Deficiency of steroid 11-beta-monooxygenase


Type of disease: Rare conditions

Deficiency of steroid 11-beta-monoyxgenase also known as adrenal hyperplasia 4 or adrenal hyperplasia hypertensive form, is a congenital (present at birth) disease that affects the adrenal glands. In adrenal hyperplasia 4, the adrenal glands, which are located on top of the kidneys, produce too many androgens (male sex hormones).

There are two forms of the disease: classic and non-classic. In the classic form, signs of puberty occur earlier, such as pubic hair, voice changes, and growth spurts. Early growth spurts cause individuals with adrenal hyperplasia 4 to be short as adults. Females with adrenal hyperplasia 4 also have ambiguous genitalia, meaning their genitals do not look strictly male or female. Some individuals also have high blood pressure. The non-classic form of adrenal hyperplasia 4 is less severe. Females will have female genitals, but they may have extra body hair or irregular periods. Typically, the only symptom for males is short height, and individuals with this form do not have high blood pressure. The classic form is much more common than the non-classic form.

Adrenal hyperplasia 4 is caused by mutations (changes) in the CYP11B1 gene. Adrenal hyperplasia 4 can be diagnosed during pregnancy by testing the amniotic fluid (fluid surrounding the baby) for high levels of tetrahydro-11-deoxycortisol. Blood tests can also be used to look at levels of different salts and hormones in the blood. Treatment usually includes hormone replacement therapy. If you or a family member has been diagnosed with adrenal hyperplasia 4, talk to your doctor about the most current treatment options. Support groups are also a good source of information.

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