Spontaneous Adrenal Hemorrhage in a Pregnant Woman With Glucocorticoid Resistance Syndrome.
NR3C1
adrenal hemorrhage
glucocorticoid resistance syndrome
hypokalemic paralysis
Journal
JCEM case reports
ISSN: 2755-1520
Titre abrégé: JCEM Case Rep
Pays: England
ID NLM: 9918609886906676
Informations de publication
Date de publication:
Apr 2024
Apr 2024
Historique:
received:
21
11
2023
medline:
18
4
2024
pubmed:
18
4
2024
entrez:
18
4
2024
Statut:
epublish
Résumé
Glucocorticoid resistance syndrome is a rare disorder with no genetically proven cases reported from India; in addition, there are no descriptions available regarding its management during pregnancy. A 27-year-old woman, hypertensive since the age of 17 years, presented with hypokalemic paresis. She reported regular menses and acne. On investigation, she had elevated serum cortisol that remained unsuppressed after a low-dose dexamethasone suppression test. Genetic analysis revealed a novel, homozygous missense variant in exon 5 of the
Identifiants
pubmed: 38633359
doi: 10.1210/jcemcr/luae052
pii: luae052
pmc: PMC11023505
doi:
Types de publication
Case Reports
Langues
eng
Pagination
luae052Informations de copyright
© The Author(s) 2024. Published by Oxford University Press on behalf of the Endocrine Society.