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Trends Endocrinol Metab. 2005 Dec;16(10):458-68. Epub 2005 Nov 4.

Genetic analysis of adrenal absence: agenesis and aplasia.

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  • 1Department of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, 5568 MSRBII, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0678, USA.


The adrenal cortex shares a common embryological heritage with the gonad and kidney: all are derived from components of the urogenital ridge. Adrenocortical specification from this embryonic structure and the ultimate organogenesis of the adrenal gland are directed by the sequential expression of transcriptional regulators, with later development being additionally mediated by endocrine hormones that regulate organ maintenance and tissue differentiation. Recent advancements in the field of human and mouse genetics have accumulated evidence for a host of novel factors involved in these processes, such as the hedgehog signaling network and peptides derived from proopiomelanocortin.

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