[Hereditary prostate cancer].
Laizhou, China. In Postepy Hig Med Dosw (online), 2013
According to literature data HPC is associated with genes involved in androgen metabolism, including androgen receptor gene--AR, SRD5A2 and CYP17, genes involved in the DNA damage repair, including BRCA1, BRCA2, NBS1 and MLH1 or some developmental genes as HOXB13.
Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
Hong Kong, Hong Kong. In Clin Chem, 2013
METHODS: We conducted a retrospective review of the results of urinary steroid profiling (USP) by GC-MS and mutational analysis of SRD5A2 [steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)] by PCR and direct DNA sequencing of all 46,XY DSD patients referred to our laboratory with biochemical and/or genetic findings compatible with 5ARD.
Aetiology of hypospadias: a systematic review of genes and environment.
Nijmegen, Netherlands. In Hum Reprod Update, 2012
Studies screening groups of patients with hypospadias for single gene defects found mutations in WT1, SF1, BMP4, BMP7, HOXA4, HOXB6, FGF8, FGFR2, AR, HSD3B2, SRD5A2, ATF3, MAMLD1, MID1 and BNC2.
Steroid 5 alpha-reductase 2 deficiency.
Dallas, United States. In Endocr Rev, 1993
In the 20 yr since it was established that impairment of dihydrotestosterone formation is the cause of a rare form of human intersex, a wealth of information has accumulated about the genetics, endocrinology, and variable phenotypic manifestations, culminating in the cloning of cDNAs encoding two 5 alpha-reductase genes and documentation that mutations in the steroid 5 alpha-reductase 2 gene are the cause of 5 alpha-reductase deficiency.
Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism.
Dallas, United States. In Nature, 1991
The conversion of testosterone into dihydrotestosterone by steroid 5 alpha-reductase is a key reaction in androgen action, and is essential both for the formation of the male phenotype during embryogenesis and for androgen-mediated growth of tissues such as the prostate.