Clinical characterization and analysis of the SRD5A2 gene in six korean patients with 5α-reductase type 2 deficiency

Hormone Research in Paediatrics

Volumn 73, Issue 1, 2010, Pages 41-48

  Ko, Jung Min ^a   Cheon, Chong Kun ^a   Kim, Gu Hwan ^a   Kim, Sung Hoon ^a   Kim, Kun Suk ^a   Yoo, Han Wook ^a  

^a University of Ulsan College of Medicine   (South Korea)

Author keywords

46 XY disorders of sex differentiation; 5 Reductase type 2 deficiency; Ambiguous genitalia; SRD5A2 gene

Indexed keywords

ANDROSTANOLONE; CHORIONIC GONADOTROPIN; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE;

5ALPHA REDUCTASE TYPE 2 DEFICIENCY; ADOLESCENT; AMBIGUOUS GENITALIA; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; DELAYED PUBERTY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; EXON; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENITAL MALFORMATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; SOUTH KOREA; TESTOSTERONE BLOOD LEVEL;

ADOLESCENT; ANDROGEN-INSENSITIVITY SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GONADAL DYSGENESIS, 46,XY; HERMAPHRODITISM; HUMANS; INFANT; KOREA; MALE; MEMBRANE PROTEINS; PUBERTY, DELAYED; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 77951436107     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000271915     Document Type: Article

References (27)

1. Jenkins EP, Andersson S, Imperato-McGinley J, Wilson JD, Russell DW: Genetic and pharmacological evidence for more than one human steroid 5α -reductase. J Clin Invest 1992; 89: 293-300.
2. Imperato-McGinley J, Zhu YS: Androgens and male physiology the syndrome of 5α -reductase-2 deficiency. Mol Cell Endocrinol 2002; 198: 51-59.
3. Sinnecker GH, Hiort O, Dibbelt L, Albers N, Dorr HG, Hauss H, Heinrich U, Hemminghaus M, Hoepffner W, Holder M, Schnabel D, Kruse K: Phenotypic classification of male pseudohermaphroditism due to steroid 5α -reductase 2 deficiency. Am J Med Genet 1996; 63: 223-230. (Pubitemid 26147447)
4. Nordenskjold A, Ivarsson SA: Molecular characterization of 5α -reductase type 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab 1998; 83: 3236-3238. (Pubitemid 28500965)
5. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE: Steroid 5α -reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 1974; 186: 1213-1215.
6. Imperato-McGinley J, Peterson RE, Gautier T, Sturla E: Male pseudohermaphroditism secondary to 5α -reductase deficiency - a model for the role of androgens in both the development of the male phenotype and the evolution of a male gender identity. J Steroid Biochem 1979; 11: 637-645. (Pubitemid 9248055)
7. Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, Stuchi-Perez EG, Guerra-Junior G: New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α -reductase deficiency type 2. J Mol Med 2005; 83: 569-576. (Pubitemid 41126073)
8. Wilson JD, Griffin JE, Russell DW: Steroid 5α -reductase 2 deficiency. Endocr Rev 1993; 14: 577-593.
9. Pang S, Levine LS, Chow D, Sagiani F, Saenger P, New MI: Dihydrotestosterone and its relationship to testosterone in infancy and childhood. J Clin Endocrinol Metab 1979; 48: 821-826. (Pubitemid 9172120)
10. Imperato-McGinley J, Peterson RE, Gautier T: Primary and secondary 5α -reductase deficiency; in Serio M, et al (eds): Sexual Differentiation: Basic and Clinical Aspects. New York, Raven Press, 1984, pp 1-233.
11. Sasaki G, Nakagawa K, Hashiguchi A, Hasegawa T, Ogata T, Murai M: Giant seminoma in a patient with 5α -reductase type 2 deficiency. J Urol 2003; 169: 1080-1081. (Pubitemid 36188165)
12. Canto P, Vilchis F, Chavez B, Mutchinick O, Imperato-McGinley J, Perez-Palacios G, Ulloa-Aguirre A, Mendez JP: Mutations of the 5α -reductase type 2 gene in eight Mexican patients from six different pedigrees with 5α -reductase-2 deficiency. Clin Endocrinol (Oxf) 1997; 46: 155-160. (Pubitemid 27122160)
13. Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russell DW: Molecular genetics of steroid 5α -reductase-2 deficiency. J Clin Invest 1992; 90: 799-809.
14. Kim SH, Kim KS, Kim GH, Kang BM, Yoo HW: A novel frameshift mutation in the 5α - reductase type 2 gene in Korean sisters with male pseudohermaphroditism. Fertil Steril 2006; 85: 750.e9-750.e12.
15. Imperato-McGinley J: 5α -Reductase-2 deficiency and complete androgen insensitivity: lessons from nature. Adv Exp Med Biol 2002; 511: 121-134.
16. Boehmer AL, Brinkmann AO, Nijman RM, Verleun-Mooijman MC, de Ruiter P, Niermeijer MF, Drop SL: Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5α -dihydrotestosterone availability. J Clin Endocrinol Metab 2001; 86: 1240-1246. (Pubitemid 32323011)
17. 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 5α -reductase deficiency. Eur J Pediatr 1996; 155: 445-451. (Pubitemid 26171578)
18. Morel Y, Rey R, Teinturier C, Nicolino M, Michel-Calemard L, Mowszowicz I, Jaubert F, Fellous M, Chaussain JL, Chatelain P, David M, Nihoul-Fekete C, Forest MG, Josso N: Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 2002; 161: 49-59. (Pubitemid 34031275)
19. Mazen I, Gad YZ, Hafez M, Sultan C, Lumbroso S: Molecular analysis of 5α -reductase type 2 gene in eight unrelated Egyptian children with suspected 5α -reductase deficiency: Prevalence of the G34R mutation. Clin Endocrinol (Oxf) 2003; 58: 627-631. (Pubitemid 36566806)
20. Russell DW, Berman DM, Bryant JT, Cala KM, Davis DL, Landrum CP, Prihoda JS, Silver RI, Thigpen AE, Wigley WC: The molecular genetics of steroid 5α -reductases. Recent Prog Horm Res 1994; 49: 275-284.
21. Thigpen AE, Davis DL, Gautier T, Imperato- McGinley J, Russell DW: The molecular basis of steroid 5α -reductase deficiency in a large Dominican kindred. N Engl J Med 1992; 327: 1216-1219.
22. Leshin M, Griffin JE, Wilson JD: Hereditary male pseudohermaphroditism associated with an unstable form of 5α -reductase. J Clin Invest 1978; 62: 685-691. (Pubitemid 9006439)
23. Fisher LK, Kogut MD, Moore RJ, Goebelsmann U, Weitzman JJ, Isaacs H Jr, Griffin JE, Wilson JD: Clinical, endocrinological, and enzymatic characterization of two patients with 5α -reductase deficiency: evidence that a single enzyme is responsible for the 5α -reduction of cortisol and testosterone. J Clin Endocrinol Metab 1978; 47: 653-664.
24. Nicoletti A, Baldazzi L, Balsamo A, Barp L, Pirazzoli P, Gennari M, Radetti G, Cacciari E, Cicognani A: SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects. Clin Endocrinol (Oxf) 2005; 63: 375-380. (Pubitemid 41442331)
25. Eunice M, Philibert P, Kulshreshtha B, Audran F, Paris F, Khurana ML, Pulikkanath PE, Kucheria K, Sultan C, Ammini AC: Molecular diagnosis of 5α -reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. Asian J Androl 2008; 10: 815-818.
26. Fernandez-Cancio M, Nistal M, Gracia R, Molina MA, Tovar JA, Esteban C, Carrascosa A, Audi L: Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. J Androl 2004; 25: 412-416. (Pubitemid 38509240)
27. 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:e11-e15.