Syndromes associated with abnormalities in the adrenal cortex

Abstract 

Pathology of the adrenal cortex is a clinical manifestation of a number of different syndromes. These alterations include gross and microscopic findings, functional or asymptomatic conditions, and the entire spectrum of growth abnormalities, from hyperplasia to carcinoma. This review will cover syndromes that are associated with adrenal cortical tumours and hyperplasia, or with other specific adrenal cortical pathology, and those that are associated with congenital adrenal insufficiency. The syndromes associated with hyperplasia and tumour development include Beckwith-Wiedemann, Li-Fraumeni, Carney complex, McCune-Albright, multiple endocrine neoplasia type 1 and congenital adrenal hyperplasia. The syndromes associated with adrenal insufficiency include triple A syndrome, familial glucocorticoid deficiency and X-linked adrenoleucodystrophy. Adrenal calcification in Wolman syndrome will also be examined. The clinical, genetic, and histopathological features of each disease will be discussed.

Keywords: adrenal cortex, Beckwith-Weidemann, congenital adrenal hyperplasia, congenital adrenal hypoplasia, Li-Fraumeni, McCune-Albright, MEN-1, syndrome, X-linked adrenoleucodystrophy