Here I present: “Generalized Glucocorticoid Resistance”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 廣義糖皮質激素耐藥性。(GCCR).
INTRODUCTION.
Generalized glucocorticoid resistance (GCCR) is an autosomal dominant disease characterized by increased plasma cortisol concentration and high urinary free cortisol, resistance to adrenal suppression by dexamethasone, and the absence of clinical stigmata of Cushing syndrome. The clinical expression of the disease is variable. Common features include hypoglycemia, hypertension, and metabolic alkalosis. In females, overproduction of adrenal androgens has been associated with infertility, male-pattern baldness, hirsutism, and menstrual irregularities.
There is evidence generalized glucocorticoid resistance (GCCR) is caused by heterozygous mutation in the glucocorticoid nuclear receptor-3C1 (NR3C1) gene on cytogenetic location 5q31.3 and 5:143,277,931-143,435,512. The screenshot of the NR3C1 gene 157,582 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides NR3C1 in the 5q31.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:142,310,430 | SPRY4 | SPRY domain containing 4 |
| 5:142,317,620 | SPRY4IT1 | SPRY4 intronic transcript 1 |
| 5:142,592,178 | FGF1 | Fibroblast growth factor-1 (acidic) |
| 5:142,770,377 | ARHGAP26 | RHO GTPase-activating protein 26 |
| 5:143,277,931 | NR3C1 | Nuclear receptor 3, group C, member 1 |
| 5:143,812,161 | HLA-HB1 | Minor histocompatibility antigen HB-1 |
| 5:144,158,162 | YIPF5 | Yip1 domain family, member 5 |
| 5:144,170,873 | KCTD16 | Potassium channel tetramerization domain 16 |
| 5:145,100,001 | EMP | Myeloproliferative disorder, chronic, eosinophilia |
| 5:145,228,985 | PRELID2 | PRELI domain-containing protein 2 |
