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Congenital Adrenal Hyperplasia - Congenital Adrenal Hyperplasia Symptom, Cause, Treatment
CAH is a genetic defect of the adrenal glands. Congenital adrenal hyperplasia refers to a group of inherited adrenal gland disorders. People with this condition do no produce enough of the hormones cortisol and aldosterone, and produce too much of androgen. The term congenital adrenal hyperplasia encompasses several autosomal recessive disorders that have in common complete or partial deficiency of an enzyme involved in cortisol and/or aldosterone synthesis. A person with CAH will not be able to produce several vital hormones known as corticosteriods. Clinical manifestations of the disease are related to the degree of cortisol deficiency, aldosterone deficiency, or deficiency of both. It is an inherited condition that affects approximately 1 in 10,000 people in the United Kingdom.
Symptoms of Congenital Adrenal Hyperplasia
Both boys and girls will be tall as children but significantly shorter than normal as adults.
- In girls:
- Ambiguous genitalia
- Early appearance of pubic and armpit hair
- Excessive hair growth
- Deep voice
- Abnormal menstrual periods
- Failure to menstruate
- In boys:
- Early development of masculine characteristics
- Well-developed musculature
- Enlarged penis
- Small testes
Causes of Congenital Adrenal Hyperplasia
The defects that cause congenital adrenal hyperplasia are autosomal recessive disorders due to deficient activity of a protein involved in cortisol synthesis, aldosterone synthesis, or both.Congenital adrenal hyperplasia can affect both boys and girls. People with congenital adrenal hyperplasia lack of an enzyme needed by the adrenal gland to make the hormones cortisol and aldosterone. Newborn girls with this disorder have a swollen clitoris with the urethral opening at the base (ambiguous genitalia, often appearing more male than female). The internal structures of the female reproductive tract (ovaries, uterus, and fallopian tubes) are normal. As the female grows older, some features start to appear male, such as deepening of the voice, facial hair, and failure to menstruate at puberty.
Treatment of Congenital Adrenal Hyperplasia
The goal of treatment is to return hormone levels to normal. CAH is treated with hormone replacement, replacing one or both of the hormones missing, generally with Cortef and Florinef. The treatment are below listed
- After the patient's condition is stabilized, treat all patients who have adrenal hyperplasia with long-term glucocorticoid or aldosterone replacement (or both), depending on what enzyme is involved and on whether cortisol and/or aldosterone synthesis is affected.
- Another approach currently under investigation is the combined use of glucocorticoid (to suppress ACTH and adrenal androgen production), mineralocorticoid (to reduce angiotensin II concentrations), aromatase inhibitor (to slow skeletal maturation), and flutamide (an androgen blocker to reduce virilization).
- Some patients develop precocious puberty, which further compromises adult height. Suppression of puberty with long-acting gonadotropin-releasing hormone (GnRH) agonists while simultaneously stimulating growth with growth hormone may partially improve the patient's height.
- Bilateral adrenalectomies have been suggested in the management of virilizing forms of adrenal hyperplasia in order to prevent further virilization and advancement of skeletal maturation. This approach is experimental and should be considered only in the context of a controlled study.
- The traditional approach to the female patient with ambiguous genitalia due to adrenal hyperplasia is clitoral recession early in life followed by vaginoplasty after puberty.
- Some female infants with adrenal hyperplasia have only mild virilization and may not require corrective surgery if they receive adequate medical therapy to prevent further virilization.
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