Table 3.

When GC/MS is preferred technique in steroid analysis.

Clinical practice

1. First-pass investigation of challenging patients- an integrated picture of synthesis and metabolism obtained

2. More reliable diagnosis of metabolism versus synthesis disorders, e.g. AME syndrome, ACRD, 5α-reductase deficiency

3. Defining new metabolomes of biosynthetic and metabolic disorders

4. Less invasive sampling in pediatrics

5. Prenatal diagnosis of steroid biosynthetic disorders

Basic science applications

1. Study of developmentally related synthesis and metabolism changes. Example defining pregnancy “back-door” pathway to active androgens in ORD.

2. Mouse models of human disorders, defining the mouse metabolome and documenting changes in genetically altered animals

Doping in sports

1. Identification of previously unseen designer drugs and metabolites, e.g. tetrahydrogestrinone

2. Stable carbon isotope ratio measurements (in the form of GC/C/MS)