Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female
| Autor: | Vivion Crowley, Sarah Savage, Nicola Ralph, Erum Rasheed, Elena Walsh, Peter O' Gorman, Nadia Brazil |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Adult Porphyria Cutanea Tarda congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Porphyrins Clinical Biochemistry Oocyte Retrieval Stimulation 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Ovulation Induction Internal medicine medicine Genetic predisposition Humans Porphyria cutanea tarda Genetic Predisposition to Disease skin and connective tissue diseases business.industry nutritional and metabolic diseases Familial porphyria cutanea tarda General Medicine medicine.disease Oocyte 030104 developmental biology Endocrinology medicine.anatomical_structure Mutation Female business |
| Zdroj: | Annals of clinical biochemistry. 58(3) |
| ISSN: | 1758-1001 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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