Disturbances of the steroidogenesis or altered peripheral metabolism of steroids may result in severe clinical manifestations. Therefore, prompt diagnosis and initiation of medical treatment are desirable. The diagnostics of disorders of steroid hormone production, metabolism, and action have been previously based on immunoassay tests. However, in a modern medical laboratory, due to low accuracy of immunoassays, this technique is continuously replaced by chromatographic separation methods coupled to mass spectrometric detection systems. In this review we present current advances in the diagnostics of adrenal gland disorders, focusing on the role of mass spectrometry in prenatal and newborn screening, and in the diagnostics of sexual maturation disorders.
Keywords: Adrenal insufficiency; Diagnostics; Hormonal metabolism; Mass spectrometry; Sexual maturation disorders; Steroid hormones; Steroidogenesis.