McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue.

ABSTRACT:

Objective

Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling. Most forms of BAH are linked to increased cAMP signaling. We report the case of an infant with MAS who had BAH.

Methods

Genomic DNA fragments from blood and adrenal tissue encompassing regions (exons 8 and 9) with the hot spot activating missense GNAS mutations were amplified by classical bidirectional Sanger sequencing.

Results

The infant was found to carry the most common GNAS mutation, in exon 8 (c.602G >A, p. R201H), only in her

SUBMITTER: Angelousi A 

PROVIDER: S-EPMC6341467 | biostudies-literature | 2015 Jul-Sep

REPOSITORIES: biostudies-literature