EXPRESS: Porphyria Cutanea Tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female

We report a case of 33-year old female with underlying genetic susceptibility for familial porphyria cutanea tarda (PCT) due to novel UROD variant (c.636+2 dupT) unmasked by transient exposure to supraphysiological estrogen levels following a single cycle of successful controlled ovarian stimulation for oocyte retrieval. Use of oral estrogen in the form of oral contraceptive pills and hormone replacement therapy has been well known to trigger active PCT phenotype in susceptible women. However, to date the emergence of clinically overt PCT has not been reported in association with fertility treatment in the literature before. Keywords: Familial PCT, UROD mutation, Ovarian stimulation, Estrogen