Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation
(2023) In Molecular Genetics and Metabolism 138(4).- 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.
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https://lup.lub.lu.se/record/87397f25-195a-4cad-ae25-fc22a050f01b
- author
- Eklund, Erik A. LU ; Miller, Bradley S. and Boucher, Alexander A.
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Anticoagulation, Congenital disorders of glycosylation, Delayed puberty, Estrogen replacement, Gonadal failure, Thrombosis
- in
- Molecular Genetics and Metabolism
- volume
- 138
- issue
- 4
- article number
- 107562
- publisher
- Elsevier
- external identifiers
-
- pmid:37023501
- scopus:85151498716
- ISSN
- 1096-7192
- DOI
- 10.1016/j.ymgme.2023.107562
- language
- English
- LU publication?
- yes
- id
- 87397f25-195a-4cad-ae25-fc22a050f01b
- date added to LUP
- 2023-05-22 13:13:40
- date last changed
- 2024-06-15 03:07:57
@article{87397f25-195a-4cad-ae25-fc22a050f01b,
abstract = {{<p>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.</p>}},
author = {{Eklund, Erik A. and Miller, Bradley S. and Boucher, Alexander A.}},
issn = {{1096-7192}},
keywords = {{Anticoagulation; Congenital disorders of glycosylation; Delayed puberty; Estrogen replacement; Gonadal failure; Thrombosis}},
language = {{eng}},
number = {{4}},
publisher = {{Elsevier}},
series = {{Molecular Genetics and Metabolism}},
title = {{Thrombosis risk with estrogen use for puberty induction in congenital disorders of glycosylation}},
url = {{http://dx.doi.org/10.1016/j.ymgme.2023.107562}},
doi = {{10.1016/j.ymgme.2023.107562}},
volume = {{138}},
year = {{2023}},
}