Adrenal Diseases

The adrenal glands became known as gladulae renis incumbentes through the work of Bartolommeo Eustachio, nearly five centuries ago. These anatomic structures, however, did not enter the realm of clinical medicine until the middle of the 19th century, when T. Addison described the first patients with adrenal insufficiency. In the years that followed, the three zonae of the adrenal cortex were defined and several clinical and pathologic abnormalities were described. Recently, a number of adrenocortical disorders have had their pathophysiology elucidated at the physiologic and molecular levels. This chapter reviews diseases associated with adrenocortical dysfunction, whose molecular pathogenesis is either known or under investigation. These include primary glucocorticoid and corticotropin resistance (hereditary isolated glucocorticoid deficiency, triple A syndrome), adrenal hypoplasia congenita, pseudohypoaldosteronism, adrenoleukodystrophy and adrenomyeloneuropathy, the apparent mineralocorticoid excess syndrome, and Carney complex. Adrenocortical cancer is discussed separately, since in its inherited forms (Li-Fraumeni and Beckwith-Wiedemann syndromes) the molecular pathogenesis has been elucidated to some extent, whereas little is known about the molecular mechanisms leading to sporadic carcinomas. The congenital adrenal hyperplasia syndromes and Liddle syndrome and other causes of hypertension are described elsewhere.