Abstract
Disorders of the pituitary are an important cause of short stature and other morbidity in childhood. Numerous genetic disorders affect pituitary function by disrupting hormone synthesis and/or receptor function, by affecting the development of the pituitary and/or hypothalamus, or by causing neoplasia. Disorders affecting the growth hormone pathway, leading to either isolated growth hormone deficiency or combined pituitary hormone deficiencies, are most commonly encountered in clinical practice. Thus, the growth hormone pathway and its disorders serve as a useful model of pituitary disorders in general, and this chapter will focus extensively on disorders of growth hormone production and function.
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