Article
An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.
BMC medical genetics - 6 Mar 2018
Molnár Ágnes, Patócs Attila, Likó István, Nyírő Gábor, Rácz Károly, Tóth Miklós, Sármán Beatrix
Abstract excerpt
BACKGROUND: Glucocorticoid resistance is a rare, sporadic or familial condition caused by mutation of the gene encoding the glucocorticoid receptor (GR). Clinically it is characterized by symptoms developed due to local, tissue-specific, or generalized partial insensitivity to glucocorticoids. CASE PRESENTATION: A 31-year-old woman was evaluated because of infertility at the Endocrine Unit of the 2nd Department...
Topics
- Adult
- Circadian Rhythm
- Dehydroepiandrosterone Sulfate
- Dexamethasone
- Female
- Genetic Counseling
- Glucocorticoids
- Heterozygote
- Humans
- Hydrocortisone
- Infertility
- Metabolism, Inborn Errors
- Mutation