Congenital adrenal hyperplasia
Alternative Names
Adrenogenital syndrome; 21-hydroxylase deficiencySymptoms
- 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
- Early appearance of pubic and armpit hair
Both boys and girls will be tall as children but significantly shorter than normal as adults.
Exams and Tests
- Low levels of aldosterone and cortisol
- High levels of urinary 17-ketosteroids
- Normal or low urinary 17-hydroxycorticosteroids
- High levels of 17-OH progesterone
- High levels of serum DHEA sulfate
- X-ray for bone age (demonstrates markedly older bones than what is normal for the person's actual age)
- Abnormal salt levels in blood (serum electrolytes) and urine
- Genetic tests can help diagnose or confirm the disease, and can be useful in the management of the condition.
This disease may also alter the results of the following tests:
- Pregnanediol
- Estriol - urine
- Estriol - serum
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