RESUMEN

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.

Asunto(s)

Predisposición Genética a la Enfermedad , Recuperación del Oocito/efectos adversos , Inducción de la Ovulación/efectos adversos , Porfiria Cutánea Tardía/etiología , Porfiria Cutánea Tardía/genética , Adulto , Femenino , Humanos , Mutación , Porfirinas/análisis