Growth hormone deficiency disorders

Abstract

Growth hormone (GH) is a multifunctional hormone produced in the pituitary that promotes postnatal growth of skeletal and soft tissues through a variety of effects. In addition to promoting growth of tissues, GH also exerts a variety of other biological effects, including lactogenic, diabetogenic, lipolytic, and protein anabolic effects, as well as sodium and water retention. The frequency of GH deficiency has been estimated at 1/4000-1/10,000 in various studies. Estimates of the proportion of GH-deficient cases having an affected parent, sib, or child range from 3 to 30% in different studies. This occurrence of familial clustering suggests that a significant proportion of cases might have a genetic basis. This chapter discusses the genetics and molecular pathophysiol-ogy of familial isolated growth hormone deficiency and combined pituitary hormone deficiency. © 2006 Humana Press Inc.