Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female. (May 2021)

• Record Type: Journal Article
• Authors: Rasheed, Erum; Savage, Sarah; Walsh, Elena; Brazil, Nadia; Ralph, Nicola; Gorman, Peter O'; Crowley, Vivion
• Is Part Of: Annals of clinical biochemistry. Volume 58:Number 3(2021)
• Page Start: 251
• Page End: 256
• Publication Date: 2021-05
• Subjects: Familial PCT -- UROD mutation -- ovarian stimulation -- oestrogen; Clinical chemistry -- Periodicals; Clinical biochemistry -- Periodicals; 616.075
• DOI: 10.1177/0004563220988037
• Languages: English
• ISSNs: 0004-5632

Abstract

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