ABSTRACT
Growth hormone insufficiency (GHI) may be associated with other pituitary hormone deficiencies as part of an evolving endocrinopathy. There may be evidence of associated disorders. GHI may be associated with other pituitary hormone deficiencies as part of an evolving endocrinopathy. The bone age is usually delayed, as is the dentition. Investigations should initially be performed to exclude non-endocrine pathology. Endocrine features relate to hypothalamic defects. These include hypogonadotrophic hypogonadism, leading to poor secondary sexual development and delayed menarche and growth hormone deficiency. The mutation is found to a variable extent in different affected endocrine and non-endocrine tissues, consistent with the mosaic distribution of abnormal cells generated by a somatic cell mutation early in embryogenesis. Non-endocrine abnormalities include chronic hepatic disease, thymic hyperplasia and cardiopulmonary disease. Diabetes mellitus may also be caused by diseases of the exocrine pancreas, endocrinopathies, drugs or chemicals and infections, and may also be associated with other genetic syndromes.
