Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation

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Abstract

Congenital disorders of glycosylation are a group of rare related disorders causing multisystem dysfunction, including ovarian failure in females that requires early estrogen replacement. Glycosylation defects also disrupt normal synthesis of several coagulation factors, increasing thrombotic risks and complicating hormone replacement. This series describes four females with different types of CDG who developed venous thromboses while on transdermal estrogen replacement. The authors highlight the knowledge gaps around anticoagulation for this population and propose further investigations.

Original languageEnglish (US)
Article number107562
Pages (from-to)107562
JournalMolecular Genetics and Metabolism
Volume138
Issue number4
Early online dateMar 30 2023
DOIs
StatePublished - Apr 2023

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© 2023 Elsevier Inc.

PubMed: MeSH publication types

  • Journal Article

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