Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Division of Endocrinology and Metabolism, Biomedical Research Foundation of the Academy of Athens, Athens, Greece.
Eur J Endocrinol. 2018 Oct 12;179(5):C1-C4. doi: 10.1530/EJE-18-0471.
Glucocorticoids signal through their cognate, ubiquitously expressed glucocorticoid receptor (GR), which influences the transcription of a large number of target genes. Several genetic defects, including point mutations, deletions or insertions in the NR3C1 gene that encodes the GR, have been associated with familial or sporadic generalized glucocorticoid resistance or Chrousos syndrome. One of the clinical manifestations of this rare endocrine condition is bilateral adrenal hyperplasia due to compensatory elevations of plasma ACTH concentrations. In this commentary, we discuss the interesting findings of the recently published French MUTA-GR Study, and present our perspective on the evolving field of NR3C1 pathology.
糖皮质激素通过其同源的、广泛表达的糖皮质激素受体 (GR) 发挥信号作用，影响大量靶基因的转录。一些遗传缺陷，包括编码 GR 的 NR3C1 基因中的点突变、缺失或插入，与家族性或散发性全身性糖皮质激素抵抗或 Chrousos 综合征有关。这种罕见的内分泌疾病的临床表现之一是由于血浆 ACTH 浓度代偿性升高导致双侧肾上腺增生。在这篇评论中，我们讨论了最近发表的法国 MUTA-GR 研究的有趣发现，并提出了我们对 NR3C1 病理学这一不断发展领域的看法。
