The molecular pathology of pituitary hormone deficiency and resistance

In this chapter, we have reviewed the fast-moving area of the molecular pathology of pituitary hormone deficiencies and resistance. Examples have been described affecting all levels of pituitary function, i.e. the releasing hormone, its receptor, the pituitary hormone and its receptor, and the development of the pituitary gland. Other examples in these genes, and in those in which no mutation has yet been found, will undoubtedly be discovered in the next few years, throwing light on the structural basis of the gene product's function and allowing a greater understanding of endocrine physiology and pathophysiology. The main reason for this rapid progress in knowledge is the recent technological advances in mutation detection, which bring this activity within the grasp of the majority of reasonably equipped laboratories. Technological advancement, however is not all that it takes to carry out this work. The conditions caused by genetic damage such as we have described are rare, and there is clearly a requirement for great awareness on the part of the clinical endocrinologist. Patients in whom it is suspected that mutations such as these may occur require careful clinical and biochemical work-up. Indeed, in many instances, careful thought has to go into deciding what the phenotype of a particular mutation might be. Thus, the requirement for close collaboration between clinical and molecular endocrinologists has to be the important message for the future in this area of research.