Here I present: “Estrogen Resistance”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ESTRR) 雌激素抵抗。icd10=Z17.0
INTRODUCTION.
Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes. Some patients exhibit continued growth into adulthood.
There is evidence that estrogen resistance (ESTRR) is caused by homozygous mutation in the alpha estrogen receptor gene (ESR1) on cytogenetic location 6q25.1-6q25.2 and genomic coordinates 6:151,656,672-152,129,619. The screenshot of the ESR1 gene 427,948 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ESR1 in the 6q25.1-6q25.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:151,239,967 | AKAP12 | A-kinase anchor protein 12 |
| 6:151,364,115 | ZBTB2 | Zinc finger- and BTB domain-containing protein 2 |
| 6:151,404,762 | RMND1 | Required for meiotic nuclear division 1 homolog |
| 6:151,452,466 | ARMT1 | Acidic residue methyltransferase 1 |
| 6:151,656,672 | ESR1 | Estrogen receptor 1 |
| 6:152,121,687 | SYNE1 | Spectrin repeat-containing nuclear envelope protein 1 |
| 6:152,697,897 | MYCT1 | MYC target in myeloid cells 1 |
| 6:152,750,797 | VIP | Vasoactive intestinal peptide |
| 6:152,970,535 | FBXO5 | F-box only protein 5 |
| 6:152,987,362 | MTRF1L | Mitochondrial translational release factor 1-like |
