network and Endocrine Society offer valuable resources for families navigating this condition.

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This content was written by AI and reviewed by a human for quality and compliance.