Loss of cytochrome P450 17A1 protein expression in a 17α-hydroxylase/ 17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene

Endocrine Pathology

Volumn 20, Issue 4, 2009, Pages 249-255

  Nájera, Nayelli ^a   Garibay, Nayely ^b   Pastrana, Yadira ^b   Palma, Icela ^a   Peña, Yolanda Rocio ^b   Pérez, Javier ^a   Coyote, Ninel ^b   Hidalgo, Alberto ^a   Kofman Alfaro, Susana ^a   Queipo, Gloria ^a  

^a HOSPITAL GENERAL DE MÉXICO   (Mexico)

^b HOSPITAL INFANTIL DE MÉXICO FEDERICO GÓMEZ   (Mexico)

Author keywords

17 hydroxylase deficiency; Congenital adrenal hyperplasia; CYP17A1 mutations; XY DSD

Indexed keywords

CYTOCHROME P450 17; CYTOCHROME P450 17A1; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE; UNCLASSIFIED DRUG;

17 ALPHA HYDROXYLASE DEFICIENCY; 17,20 LYASE DEFICIENCY; ADOLESCENT; ARTICLE; CASE REPORT; CONTROLLED STUDY; DELAYED PUBERTY; DISORDERS OF STEROID METABOLISM; ENZYME INACTIVATION; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENE STRUCTURE; HETEROZYGOSITY; HISPANIC; HUMAN; HUMAN TISSUE; HYPERTENSION; IMMUNOHISTOCHEMISTRY; KARYOTYPE 46,XY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIMARY AMENORRHEA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN SYNTHESIS INHIBITION; SEQUENCE ANALYSIS; TESTIS;

ACANTHOSIS NIGRICANS; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADRENOCORTICOTROPIC HORMONE; BASE SEQUENCE; DNA; ESTRADIOL; FOLLICLE STIMULATING HORMONE; GONADAL DYSGENESIS; HETEROZYGOTE; HUMANS; HYDROCORTISONE; LUTEINIZING HORMONE; MALE; MUTATION; PHENOTYPE; PUBERTY; STEROID 17-ALPHA-HYDROXYLASE; TESTIS; TESTOSTERONE;

EID: 70449527540     PISSN: 10463976     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12022-009-9088-9     Document Type: Article

References (24)

