Cholesterol monooxygenase (side-chain cleaving) deficiency is characterized by problems in turning cholesterol into pregnenolone. Conversion of cholesterol to pregnenolone is the first step in a process called steroidogenesis. Steroidogenesis involves turning cholesterol into steroid hormones that have important roles in the body. This condition is only seen in females, and the main symptom is that these females have a difficult time keeping a healthy level of salt in their bodies.
Cholesterol monooxygenase deficiency is a genetic condition caused by a mutation (change) in the STAR gene. We inherit our genes in pairs, one from each parent typically. This condition is inherited in an autosomal recessive manner, meaning an individual must have two copies of the changed gene to have the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of this condition, each child has a one in four chance (25%) of having the disease.
This condition can be fatal if it is not treated in early infancy. Typically, a physical exam, urine and blood endocrine tests, and genetic tests can be used to diagnose this condition. Treatment may include hormone replacement therapy.
If you or a family member has been diagnosed with cholesterol monooxygenase deficiency, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Aug 29, 2018