Here I present: “Hypogonadotropic hypogonadism”, Victor McKusick, Mendelian Inheritance in Man’ 1966, 促性腺功能减退性腺症。(HH).
INTRODUCTION.
Hypogonadotropic hypogonadism (HH) is due to problems with either the hypothalamus or pituitary gland affecting the hypothalamic-pituitary-gonadal axis (HPG axis). Hypothalamic disorders result from a deficiency in the release of gonadotropic releasing hormone (GnRH), while pituitary gland disorders are due to a deficiency in the release of gonadotropins from the anterior pituitary.
There is evidence that congenital hypogonadotrophic hypogonadism (CHH) is a polygenic disorder characterized by multiple genes including the coiled-coil domain-containing protein 141 (CCDC141) gene on cytogenetic location 2q31.2 and genomic coordinates 2:178,814,978-179,050,137 . The screenshot of the CCDC141 gene 235,160 bp (based pairs) of DNA sequence length is shown BELOW. Nine (9) other genes in the 2q31.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:178,451,378 | PJVK | Pejvakin |
| 2:178,463,664 | FKBP7 | FK506-binding protein 7 |
| 2:178,480,457 | PLEKHA3 | Pleckstrin homology A, member 3 |
| 2:178,525,989 | TTN | Titin |
| 2:178,814,978 | CCDC141 | Coiled-coil domain-containing protein 141 |
| 2:179,441,982 | ZNF385B | Zinc finger protein 385B |
| 2:179,700,001 | DA10 | Arthrogryposis, distal, type 10 |
| 2:179,860,836 | MIR1258 | Micro RNA 1258 |
| 2:179,944,876 | CWC22 | CWC22 spliceosome-associated protein |
| 2:180,692,104 | SCHLAP1 | SWI/SNF complex antagonist prostate cancer 1 |
