Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare genetic condition that affects the adrenal glands — small organs that sit on top of the kidneys and produce essential hormones. In this disease, the CYP11A1 gene, which provides instructions for making an enzyme called cholesterol side-chain cleavage enzyme (also known as P450scc), does not work properly. This enzyme is the first step in making steroid hormones, including cortisol (the stress hormone) and aldosterone (which helps control salt and water balance). Because the deficiency is partial rather than complete, the adrenal glands can still produce some hormones, but not enough to meet the body's needs. This distinguishes it from complete CYP11A1 deficiency, which typically causes more severe problems including disorders of sex development in affected males. Key symptoms include fatigue, weakness, low blood pressure, salt cravings, weight loss, darkening of the skin, and episodes of adrenal crisis — a life-threatening drop in cortisol during illness or stress. Because the deficiency is partial, some patients may not show symptoms until later in childhood or even adulthood, when the body's demand for cortisol increases during illness or physical stress. Treatment centers on replacing the missing hormones with daily medications such as hydrocortisone (to replace cortisol) and sometimes fludrocortisone (to replace aldosterone). With proper hormone replacement and careful management during illness, most patients can lead relatively normal lives.

Bring these to your next appointment

• Q1.What is the correct daily dose of hydrocortisone for my child, and how should it be divided throughout the day?,When and how should I increase the medication dose during illness or stress (stress dosing)?,How do I use the emergency injectable hydrocortisone, and when should I use it?,Does my child also need fludrocortisone, or is cortisol replacement alone sufficient?,What signs of adrenal crisis should I watch for, and when should I go to the emergency room?,Should other family members be tested for this genetic condition?,Are there any activities or situations my child should avoid?

Common questions about Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Related conditions

Other rare diseases commonly researched alongside Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency.

• Familial glucocorticoid deficiency→
• X-linked adrenoleukodystrophy→