The aim of this study was to characterize the role of LKB1 in regulating the expression of aromatase in boys with PJS via signaling pathways involving AMP-activated protein kinase (AMPK) and cyclic AMP-responsive element binding protein-regulated transcription coactivators (CRTCs).
The congenital gene defects of Carney complex or of Peutz-Jeghers syndrome might trigger a cascade of intracellular events that leads to overexpression of aromatase in Sertoli cells, favoring the development of a LCCSCT.
However, in several prepubertal patients with Peutz-Jegher's Syndrome (PJS) with bilateral multifocal sex cord tumors and enlarged seminiferous tubules and Sertoli cells, aromatase was expressed in these Sertoli cells, but absent from normal Sertoli and Leydig cells.