Porphyria cutanea tarda precipitated by ovarian stimulation during oocyte retrieval in a genetically susceptible female.
Ann Clin Biochem
; 58(3): 251-256, 2021 05.
Article
em En
| MEDLINE
| ID: mdl-33393347
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Indução da Ovulação
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Porfiria Cutânea Tardia
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Predisposição Genética para Doença
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Recuperação de Oócitos
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Ann Clin Biochem
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Irlanda