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 language | English (US) |
---|---|
Article number | 107562 |
Journal | Molecular Genetics and Metabolism |
Volume | 138 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2023 |
Bibliographical note
Publisher Copyright:© 2023 Elsevier Inc.
Keywords
- Anticoagulation
- Congenital disorders of glycosylation
- Delayed puberty
- Estrogen replacement
- Gonadal failure
- Thrombosis
PubMed: MeSH publication types
- Journal Article