Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development

Molecular Human Reproduction

Volumn 17, Issue 1, 2011, Pages 57-62

  Nie, Min ^a   Zhou, Qi ^a,b   Mao, Jiangfeng ^a   Lu, Shuangyu ^a   Wu, Xueyan ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b THE FIRST AFFILIATED HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

Author keywords

46,XY disorders of sex development; 5 reductase type 2 deficiency; Ambiguous genitalia; Gene mutations; SRD5A2

Indexed keywords

GENOMIC DNA; STEROID 5ALPHA REDUCTASE 2;

ARTICLE; CHILD; CLINICAL ARTICLE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; PRIORITY JOURNAL; SEXUAL DEVELOPMENT;

3-OXO-5-ALPHA-STEROID 4-DEHYDROGENASE; 46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MUTATION; YOUNG ADULT;

EID: 78650397120     PISSN: 13609947     EISSN: 14602407     Source Type: Journal    
DOI: 10.1093/molehr/gaq072     Document Type: Article

References (22)

1. Canto P, Vilchis F, Chavez B, Mutchinick O, Imperato-McGinley J, Pérez-Palacios G, Ulloa-Aguirre A, Méndez JP. Mutations of the 5alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5alpha-reductase-2 deficiency. Clin Endocrinol 1997;46:155-160.
2. Cohen-Kettenis PT. Gender change in 46, XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 2005;34:399-410.
3. Faienza MF, Giordani L, Delvecchio M, Cavallo L. Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency. J Endocrinol Invest 2008;31:85-91.
4. Griffin JE, McPhaul MJ, Russell DW, Wilson JD. The androgen resistance syndromes: steroid 5a-reductase type 2 deficiency, testicular feminization and related disorders. In Scriver CR, Baudet AL, Sly W, Valle D (eds). The Metabolic and Molecular Basis of Inherited Diseases. New York, NY: McGraw-Hill, 2001, 4117-4146.
5. Hiort O, Willenbring H, Albers N, Hecker W, Engert J, Dibbelt L, Sinnecker GH. Molecular genetic analysis and human chorionic gonadotropin stimulation tests in the diagnosis of prepubertal patients with partial 5alpha-reductase deficiency. Eur J Pediatr 1996; 155:445-451.
6. Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5a-reductase-2 deficiency. Mol Cell Endocrinol 2002; 198:51-59.
7. Kim SH, Kim KS, Kim GH, Kang BM, Yoo HW. A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. Fertil Steril 2006;85:750.e9-750.e12.
8. Kossack N, Simoni M, Richter-Unruh A, Themmen AP, Gromoll J. Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. PLoS Med 2008;5:e88.
9. Makridakis NM, di Salle E, Reichardt JK. Biochemical and pharmacogenetic dissection of human steroid 5a-reductase type II. Pharmacogenetics 2000;10:407-413.
10. Mazen I, Hafez M, Mamdouh M, Sultan C, Lumbroso S. A novel mutation of the 5alpha-reductase type 2 gene in two unrelated Egyptian children with ambiguous genitalia. J Pediatr Endocrinol Metab 2003;16:219-224.
11. Nagaraja MR, Rastogi A, Raman R, Gupta DK, Singh SK. Molecular diagnosis of 46, XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene. J Pediatr Endocrinol Metab 2010;23:379-385.
12. Nordenskjöld A, Magnus O, Aagenaes O, Knudtzon J. Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations. Am J Med Genet 1998;80:269-272.
13. Rosa S, Steigert M, Lang-Muritano M, Lallemand D, Schoenle EJ, Biason-Lauber A. Clinical, genetic and functional characteristics of three novel CYP17A1 mutations causing combined 17alpha-hydroxylase/17,20-lyase deficiency. Horm Res Paediatr 2010; 73:198-204.
14. Sahakitrungruang T, Wacharasindhu S, Yeetong P, Snabboon T, Suphapeetiporn K, Shotelersuk V. Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. Fertil Steril 2008;90:2015.e11-2015.
15. Sasaki G, Nakagawa K, Hashiguchi A, Hasegawa T, Ogata T, Murai M. Giant seminoma in a patient with 5alpha-reductase type 2 deficiency. J Urol 2003;169:1080-1081.
16. Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW. Molecular genetics of steroid 5alpha-reductase deficiency. J Clin Invest 1992;90:799-809.
17. Vilchis F, Valdez E, Ramos L, Garcia R, Gomez R, Chavez B. Novel compound heterozygous mutations in the SRD5A2 gene from 46, XY infants with ambiguous external genitalia. J Hum Genet 2008; 53:401-406.
18. Vilchis F, Ramos L, Mendez JP, Benavides S, Canto P, Chavez B. Molecular analysis of the SRD5A2 in 46, XY subjects with incomplete virilization: the P212R substitution of the steroid 5{alpha}-reductase-2 may constitute an ancestral founder mutation in Mexican patients. J Androl 2009; [Epub ahead of print].
19. Wang Y, Li Q, Xu J, Liu Q, Wang W, Lin Y, Ma F, Chen T, Li S, Shen Y. Mutation analysis of five candidate genes in Chinese patients with hypospadias. Eur J Hum Genet 2004;12:706-712.
20. Wigley WC, Prihoda JS, Mowszowicz I, Mendonca BB, New MI, Wilson JD, Russell DW. Natural mutagenesis study of the human steroid 5alpha-reductase 2 isozyme. Biochemistry 1994;33:1265-1270.
21. Wilson JD, Griffin JE, Russell DW. Steroid 5a-reductase 2 deficiency. Endocr Rev 1993;14:577-593.
22. Wu X, Zhou Q, Mao J, Lu S, NieM. Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. Fertil Steril 2010;93:2076.e1-2074.