Paucity of ACTH and Androgen Receptors in Massive Myelolipoma of Congenital Adrenal Hyperplasia Patient: More Insight Into Pathogenesis

Lai Y Wong, Peter Campbell, Takeshi Usui, Anthony J O'Sullivan


Adrenal myelolipomas in congenital adrenal hyperplasia (CAH) are rare. The pathogenesis is unknown but adrenocorticotropic hormone (ACTH) is implicated to play a key role. Demonstration of paucity of ACTH and androgen receptors in these tumors may suggest otherwise. We describe a 54-year-old woman, presenting with bilateral massive myelolipoma associated with 21-hydroxylase deficiency CAH. Bilateral adrenalectomy was performed due to significant mass effect. Reverse transcriptase-polymerase chain reaction performed on tumor tissue showed no expression of the ACTH (MC2R - melanocortin 2 receptor) and androgen receptors. There are few published reports on pathogenesis of myelolipoma or in association with CAH. Recent evidence of chromosomal abnormality similar to hematopoietic cancer and inactivation of X chromosome in some myelolipomas suggestive of clonal proliferation from a common pluripotent stem cell has been found. However, origin of the hematopoietic tissue and the triggering factor for proliferation and development of the myelolipomas remain unclear. Nevertheless, the implication of these findings is exciting, as it suggests that development and proliferation of myelolipoma is not necessarily attributable to excess ACTH stimulation alone. Presence of local and systemic growth factors is possibly yet to be determined.

J Endocrinol Metab. 2011;1(2):87-89


Adrenal; Myelolipoma; Pathogenesis

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