Primary adrenal insufficiency (PAI) is a potentially life‐threatening condition that requires
urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal …

CYP11A1, a member of the cytochrome P450 family, plays several key roles in the human
body. It catalyzes the first and rate-limiting step in steroidogenesis, converting cholesterol to …

Cortisol is central to several homeostatic mechanisms including the stress and immune
response. Adrenal insufficiency and impaired cortisol production leads to severe, potentially …

The adrenal cortex produces dozens of steroids having varying degrees of glucocorticoid,
mineralocorticoid, and androgenic activity. Cortisol, the principal glucocorticoid, and …

Context Although primary adrenal insufficiency (PAI) in children and young people is often
due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur …

CYP11A1, best known for its role in initiating steroid hormone synthesis from cholesterol,
also acts on vitamins D2 and D3. CYP11A1 hydroxylates the vitamin D3 side chain at C20 …

Hereditary adrenocorticotropin (ACTH) resistance syndromes encompass the genetically
heterogeneous isolated or Familial Glucocorticoid Deficiency (FGD) and the distinct clinical …

1 Department of Dermatology, University of Alabama at Birmingham, Birmingham, AL,
United States, 2 Pathology Laboratory Service, Veteran Administration Medical Center …

Background Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal
steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex …

Objective CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form
of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype …