The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5a reductase deficiency

Journal of Endocrinological Investigation

Volumn 33, Issue 11, 2010, Pages 810-814

  Skordis, N ^a,b   Neocleous, V ^b   Kyriakoui, A ^a   Efstathiou, E ^a   Sertedaki, A ^c   Philibert, P ^d   Phylactou, L A ^b   Lumbroso, S ^e   Sultan, C ^d  

^a Pediatric Endocrine Unit   (Cyprus)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^c UNIVERSITY OF ATHENS   (Greece)

^d LAPEYRONIE HOSPITAL   (France)

^e DEPARTMENT OF NEUROLOGY   (France)

Author keywords

46,XY disorders of sexual development (DSD); 5 reductase; Male pseudohermaphroditism; Mutations; SRD5A2 gene

Indexed keywords

CHORIONIC GONADOTROPIN; DIHYDROTACHYSTEROL; GENOMIC DNA; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE;

ADOLESCENT; AMBIGUOUS GENITALIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYPRUS; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENOMICS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; PRIMARY AMENORRHEA; RESTRICTION MAPPING; SOUTHERN EUROPE; STEROID 5ALPHA REDUCTASE DEFICIENCY; TESTOSTERONE BLOOD LEVEL;

EID: 79952668919     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.1007/bf03350347     Document Type: Article

References (31)

1. Blecher SR, Erickson RP. Genetics of sexual development: a new paradigm. Am J Med Genet A 2007, 143A: 3054-68. (Pubitemid 350274820)
2. Sultan C, Paris F, Terouanne B, et al. Disorders linked to insufficient androgen action in male children. Hum Reprod Update 2001, 7: 314-22. (Pubitemid 32440293)
3. Wilson JD, Griffin JE, Russell DW. Steroid 5 alpha-reductase 2 deficiency. Endocr Rev 1993, 14: 577-93.
4. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE. Steroid 5aipha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 1974, 186: 1213-5.
5. Sinnecker GH, Hiort O, Dibbelt L, et al. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha-reductase 2 deficiency. Am J Med Genet 1996, 63: 223-30.
6. Mendonca BB, Inacio M, Costa EM, et al. Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore) 1996, 75: 64-76.
7. Jenkins EP, Andersson S, Imperato-McGinley J, Wilson JD, Russell DW. Genetic and pharmacological evidence for more than one human steroid 5 alpha-reductase. J Clin Invest 1992, 89: 293-300.
8. Lumbroso S, Lobaccaro JM, Georget V, et al. A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. J Clin Endocrinol Metab 1996, 81: 1984-8. (Pubitemid 26152496)
9. Boudon C, Lobaccaro JM, Lumbroso S, et al. A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. Clin Endocrinol (Oxf) 1995, 43: 183-8.
10. Ocal G, Adiyaman P, Berberoglu M, et al. Mutations of the 5alpha-steroid reductase type 2 gene in six Turkish patients from unrelated families and a large pedigree of an isolated Turkish village. J Pediatr Endocrinol Metab 2002, 15: 411-21. (Pubitemid 34704807)
11. Thigpen AE, Davis DL, Milatovich A, et al. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest 1992, 90: 799-809.
12. Hiort O, Sinnecker GH, Willenbring H, Lehners A, Zollner A, Struve D. Nonisotopic single strand conformation analysis of the 5 alpha-reductase type 2 gene for the diagnosis of 5 alpha-reductase deficiency. J Clin Endocrinol Metab 1996, 81: 3415-8. (Pubitemid 26296226)
13. Ferraz LF, Mathias Baptista MT, Maciel-Guerra AT, Junior GG, Hackel C. New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency. Am J Med Genet 1999, 87: 221-5.
14. Vilchis F, Canto P, Chávez B, Ulloa-Aguirre A, Méndez JP. Molecular analysis of the 5 alpha-steroid reductase type 2 gene in a family with deficiency of the enzyme. Am J Med Genet 1997, 69: 69-72. (Pubitemid 27111183)
15. Hiort O, Schutt SM, Bals-Pratsch M, Holterhus PM, Marschke C, Struve D. A novel homozygous disruptive mutation in the SRD5A2-gene in a partially virilized patient with 5alpha-reductase deficiency. Int J Androl 2002, 25: 55-8. (Pubitemid 34146675)
16. Hochberg Z, Chayen R, Reiss N, et al. Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. J Clin Endocrinol Metab 1996, 81: 2821-7. (Pubitemid 26323872)
17. Canto P, Vilchis F, Chavez B, et al. Mutations of the 5 alpha-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5 alpha-reductase-2 deficiency. Clin Endocrinol (Oxf) 1997, 46: 155-60. (Pubitemid 27122160)
18. Nordenskjöld A, Ivarsson SA. Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab 1998, 83: 3236-8. (Pubitemid 28500965)
19. 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.e11-15.
20. Nicoletti A, Baldazzi L, Balsamo A, et al. SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. Clin Endocrinol (Oxf) 2005, 63: 375-80. (Pubitemid 41442331)
21. 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: 401-6.
22. Adiyaman PB, Ocal G, Cetinkaya E, et al. 5 alpha steroid reductase deficiency in Turkey. Pediatr Endocrinol Rev 2006, 3 (Suppl 3): 462-9. (Pubitemid 44745407)
23. Baldinotti F, Majore S, Fogli A, et al. Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency. J Androl 2008, 29: 20-8.
24. Russell DW, Berman DM, Bryant JT, et al. The molecular genetics of steroid 5 alpha-reductases. Recent Prog Horm Res 1994, 49: 275-84.
25. Andersson S, Berman DM, Jenkins EP, Russell DW. Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature 1991, 354: 159-61. (Pubitemid 21896802)
26. Choi JH, Kim GH, Seo EJ, Kim KS, Kim SH, Yoo HW. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development. J Pediatr Endocrinol Metab 2008, 21: 545-53.
27. Yiallouros PK, Neocleous V, Zeniou M, et al. Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom. Clin Genet 2007, 71: 290-2. (Pubitemid 46322671)
28. Dean G, Chamberlain S, Middleton L. Friedreich's ataxia in Kathikas-Arodhes, Cyprus. Lancet 1988, 1: 587.
29. Belguith H, Hajji S, Salem N, et al. Analysis of GJB2 mutation: evidence for a Mediterranean ancestor for the 35delG mutation. Clin Genet 2005, 68: 188-9. (Pubitemid 40990634)
30. Neocleous V, Aspris A, Shahpenterian V, et al. High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss. Genet Test 2006, 10: 285-9. (Pubitemid 46195155)
31. Skordis N, Patsalis PC, Bacopoulou I, Sismani C, Sultan C, Lumbroso S. 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect. J Pediatr Endocrinol Metab 2005, 18: 241-6. (Pubitemid 40425559)