Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported. Affected individuals have a broad spectrum of presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-ap...

Prostate cancer (PC) is the second most commonly diagnosed type of cancer in males with 1,114,072 new cases in 2015. The MTHFR enzyme acts in the folate metabolism, which is essential in methylation and synthesis of nucleic acids. MTHFR C677T alters homocysteine levels and folate assimilation associated with DNA damage. Androgens play essential roles in prostate growth. The SRD5A2 enzyme metabo...

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reductase type 2 deficiency (5α-RD2) and from cases without molecular defects in the AR and SRD5A2 genes. Fifty-eight patients (51 families) were included...

Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient with CYP17 deficiency (17α-hydroxylase/17,20-lyase deficiency) caused by a homozygous p.R96W mutation on exon 1 of the CYP17 gene, an unusual genotype in Brazilian patients w...

صلاخلا ــ ة : مت ةقرولا هذه يف ءاشنإ يف هدعاسملل مدقتم ماظن بناوج ذيفنتو ميمصت ضرع قتو و مي ءادأ حيحصت تارفش لأا ءاطخ ةليلق لا ةناتم ، ةينبم ىلع ءوفاكتلا رايتخا . موقي امه نيتيسيئر نيتفيظوب ةساردلا هذه يف مدقتملا ماظنلا : 1 ادأ باسحل ةيزاوتملا هاآاحملا ء تارفش حيحصت لأا ءاطخ ةليلق نمزب ةفاثكلا ادج ريصق ةنراقم ةمظنأب ةاآاحملا ةدوجوملا . 2 ةليلق ءاطخلأا حيحصت تارفشو فعضلا قطانم صحف نع ة...

Association between CYP17 T-34C (rs743572) polymorphism and breast cancer (BC) risk was controversial. In order to derive a more definitive conclusion, we performed this meta-analysis. We searched in the databases of PubMed, EMBASE and Cochrane for eligible publications. Pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to assess the strength of association between CYP1...

Combined 17alpha-hydroxylase/17,20-lyase defi ciency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid precursors and DSD in males and sexual infantilism in females, due to impaired production of sex hormones. Several CYP17 mutations resulting in 17alpha-hydroxylase/17,20-lya...

In this study, we evaluated genetic factors related to the mineral density during post-menopause. We evaluated 110 women in the first 5 years post-menopause, without previous hormone replacement therapy. Cytochrome P450 17 (CYP17) (rs743572), catechol-O-methyl transferase (COMT) (rs4680), and estrogen receptor 1 (ESR1) (rs9322331) were examined for the presence of polymorphisms. Clinical data w...

Abiraterone acetate is a potent, selective, and orally bioavailable small molecule inhibitor of CYP17, an enzyme that catalyzes two key serial reactions (17 alpha hydroxylase and 17,20 lyase) in androgen and estrogen biosynthesis. Clinical trials have confirmed that specific inhibition of CYP17 is safe and results in clinically important antitumor activity in up to 70% of castrate patients with...