In this report, the NSD1-specific mutation was not directly linked to lipedema; however, NSD1 has previously been reported to encode a protein that, in conjunction with other coregulators, binds to retinoid X, estrogen, and thyroid receptors, wherein it could either act as a co-repressor or co-activator of the nuclear receptors depending on the cellular context and presence/absence of the respective hormones [127,131,132]. This evidence concerns the gene NSD1 and Lipedema.