Adrenogenital Syndrome

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Contents

Name of Condition

Adrenogenital syndrome, also known as congenital adrenal hyperplasia.

Definition

Congenital adrenal hyperplasia is a term used to represent a group of inherited adrenal gland disorder. Patients with this condition produce an excess of the androgen hormone and insufficient amounts of cortisol and aldosterone hormones.

It is a condition that results in a lack of a specific enzyme necessary for the adrenal glands to make the necessary cortisol and aldosterone hormones within the body. In lacking these two hormones, the body instead produces an excess amount of androgen, a kind of male sex hormone. With this excess of androgen, early or inappropriate appearance of male characteristics are present.

1 in 10,000-80,000 are affected


Description, Signs and Symptoms

Newborn females with this condition usually have a swollen clitoris with the urethral opening located at the base, that is, they present signs of ambiguous genitalia which often appears more male than female. The internal features of the female reproductive tract are normal, however. These include the ovaries, uterus, and fallopian tubes. As the girl ages, various other features will begin to appear more masculine, such as a significant deepening of the voice, facial hair, and lack of menstruation during puberty.

While newborn males do not present any obvious changes, signs of the condition will become apparent well before puberty normally begins. A boy will become increasingly muscular, the penis will enlarge, pubic hairs will become apparent and his voice will deepen. These typical signs of puberty may occur as early as 2-3 years of age. The testes, at time of puberty, will be unusually small as well.

There are more severe cases of congenital adrenal hyperplasia that may occur, and can lead to adrenal crisis in a newborn due to an extreme loss of salt. Newborns in this case may develop severe symptoms shortly after birth such as vomiting, dehydration, significant changes in electrolyte levels, and cardiac arrhythmias. This severe form of the condition can quickly become fatal if not treated immediately.


Inheritance

Congenital adrenal hyperplasia is an autosomal recessive disorder, meaning that a child must inherit one copy of the defective gene from each parent who is a carrier. When two carrier parents have children, each child has a 25% chance of being affected with this condition.


Diagnosis

Diagnosis of congenital adrenal hyperplasia can be made through a series of tests and exams, including: blood and urine samples to examine hormone and electrolyte levels, X-rays to determine bone age, and genetic tests in confirming diagnosis of the condition.


Treatment and Management

In treating for Adrenogenital Syndrome, the aim is to bring hormone levels back to a normal range. This can be achieved by taking cortisol via medication every day. Additional doses are necessary during times of significant stress, severe illness, or surgery.

Reconstructive surgery is often performed on girls with masculine external genitalia to correct abnormal appearance, and is usually done as early as 1 to 3 months of age.

Parents of children with congenital adrenal hyperplasia are advised to educate themselves on the side effects of steroid therapy, as well as being aware that steroid medications cannot be stopped suddenly, or adrenal insufficiency will result.


Prognosis

Good health but short stature may result even with proper treatment. Males have normal fertility while females have lower fertility rates, as well as having a smaller opening of the vagina. Some possible complications associated with this condition include: testicular tumors in adult men, high blood pressure, and low blood sugar levels.


Resources

National Adrenal Diseases Foundation http://www.medhelp.org/nadf/

The MAGIC Foundation http://www.magicfoundation.org

Health Central http://www.healthcentral.com/ency/408/000411.html

Intersex Society of North America http://www.isna.org

NCBI Resources for Adrenogenital Syndrome http://www.ncbi.nlm.nih.gov/sites/ga?disorder=Adrenogenital%20Syndrome


References

Medline Plus http://www.nlm.nih.gov/medlineplus/ency/article/000411.htm

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