Characterization of a Novel Variant in the <i>NR3C1</i> Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome
We have described a novel heterozygous mutation of the NR3C1 gene associated with primary GGRS. This case highlights the importance of raising awareness of clinical and laboratory features of this rare disorder, to enable early diagnosis and avoid unnecessary and potentially dangerous diagnostic and therapeutic procedures.
Authors
- Laëtitia Martinerie (ORCID: https://orcid.org/0000-0001-5113-6344)
- Gabi Shefer (ORCID: https://orcid.org/0000-0002-9243-509X)
- Julie Perrot (ORCID: https://orcid.org/0009-0008-9094-3665)
- Michal Gershinsky
- Yona Greenman (ORCID: https://orcid.org/0000-0003-4923-488X)
- Margaux Laulhé (ORCID: https://orcid.org/0009-0009-4644-5391)
- Jérôme Fagart (ORCID: https://orcid.org/0000-0002-7965-0553)
- Michal Yacobi Bach
- Larbi Amazit (ORCID: https://orcid.org/0000-0003-1137-8722)
- Peter Kamenický (ORCID: https://orcid.org/0000-0002-1994-4226)
- Say Viengchareun (ORCID: https://orcid.org/0000-0003-4280-3250)
Institutions
- Centre National de la Recherche Scientifique (FR)
- École Polytechnique (FR)
- Inserm (FR)
- Tel Aviv University (IL)
- Technion – Israel Institute of Technology (IL)
- Université Paris Cité (FR)
- Université Paris-Saclay (FR)
- Tel Aviv Sourasky Medical Center (IL)
- Sorbonne Paris Cité (FR)
- Carmel Medical Center (IL)
- Hôpital Robert-Debré (FR)
- Institute of Endocrinology (CZ)
- Laboratoire d'Informatique de l'École Polytechnique (FR)
- Bicêtre Hospital (FR)
- Clalit Health Services (IL)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1210/clinem/dgae829
- Citations
- 2
- Primary Topic
- Adrenal Hormones and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.72
Funders
- Alliance Nationale pour les Sciences de la Vie et de la Santé
- Institut National de la Santé et de la Recherche Médicale
- Université Paris-Saclay