Here I present: “Leydig Hypoplasia Pseudohermaphoditism”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 莱迪格发育不良假性血浆。
INTRODUCTION.
Leydig hypoplasia pseudo hermaphroditism is an autosomal recessive genetic and endocrine syndrome affecting individuals with XY chromosomes. It is characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testosterone and other androgen sex hormones. The condition manifests itself as pseudohermaphroditism and infertility.
There is evidence Leydig hypoplasia pseudo hermaphroditism is caused by inactivating mutations in the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) on cytogenetic location 2p16.3 and genomic coordinates 2:48,686,774-48,755,724 . The screenshot of the LHCGR gene 68,951 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides LHCGR in the 2p16.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:48,313,659 | FOXN2 | Forkhead box N2 |
| 2:48,440,766 | PPP1R21 | Protein phosphatase 1, regulatory subunit 21 |
| 2:48,530,154 | STON1 | Stonin 1 |
| 2:48,617,856 | GTF2A1L | General transcription factor IIA, 1-like |
| 2:48,686,774 | LHCGR | Luteinizing hormone/choriogonadotropin receptor |
| 2:48,962,157 | FSHR | Follicle stimulating hormone receptor |
| 2:49,918,503 | NRXN1 | Neurexin 1 |
| 2:53,669,980 | ASB3 | Ankyrin repeat-containing SOCS box protein 3 |
| 2:53,767,783 | CHAC2 | CHAC cation transport regulator homolog 2 |
| 2:53,787,044 | ERLEC1 | Erlectin (endoplasmic reticulum lectin 1) |
