- 21 hydroxylase deficiency
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- CYP21 deficiency
On this page
- What are the signs and symptoms of 21-hydroxylase deficiency?
- What are the symptoms of classical salt wasting 21-hydroxylase-deficient congenital adrenal hyperplasia?
- What are the symptoms of simple virilizing 21-hydroxylase-deficient congenital adrenal hyperplasia?
- What are the symptoms of nonclassical 21-hydroxylase-deficient congenital adrenal hyperplasia?
The Human Phenotype Ontology provides the following list of signs and symptoms for 21-hydroxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
What are the symptoms of classical salt wasting 21-hydroxylase-deficient congenital adrenal hyperplasia?
A close look at the hormone levels in patients with this form of 21-hydroxylase deficiency reveals an increased level of testosterone and rennin, and reduced levels of cortisol and aldosterone. Levels of 17-hydroxyprogesterone is over 5,000 nmol/L.
A close look at hormone levels in patients with simple virilizing 21-hydroxylase deficiency reveal an increased level of testosterone, reduced level of cortisol, normal or increased level of renin, and normal levels of aldosterone. Levels of 17-Hydroxyprogesterone are 2500 to 5000 nmol/L.
People with nonclassical or late-onset 21-hydroxylase-deficient congenital adrenal hyperplasia have 20% to 50% of 21-Hydroxylase activity. They may present in childhood or adulthood with early pubic hair growth or with symptoms of polycystic ovary syndrome. In females symptoms may include excessive hair growth, absent periods, infertility, androgenic alopecia, masculinized genitalia, and acne. Height is likely to be normal.
A close look at the hormone levels in patients with the nonclassical type reveal a variably increased level of testosterone and normal levels of aldosterone, renin, and cortisol. Levels of 17-Hydroxyprogesterone are 500 to 2500 nmol/L.