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Horm Metab Res 2020; 52(03): 133-141
DOI: 10.1055/a-1107-2972
Review
© Georg Thieme Verlag KG Stuttgart · New York

A Gene-Based Classification of Primary Adrenocortical Hyperplasias

Fady Hannah-Shmouni 
1   Section on Endocrinology & Genetics (SEGEN), NICHD, Bethesda, MD, USA
,
Constantine A. Stratakis
1   Section on Endocrinology & Genetics (SEGEN), NICHD, Bethesda, MD, USA
› Author Affiliations Funding Information This work was supported by the intramural program of the Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Institutes of Health (NIH), protocol HD008920. Dr. Stratakis has patents on the PRKAR1A, PDE11A, and GPR101 genes and his laboratory has recently received research funding from Pfizer Inc.
Further Information

Publication History

received 11 November 2019

accepted 15 January 2020

Publication Date:
25 March 2020 (online)

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Abstract

Primary or adrenocorticotropin-independent adrenocortical tumors and hyperplasias represent a heterogeneous group of adrenocortical neoplasms that arise from various genetic defects, either in isolation or familial. The traditional classification as adenomas, hyperplasias, and carcinomas is non-specific. The recent identification of various germline and somatic genes in the development of primary adrenocortical hyperplasias has provided important new insights into the molecular pathogenesis of adrenal diseases. In this new era of personalized care and genetics, a gene-based classification that is more specific is required to assist in the understanding of their disease processes, hormonal functionality and signaling pathways. Additionally, a gene-based classification carries implications for treatment, genetic counseling and screening of asymptomatic family members. In this review, we discuss the genetics of benign adrenocorticotropin-independent adrenocortical hyperplasias, and propose a new gene-based classification system and diagnostic algorithm that may aid the clinician in prioritizing genetic testing, screening and counseling of affected, at risk individuals and their relatives.

Key words

adrenal hyperplasia - Cushing syndrome - genetics - Carney complex - cyclic AMP - PPNAD - PMAH
 

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