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
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
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
Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye
by signs of hyperandrogenism postnatally and in adulthood, and associated with minor mutations (3) . The most common mutations in the CYP21A2 gene are derived from a non-functional pseudogene CYP21A1P (4) . Both CYP21A2 and CYP21A1P are
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
Arpna Sharma, Vijay Simha Baddela, Frank Becker, Dirk Dannenberger, Torsten Viergutz and Jens Vanselow
(Bioline, Luckenwalde, Germany) from 200 ng RNA as previously described ( 17 ). Quantitative real-time PCR (qPCR) analysis qPCR was performed using SensiFAST SYBR No-ROX (Bioline, London, UK) with gene-specific primers ( Table 1 ) in a Light Cycler
Britt J van Keulen, Conor V Dolan, Bibian van der Voorn, Ruth Andrew, Brian R Walker, Hilleke Hulshoff Poll, Dorret I. Boomsma, Joost Rotteveel and Martijn J.j. Finken
Objective: Sex differences in disease susceptibility might be explained by sexual dimorphism in hypothalamic-pituitary-adrenal axis activity, which has been postulated to emerge during puberty. However, studies conducted thus far lacked an assessment of Tanner pubertal stage. This study aimed to assess the contribution of pubertal development to sexual dimorphism in cortisol production and metabolism.
Methods: Participants (n=218), were enrolled from a population-based Netherlands Twin Register. At the ages of 9, 12 and 17 years Tanner pubertal stage was assessed, and early-morning urine samples were collected. Cortisol metabolites were measured with GC-MS/MS, and ratios were calculated, representing cortisol metabolism enzyme activities, such as A-ring reductases, 11β-HSDs and CYP3A4. Cortisol production and metabolism parameters were compared between sexes for pre-pubertal (Tanner stage 1), early-pubertal (Tanner stage 2-3) and late-pubertal (Tanner stage 4-5) stages.
Results: Cortisol metabolite excretion rate decreased with pubertal maturation in both sexes, but did not significantly differ between sexes at any pubertal stage, although in girls a considerable decrease was observed between early- and late-pubertal stage (P<0.001). A-ring reductase activity was similar between sexes at pre- and early-pubertal stages, and was lower in girls than in boys at late-pubertal stage. Activities of 11β-HSDs were similar between sexes at pre-pubertal stage, and favored cortisone in girls at early- and late-pubertal stages. Cytochrome P450 3A4 activity did not differ between sexes.
Conclusions: Prepubertally, sexes were similar in cortisol parameters. During puberty, as compared to boys, in girls the activities of A-ring reductases declined and the balance between 11β-HSDs progressively favored cortisone. Our findings suggest that the sexual dimorphism in cortisol may either be explained by rising concentrations of sex steroids or by puberty-induced changes in body composition.
Masatada Watanabe, Shuji Ohno and Hiroshi Wachi
number of transcripts of the CYP19A1 gene in human skin tissues ( 7 ). In vitro -cultured human skin fibroblast cells have been reported to express aromatase ( 8 , 9 ). Aromatase activity was induced in human skin fibroblasts by dexamethasone (Dex
Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico
diagnostic approach for evaluation was conducted and psychological support was constantly provided to both patients and their families. The genetic analyses included the study of AR , AMH , CYP11B1 , CYP21A2 , DHH , DMRT1 , NR0B1 , NR5A1 , RSPO1
Milène Tetsi Nomigni, Sophie Ouzounian, Alice Benoit, Jacqueline Vadrot, Frédérique Tissier, Sylvie Renouf, Hervé Lefebvre, Sophie Christin-Maitre and Estelle Louiset
′ CYP17A1 NM_000102.3 F: 5′-AGCCGCACACCAACTATCAGTGAC-3′ 134 R: 5′-TCACCGATGCTGGAGTCAACGTTG-3′ CYP21A2 NM_000500.7 F: 5′-GAGTTCTGTGAGCGCA-3′ 201 R: 5′-CACGTCCACAATTTGGAT-3′ CYP11B
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 1p13.1