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Congenital Adrenal Hyperplasia

Also known as Adrenogenital Syndrome, CAH can alter the body's sex characteristic.

Michael Bermant, MD
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hermaphroditeCongenital Adrenal Hyperplasia (CAH) is a family of genetic disorders. This condition affects the production of the corticosteriod cortisol (hydrocortisone) and aldosterone by the adrenal glands. Hydrocortisone is the stress fighting hormone made by the adrenal cortex. The Pituitary Gland, responding to the deficiency, makes more adrenocorticotropic hormone (ACTH). ACTH pushes the adrenal cortex to make more cortisone. Unfortunately it also results in the overproduction of some intermediary hormones which have testosterone and estrogen effects. Affecting both males and females, the body and brain are exposed to high levels of masculinizing and feminizing hormones starting while still in their mother's womb. The androgens cause a virilization of the developing body and for girls mean that the clitoris is enlarged and labia can be fused at birth enough to result in confusion of gender identity assignment. That is why ambiguous genitalia need to be properly evaluated at birth.

Congenital Adrenal Hyperplasia occurs in about 1 in 10,000 to 18,000 births. It is a real medical emergency for diagnosis and intervention. CAH can be treated with medication. When treated early at birth, the patient with congenital adrenal hyperplasia can lead a normal life of their genetic sex. Medications can deal with the enzyme deficiency and the pituitary will stop trying to overdrive the adrenal glands. The body still does not have a natural hormone axis to respond to stress. CAH patients should wear a medical alert bracelet so that appropriate treatment can be given at times of medical stress.

hermaphhermaphrodite symbolHowever, the changes that the body had undergone while under the influence of the abnormal hormones do not go away. How the brain may have been influenced by the additional hormones can be difficult to predict and still a subject of study. (See link section).

CAH is a recessive genetic disorder on an autosomal chromosome and not linked to the person's sex. Both men and women are equally affected. If both parents have this genetic defect, then their children will. DNA testing is available for diagnosis and to detect carriers.

picture untreated congenital adrenal hyperplasiapicture congenital adrenal hyperplasia backThis 35 year old patient was an undiagnosed Congenital Adrenal Hyperplasia before coming to Dr. Bermant to help with regrowth of breasts after another doctor's breast reduction. He has been living as a male.

Learn More About This Patient's Revision Surgery for Breast Recurrence and his CAH.


Photograph Adrenogenital Syndrome AdultPicture Adult Adrenogenital SyndromeHe has breasts that are still enlarging, a female body fat distribution, virilization of his body with male muscle pattern and a male hair distribution. His voice pitch was high for a male and low for a female. His genitalia were ambiguous at birth. After a work up that should have been done by his doctors at birth, he is a XX female whose body has been subject to massive male and female hormones his entire life.

When a genetic female has been living their life as a male, fixing the adrenal defect will stop the only source the body had for the testosterone. There are no testicles. To maintain a male body, such an individual would need testosterone replacement therapy as well.

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Listen to the pitch of the voice of this Adult XX Untreated CAH male.

Symptoms of Congenital Adrenal Hyperplasia are a function of the body being exposed to excessive androgen male hormones and feminizing hormones.

  • Masculinization of genitals: male-looking genitals at birth even for female newborns
    • Enlarged clitoris - appearing similar to a penis
    • Fused labia - often appearing similar to a scrotum
  • Deep Voice
  • Acne
  • Early appearance of pubic and armpit hair
  • Excessive muscle development for age
  • Tall as children but short as adults
  • Females
    • Ambiguous genitalia often looking more male than female
    • Masculine distribution of hair
    • Abnormal menstrual periods
    • Masculine muscle development
    • Pseudohermaphroditic females
  • Males
    • Premature development of male characteristics
    • Early development of penis
    • Enlarged penis
    • Early development of prostate
    • Small testicles
    • Well developed muscles
  • Other Adrenal Gland Issues:
    • Enlarged because they try to work harder to produce more hormone
    • Inability to conserve salt
    • Severe illness within days of birth due to loss of salt
      • Cardiac arrhythmia
      • Dehydration
      • Electrolyte changes
      • Vomiting
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This page last updated on: January 10, 2013

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