Subtle 17α-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman

Journal of Clinical Endocrinology and Metabolism

Volumn 90, Issue 5, 2005, Pages 2508-2511

  Taniyama, Matsuo ^a,b   Tanabe, Makito ^b   Saito, Hiroshi ^a   Ban, Yoshio ^b   Nawata, Hajime ^c   Yanase, Toshihiko ^c  

^a SHOWA UNIVERSITY FUJIGAOKA HOSPITAL   (Japan)

^b SHOWA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROSTENEDIONE; CORTICOSTEROID; CORTICOTROPIN; CYTOCHROME P450C17; ESTRADIOL; FOLLITROPIN; GENOMIC DNA; HYDROCORTISONE; LUTEINIZING HORMONE; PRASTERONE SULFATE; PROGESTERONE; RENIN; STEROID 17,20 LYASE; STEROID 17ALPHA MONOOXYGENASE;

ADULT; ANIMAL CELL; ARTICLE; BLOOD PRESSURE; BREAST DEVELOPMENT; CASE REPORT; CELL STRAIN COS1; CONTROLLED STUDY; CORTICOSTEROID BLOOD LEVEL; CYP17 GENE; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FEMALE INFERTILITY; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPOKALEMIA; MENARCHE; MENSTRUATION; NONHUMAN; PLASMA RENIN ACTIVITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEXUAL DEVELOPMENT; SITE DIRECTED MUTAGENESIS; ENZYMOLOGY; GENETICS; MUTATION;

ADULT; FEMALE; HUMANS; INFERTILITY, FEMALE; MUTATION; STEROID 17-ALPHA-HYDROXYLASE;

EID: 18844381595     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-2067     Document Type: Article

References (27)

1. Biglieri EG, Herron MA, Brust N 1966 17-Hydroxylation deficiency in man. J Clin Invest 45:1946-1954
2. Yanase T, Simpson ER, Waterman MR 1991 17α-Hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 12:91-108
3. Kater CE, Biglieri EG 1994 Disorders of steroid 17/7alpha;-hydroxylase deficiency. Endocrinol Metab Clin North Am 23:341-357
4. Auchus RJ 2001 The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am 30:101-119
5. Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR 1988 Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency. Mol Endocrinol 2:564-570
6. C21. DNA 6:439-448
7. Nagamani M, Dinh TV 1986 17α-Hydroxylase deficiency in genetic females. A report of two cases. J Reprod Med 31:734-738
8. New MI 1970 Male pseudohermaphroditism due to 17α-hydroxylase deficiency. J Clin Invest 49:1930-1941
9. Dean HJ, Shackleton CH, Winter JS 1984 Diagnosis and natural history of 17-hydroxylase deficiency in a newborn male. J Clin Endocrinol Metab 59:5137-520
10. Ahlgren R, Yanase T, Simpson ER, Winter JS, Waterman MR 1992 Compound heterozygous mutations (Arg 239→stop, Pro 342→Thr) in the CYP17 (P45017α) gene lead to ambiguous external genitalia in a male patient with partial combined 17α-hydroxylase/17,20-lyase deficiency. J Clin Endocrinol Metab 74:667-672
11. Miura K, Yasuda K, Yanase T, Yamakita N, Sasano H, Nawata H, Inoue M, Fukaya T, Shizuta Y 1996 Mutation of cytochrome P-45017α gene (CYP17) in a 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
12. Singhellakis PN, Panidis D, Papadimas J, Demertzi H, Tsourdis A, Sotsiou F, Ikkos DG 1986 Spontaneous sexual development and menarche in a female with 17α-hydroxylase deficiency. J Endocrinol Invest 9:177-183
13. Lin D, Harikrishna JA, Moore CCD, Jones KL, Miller WL 1991 Missense mutation serine106→proline causes 17α-hydroxylase deficiency. J Biol Chem 266:15992-15998
14. 17α results in partial combined 17α-hydroxylase/17, 20-lyase deficiency. J Biol Chem 264:18076-18082
15. Auchus RJ, Miller WL 1999 Molecular modeling of human P450c17 (17α-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations. Mol Endocrinol 13:1169-1182
16. Yanase T 1995 17α-Hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol 53:153-157
17. Laflamme N, Leblanc JF, Mailloux J, Faure N, Labrie F, Simard J 1996 Mutation R96W in cytochrome P450c17 gene causes combined 17α-hydroxylase/ 17-20-lyase deficiency in two French Canadian patients. J Clin Endocrinol Metab 81:264-268
18. Geller DH, Auchus RJ, Mendonca BB, Miller WL 1997 The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet 17:201-205
19. 5. Mol Endocrinol 13:167-175
20. Kaneko E, Kobayashi Y, Yasukochi Y, Kishi Y, Numano F 1994 Genomic analysis of two siblings with 17α-hydroxylase deficiency and hypertension. Hypertens Res 17:143-147
21. Oshiro C, Takasu N, Wakugami T, Komiya I, Yamada T, Eguchi Y, Takei H 1995 Seventeen α-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. J Clin Endocrinol Metab 80:2526-2529
22. Katayama Y, Kado S, Wada S, Nemoto Y, Kugai N, Furuya K, Nagata N 1994 A case of 17α-hydroxylase deficiency with retained menstruation. Endocr J 41:213-218
23. Satoh J, Kuroda Y, Nawata H, Yanase T 1998 Molecular basis of hypokalemic myopathy caused by 17α-hydroxylase/17,20-lyase deficiency. Neurology 51:1748-1751
24. Levran D, Ben-Shlomo I, Pariente C, Dor J, Mashiach S, Weissman A 2003 Familial partial 17,20-desmolase and 17α-hydroxylase deficiency presenting as infertility. J Assist Reprod Genet 20:21-28
25. Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group 2004 Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 89:49-60
26. Neuwinger J, Licht P, Munzer B, Sir-Petermann T, Siebzehnrubl E, Wildt L 1996 Substitution with testosterone as aromatizable substrate for induction of follicular maturation, estradiol production and ovulation in a patient with 17α-hydroxylase deficiency. Exp Clin Endocrinol Diabetes 104:400-408
27. Martin RM, Lin CJ, Costa EM, de Oliveira ML, Carrilho A, Villar H, Longui CA, Mendonca BB 2003 P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab 88:5739-5746