1. EL Van Den Akker JW Koper AL Boehmer AP Themmen M Verhoef-Post MA Timmerman, et al. 2002 Differential inhibition of 17b-hydroxylase and 17, 20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency J Clin Endocrinol Metab 87 5714 5721 10.1210/jc.2001-011880 (Pubitemid 36034381)
2. MI New 1970 Male pseudohermaphroditism due to 17alpha-hydroxylase deficiency J Clin Invest 49 1930 1941 10.1172/JCI106412 1:CAS:528: DyaE3MXhtFWiuw%3D%3D 5456802
3. RJ Auchus 2001 The genetics, pathophysiology, and management of human deficiencies of P450c17 Endocrinol Metab Clin North America 30 101 119 10.1016/S0889-8529(08)70021-5 1:CAS:528:DC%2BD3MXjvVamsb8%3D
4. A Di Cerbo A Biason-Lauber M Savino MR Piemontese A Di Giorgio M Perona, et al. 2002 Combined 17alpha-hydroxylase/17, 20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene J Clin Endocrinol Metab 87 898 905 10.1210/jc.87.2.898 11836339 (Pubitemid 34158270)
5. N Katsumata M Satoh A Mikami S Mikami A Nagashima-Miyokawa N Sato, et al. 2001 New compound heterozygous mutation in the CYP17 gene in a 46, XY girl with 17alpha-hydroxylase/17, 20-lyase deficiency Horm Res 55 141 146 10.1159/000049986 1:CAS:528:DC%2BD3MXntlentLg%3D 11549876 (Pubitemid 32843160)
6. CW Lam W Arlt CK Chan JW Honour CJ Lin SF Tong, et al. 2001 Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17alpha-hydroxylase deficiency Mol Genet Metab 72 254 259 10.1006/mgme.2000.3134 1:CAS:528:DC%2BD3MXhslSnurg%3D 11243732 (Pubitemid 34171443)
7. Y Takeda T Yoneda M Demura K Furukawa H Koshida I Miyamori, et al. 2001 Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency Clin Endocrinol (Oxf) 54 751 758 10.1046/j.1365-2265.2001.01272.x 1:CAS:528:DC%2BD3MXls1Oht7w%3D (Pubitemid 34208886)
8. DH Geller RJ Auchus BB Mendonça WL Miller 1997 The genetic and functional basis of isolated 17, 20-lyase deficiency Nat Genet 17 201 205 10.1038/ng1097-201 1:CAS:528:DyaK2sXmsFantLo%3D 9326943
9. T Yanase ER Simpson MR Waterman 1991 17alpha-hydroxylase/17, 20-lyase deficiency: from clinical investigation to molecular definition Endocr Rev 12 91 108 10.1210/edrv-12-1-91 1:CAS:528:DyaK3MXltFWlur8%3D 2026124
10. M Costa-Santos CE Kater RJ Auchus 2004 Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hidroxylase deficiency J Clin Endocrinol Metab 89 49 60 10.1210/jc.2003-031021 1:CAS:528:DC%2BD2cXmvFeksQ%3D%3D 14715827 (Pubitemid 38183859)
11. GS Won CY Chiu YC Tso SF Jenq PS Cheng TS Jap 2007 A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17, 20- lyase) gene in a Chinese subject with congenital adrenal hyperplasia Metabolism 56 504 507 10.1016/j.metabol.2006.11.009 1:CAS:528:DC%2BD2sXjsVCjtrk%3D 17379008 (Pubitemid 46427847)
12. RM Martin CJ Lin EM Costa ML de Oliveira A Carrilho H Villar CA Longui BB Mendonca 2003 P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping J Clin Endocrinol Metab 88 5739 5746 10.1210/jc.2003-030988 1:CAS:528:DC%2BD3sXhtVSgsrzO 14671162 (Pubitemid 38033044)
13. J Yang B Cui S Sun T Shi S Zheng Y Bi, et al. 2006 Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17, 20 lyase-deficiency patients with five novel mutations of CYP17A1 gene J Clin Endocrinol Metab 91 3619 3625 10.1210/jc.2005-2283 1:CAS:528:DC%2BD28Xpslaju7o%3D 16772352 (Pubitemid 44402146)
14. K Müssig S Kaltenbach F Machicao C Maser-Gluth MF Hartmann SA Wudy, et al. 2005 17α-Hydroxylase/17, 20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 Gene J Clin Endocrinol Metab 90 4362 4365 10.1210/jc.2005-0136 15811924 (Pubitemid 41058220)
15. K Miura K Yasuda T Yanase N Yamakita H Sasano H Nawata, et al. 1996 Mutations of cytochrome P-45017 alpha gene (CYP17) in Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism with a review of Japanese patients with mutations of CYP17 J Clin Endocrinol Metab 81 3797 3801 10.1210/jc.81.10.3797 1:CAS:528:DyaK28XmtlClsr4%3D 8855840 (Pubitemid 26339956)
16. JQ Wei JL Wei WC Li YS Bi FC Wei 2006 Genotyping of five Chinese patients with 17α-hydroxylase deficiency diagnosed through high performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations J Clin Endocrinol Metab 91 3647 3653 10.1210/jc.2006-0153 1:CAS:528:DC%2BD28Xpslaju7c%3D 16822828 (Pubitemid 44402150)
17. A Bhangoo J Aisenberg A Chartoffe S Ten RJ Wallerstein R Wolf, et al. 2008 Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17, 20-lyase deficiency J Pediatr Endocrinol Metab 21 185 190 1:CAS:528:DC%2BD1cXltlKnsbk%3D 18422032
18. F Riepe S Tatzel WG Sippell J Pleiss N Krone 2006 Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice Endocrinology 146 2563 2574 10.1210/en.2004-1563
19. RJ Auchus WL Miller 1999 Molecular modeling of human P450c17 (17 alphahidroxylase/17, 20-lyase: insights into reaction mechanisms and effects of mutations Mol Endocrinol 13 1169 1182 10.1210/me.13.7.1169 1:CAS:528: DyaK1MXktFKgtrw%3D 10406467
20. CE Fardella LH Zhang P Mahachoklertwattana D Lin WL Miller 1993 Deletion of amino acids Asp487-Ser488-Phe489 in human cytochrome P450c17 causes severe 17alpha-hydroxylase deficiency J Clin Endocrinol Metab 77 489 493 10.1210/jc.77.2.489 1:CAS:528:DyaK3sXmt1entrs%3D 8345056 (Pubitemid 23230063)
21. T Imai T Yanase MR Waterman ER Simpson JJ Pratt 1992 Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency Hum Genet 89 95 96 10.1007/BF00207050 1:CAS:528:DyaK38XlvV2msrg%3D 1577471
22. Y Chen WP Belleamy MC Seabra MC Field EA Bassam 2005 ER-associated protein degradation is a common mechanisms underpinning numerous monogenic disease including Robinow syndrome Hum Mol Genet 14 2559 2569 10.1093/hmg/ddi259 1:CAS:528:DC%2BD2MXos1ChtLs%3D 16049033 (Pubitemid 41236068)
23. S Ishii H Chang K Kawasaki K Yusuda H Wu S Garman, et al. 2007 Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimcycin J Biochem (Tokyo) 406 285 295 1:CAS:528:DC%2BD2sXovFKmurc%3D
24. M Gallagher L Ding A Maheshwari R Macdonald 2007 The GABAa receptor α1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteosomal degradation Proc Natl Acad Sci USA 104 12999 13004 10.1073/pnas.0700163104 1:CAS:528:DC%2BD2sXpt1KrtLc%3D 17670950 (Pubitemid 351737582)