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Piera Rizzolo, Valentina Silvestri, Virginia Valentini, Veronica Zelli, Agostino Bucalo, Ines Zanna, Simonetta Bianchi, Maria Grazia Tibiletti, Antonio Russo, Liliana Varesco, Gianluca Tedaldi, Bernardo Bonanni, Jacopo Azzollini, Siranoush Manoukian, Anna Coppa, Giuseppe Giannini, Laura Cortesi, Alessandra Viel, Marco Montagna, Paolo Peterlongo, Paolo Radice, Domenico Palli and Laura Ottini

in genes involved in estrogen biosynthesis and metabolism pathways, such as Cytochrome P450 family 17 subfamily A member 1 ( CYP17A1 ) and Cytochrome P450 family 1 subfamily B member 1 ( CYP1B1 ), may cause an increased risk of hormone-related cancers

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Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

. Six cytochrome P450 (CYP) enzymes including CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1 and CYP21A2 are involved in the synthesis of steroid hormones. Although deficiencies of any of these enzymes can result in CAH ( 3 ), CYP21A2 deficiency (21OHD

Open access

I Savchuk, M L Morvan, J P Antignac, K Gemzell-Danielsson, B Le Bizec, O Söder and K Svechnikov

, androsterone, androstanediol and DHT by the action of 5α-reductase 1 (SRD5A1), CYP17A1, the family of 3α-HSD1–4 (AKR1C1–4), 17βHSD3 and 17βHSD6 (HSD17B3, HSD17B6) ( 9 , 11 ). Recent studies have reported the presence of a backdoor pathway of DHT synthesis in

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Milène Tetsi Nomigni, Sophie Ouzounian, Alice Benoit, Jacqueline Vadrot, Frédérique Tissier, Sylvie Renouf, Hervé Lefebvre, Sophie Christin-Maitre and Estelle Louiset


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Michael Ulm, Arvind V Ramesh, Keely M McNamara, Suriyan Ponnusamy, Hironobu Sasano and Ramesh Narayanan

, 5α-reductase inhibitors, AR antagonists and androgen-synthesizing enzyme Cyp17A1 inhibitor ( 9 ). PCas that escape from these treatment options will be treated with chemotherapeutic agents such as cabazitaxel or docetaxel ( 10 ). LHRH agonists or

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Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

>T Pathogenic CYP17A1 AR c.666+5G>A VUS 14 M DAA NSDUM WT1 AD c.605T>G p.Leu202Arg D U Likely pathogenic 15 M DAA NSDUM AR XL c.2199C>A p.Asp733Glu D D Pathogenic

Open access

L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

–23 WNT4 1p35 WT1 11p13  Disorders of hormone synthesis or action AMH 19p13.3–p13.2 AMHR2 12q13 AR Xq11–q12 CYB5A 18q23 CYP11A1 15q23–24 CYP17A1 10q24.3 DHCR7 11q12–q13 HSD3B2 1p13

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Emma Jernberg, Anders Bergh and Pernilla Wikström

, CYP17A1 , HSD3B2 ) were reduced compared to levels in prostate tissue ( 102 ). Notably, a large variation in androgen levels and in levels of steroid-converting enzymes has been reported between patients ( 102 , 117 ). We found high AKR1C3 protein

Open access

Mojca Jensterle, Nika Aleksandra Kravos, Simona Ferjan, Katja Goricar, Vita Dolzan and Andrej Janez

human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain . Endocrinology 2012 4354 – 4366 . ( ) 35 Mansfield R Galea R Brincat M