Diagnosis and treatment of children with growth hormone deficiency

Growth hormone deficiency embraces a heterogeneous group of disorders with multiple aetiologies. The biggest single division is between those children whose growth hormone deficiency is due to a structural lesion and those where it is not. In both cases other pituitary hormones may, or may not, be affected, although when a structural lesion is present multiple pituitary hormone deficiency is the rule rather than the exception. In the absence of structural lesions the pathogenesis of the condition in still largely obscure, although some mechanisms, such as cranial irradiation, are now well recognized. Birth trauma is also now a strong candidate as a predisposing factor. The prevalence of growth hormone deficiency is still uncertain, but is probably about 1 in 4000 live births. The clinical features of growth hormone deficiency are usually fairly clear, with short stature, low growth velocity, excess subcutaneous fat and delayed skeletal maturation being the principal clinical features. Laboratory investigation still largely depends upon the assessment of pituitary growth hormone secretion in response to a variety of provocation tests and is still in many ways unsatisfactory. Treatment consists of parenteral growth hormone replacement using material of human cadaveric origin. Non-primate growth hormones are of no value. Other endocrine abnormalities, when present, are treated appropriately, and with early diagnosis and optimal therapy the height prognosis is reasonably good. The principal aims for the future must be to ensure supplies of therapeutic growth hormone, improve some of the diagnostic procedures and ensure early ascertainment.