Oral Presentation Annual Meetings of the Endocrine Society of Australia and Society for Reproductive Biology and Australia and New Zealand Bone and Mineral Society 2016

An update on the genetics of adrenal diseases (#118)

Constantine Stratakis 1
  1. NIH National Institute of Child Health and Human Development, Bethesda, MARYLAND, United States

In the last 30 years, an unprecedented production of new knowledge about the adrenal glands has led to sub-specialization in the field: enzymatic deficiencies of steroidogenesis are mostly associated with congenital adrenocortical hyperplasia (CAH) which by themselves could be a separate talk. Thus, in my talk I focus on new congenital causes of adrenal insufficiency (AI) associated with hypoplasia of the adrenal glands and what is new about disorders that affect aspects of adrenal function at a young age that have been recently molecularly elucidated. I will not discuss CAH. I then will present an update on diseases that are associated with tumors of the adrenal glands, including cortisol-producing adenomas (CPAs) and aldosterone-producing tumors (APTs). Bilateral adrenocortical hypeprlasias are a relatively new and expanding cause of corticotropin-independent cause of Cushing syndrome CS (AICS): they can be difficult to diagnose due to their rarity and often insidious or cyclical clinical presentation. Adrenocortical cancer is a rare cause of CS but should be excluded in any patient with AICS, especially among younger patients with the condition. These tumors are often caused by germline or somatic mutations in an ever expanding list of genes with implications for the family of the patients and the prognosis of the patients. We present some of the newest data on PRKAR1A, PRKACA, and ARMC5 defects causing CD, AICS and related pathophysiology, as well as KCNJ5 and other genes associated with APTs and hyperaldosteronism.