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Disorders of the GH-IGF Axis

Disorders of the GH-IGF axis include a large heterogeneous group of conditions with distinct phenotypes. Each of the defects identified in this axis is responsible for a rare and specific condition that endocrinologists need to be familiar with. Traditionally, clinical and hormonal evaluations are the cornerstones of their diagnosis but in recent years, molecular genetic tests are becoming an important tool for the investigation of GH-IGF axis disorders. In this chapter, we will focus on genetic causes and highlight their main characteristics and the diagnostic approaches for each of them. The expansion of our knowledge in this field may lead to treatment based on the molecular defect.