Recombinant Human Testosterone 17-beta-dehydrogenase 3 (HSD17B3)

1. mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development PMID: 28774765
2. The 17beta-HSD3 G289S substitution, previously reported in other patients with 46,XY disorders of sex development, is a polymorphism that does not cause the disorder. PMID: 28859874
3. The study shows that 17-beta-HSD-3 deficiency is not an uncommon disorder among Egyptian DSD cases. It was evidenced that the mutational profile of the disease is rather heterogeneous, relatively different from those reported in other populations, and has a high degree of novel genetic defects. PMID: 27073926
4. analysis of Tunisian patients with mutations in the gene encoding 17beta-hydroxysteroid dehydrogenase type 3 and a founder effect PMID: 26956191
5. Mutation G133R in HSD17B3 results in almost complete loss of enzyme activity since it interferes with binding of cofactor NADPH. PMID: 26545797
6. Mutations in the HSD17B3 gene is associated with Disorders of Sex Development. PMID: 25879310
7. Missense mutation in HSD17B3 gene in a 46, XY adolescent is associated with primary amenorrhea and virilization at puberty PMID: 25064799
8. 38% of unrelated 46,XY females with unknown diagnosis in the study have HSD17B3 mutations predicted to cause HSD17B3 deficiency. PMID: 25740850
9. These results suggest that the HSD17B3 G289S polymorphism may be a potential risk modifier for hypospadias. PMID: 20059664
10. 68 males with testicular 17beta-HSD deficiency were identified among a highly inbred Arab population in Israel as affected with male pseudohermaphroditism. [Review] PMID: 22217844
11. The H8 haplotype of the HSD17B3 gene was significantly associated with increased risks of acne vulgaris in Han Chinese from the Southwest China. PMID: 24157973
12. Case Report: rare form of 46,XY disorders of sexual development, associated to a novel gene nonsense mutation of HSD17B3 gene. PMID: 22594312
13. Circulating testosterone levels were higher in men with early repolarization electrocardiograms. PMID: 23916922
14. Androgen-metaboliizing enzymes, 17betaHSD5 and 5alpha1 immunoreactivity was decreased in metastatic lymph nodes of breast cancers. PMID: 23953348
15. in two sisters with 17beta hydroxysteroid dehydrogenase type 3 deficiency, a heterozygous mutation for both a known splicing mutation and a previously unreported amplification mutation of the HSD17B3 gene were identified PMID: 23375913
16. Results demonstrate a cytoplasmic orientation of 17beta-HSD3 and dependence on glucose-6-phosphate dehydrogenase-generated NADPH, explaining the lack of a direct functional coupling with the luminal 11beta-HSD1-mediated glucocorticoid metabolism PMID: 23183177
17. oxazolidinediones and thiazolidinediones are potent 17beta-hydroxysteroid dehydrogenase type 3 inhibitors PMID: 22137341
18. XY sex reversal is sufficiently variable in 17betaHSD3 deficiency to cause problems in accurate diagnosis, particularly in distinguishing it from Androgen Insentitivity Syndrome in undervirilized males.. PMID: 17466011
19. present the clinical, biochemical, and genetic features of a male pseudohermaphrodite whose condition was caused by 17beta-HSD3 deficiency. PMID: 17509588

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HGNC: 5212

OMIM: 264300

KEGG: hsa:3293

STRING: 9606.ENSP00000364412

UniGene: Hs.477