Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders

Serum and urinary steroid profiles are altered in hormone-producing adrenal adenomas, Cushing's or Conn's syndrome, or adrenocortical carcinoma. Definitive diagnosis of inherited congenital adrenal hyperplasia is usually accomplished by measuring the blood levels of adrenal hormones and precursor steroids. Neonatal diagnosis of congenital adrenal hyperplasia is complicated. Alternative methods such as gas chromatography/mass spectrometry or liquid chromatography/mass spectrometry have been used for the diagnosis of congenital adrenal hyperplasia. This review covers the current application of gas chromatography/mass spectrometry or liquid chromatography/mass spectrometry in the interpretation of steroid profiles in different clinical and diagnostic settings. In the future, mass spectrometry may provide more information to assist in the choice of routine DNA analysis.