Fig. 1.
Geller syndrome pathophysiology. In normal gestation, progesterone acts as an antagonist of the mineralocorticoid receptor (MR). Contrary, in Geller syndrome, a gain-of-function mutation in the NR3C2 gene, specifically a serine-to-leucine substitution at position 810 (S810L), alters the receptor's ligand specificity, allowing progesterone to hyper-activate the MR. This leads to kaliuresis, hypokalemia, and arterial hypertension. Created with Biorender.com.
