Article
Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female.
Annals of clinical biochemistry - 1 May 2021
Rasheed Erum, Savage Sarah, Walsh Elena, Brazil Nadia, Ralph Nicola, Gorman Peter O', Crowley Vivion
Abstract excerpt
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...
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