| Autor: |
Larina II; Endocrinology Research Centre., Makazan NV; Endocrinology Research Centre., Ivashchenko KV; Endocrinology Research Centre., Platonova NM; Endocrinology Research Centre., Orlova EM; Endocrinology Research Centre., Kareva MA; Endocrinology Research Centre., Sozaeva LS; Endocrinology Research Centre., Yukina MY; Endocrinology Research Centre., Tulpakov AN; Research Centre for Medical Genetics., Dukhanin AS; N.I. Pirogov Russian National Research Medical University., Shimanovskii NL; N.I. Pirogov Russian National Research Medical University., Troshina EA; N.I. Pirogov Russian National Research Medical University. |
| Jazyk: |
ruština |
| Zdroj: |
Problemy endokrinologii [Probl Endokrinol (Mosk)] 2024 Feb 28; Vol. 70 (1), pp. 30-37. Date of Electronic Publication: 2024 Feb 28. |
| DOI: |
10.14341/probl13321 |
| Abstrakt: |
Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess. At present time, primary generalized glucocorticoid resistance has been exclusively associated with defects in the NR3C1 gene. Here, we present a case report of an adolescent patient with clinical presentation of glucocorticoid resistance confirmed by detailed endocrinologic evaluation but no confirmed mutations in the NR3C1 gene. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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