5α-reductase 2 gene mutations in three unrelated patients of Greek cypriot origin: Identification of an ancestral founder effect

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 3, 2005, Pages 241-246

  Skordis, Nicos ^a,e   Patsalis, Philippos C ^b   Bacopoulou, Ioanna ^a   Sismani, Carolina ^b   Sultan, Charles ^c,d   Lumbroso, Serge ^c  

^a Archbishop Makarios III Hospital   (Cyprus)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^c LAPEYRONIE HOSPITAL   (France)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

^e Pediatric Endocrine Unit   (Cyprus)

Author keywords

5 reductase; Male pseudohermaphroditism; SRD5A2 gene

Indexed keywords

ANDROGEN RECEPTOR; ANDROSTANOLONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

ADULT; AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; ECHOGRAPHY; ENZYME DEFICIENCY; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENITAL SYSTEM; GONADECTOMY; GREECE; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE SYNTHESIS; HUMAN; INTRON; KARYOTYPE 46,XY; MALE PSEUDOHERMAPHRODITISM; MEDICAL DECISION MAKING; POPULATION RESEARCH; SEQUENCE ANALYSIS; STEROID 5ALPHA REDUCTASE DEFICIENCY; VIRILIZATION; CONGENITAL MALFORMATION; CYPRUS; FEMALE GENITAL SYSTEM; FOUNDER EFFECT; GENETICS; INFANT; KARYOTYPING; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PSEUDOHERMAPHRODITISM; RNA SPLICING;

ADULT; CYPRUS; DNA MUTATIONAL ANALYSIS; FEMALE; FOUNDER EFFECT; GENITALIA, FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KARYOTYPING; PEDIGREE; PHENOTYPE; PSEUDOHERMAPHRODITISM; RECEPTORS, ANDROGEN; RNA SPLICE SITES; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 15844374509     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.3.241     Document Type: Article

References (22)

1. Migeon CJ, Berkovitz, GD, Brown TR. Sexual differentiation and ambiguity. In: Kappy MS, Blizzard RM, Migeon CJ, eds. The Diagnosis and Treatment of Endocrine Disorders in Childhood and Adolescence. Springfield, IL: Charles C. Thomas, 1994; 573-681.
2. Sultan C, Paris F, Terrouanne B, Balaguer P, Georget V, Poujol N, Jeandel C, Lumbroso S, Nicolas J-C. Disorders linked to insufficient androgen action in male children. Hum Repro Update 2001; 7: 314-322.
3. Henkins EP, Anderson S, Imperato-McGinley J, Wilson JD, Russell DW. Genetic and pharmacological evidence for more than one human steroid 5α-reductase. J Clin Endocrinol Metab 1992; 89: 293-300.
4. Mendonca BB, Inacio M, Costa EM, Arnhold IJ, Silva FA, Nicolau W, Bloise W, Russel DW, Wilson JD. Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore) 1996; 75: 64-76.
5. Wilson JD, Griffin JE, Russell DW. Steroid 5α-reductase 2 deficiency. Endocr Rev 1993; 14: 577-593.
6. 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.
7. Sinneccer GH, Hiort O, Dibbelt L, Albers N, Dörr HG, Hauss H, Heinrich U, Hemminghous M, Hoepffer W, Holder M, Schnabel D, Kruse K. Phenotypic classification of male pseudohermaphroditism due to steroid 5 alpha reductase 2 deficiency. Am J Med Genet 1996; 63: 223-230.
8. Anderson S, Berman DM, Jenkins EP, Russell DW. Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism. Nature 1991; 354: 159-161.
9. 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.
10. Russel DW, Berman DM, Bryant JT, Wilson JD. The molecular genetics of steroid 5 alpha reductases. Rec Prog Horm Res 1994; 49: 275-284.
11. Lumbroso S, Lobaccaro JM, Georget V, Leger J, Poujol N, Terouanne B, Evainbrion D, Czernichow P, Sultan C. A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance. J Clin Endocrinol Metab 1996; 81: 1984-1988.
12. Boudon C, Lobaccaro JM, Lumbroso S, Ögur G, Öcal G, Belon C, Sultan C. A new deletion of the 5α-reductase type 2 gene in a Turkish family with 5α-reductase deficiency. Clin Endocrinol 1995; 43: 183-188.
13. Thigpen AE, Davis DL, Milatovich A, Mendonca BB, Imperato-McGinley J, Griffin JE, Francke U, Wilson JD, Russel DW. Molecular genetics of steroid 5α-reductase 2 deficiency. J Clin Invest 1992; 90: 799-809.
14. Hiort O, Sinnecker GHG, Willenbring H, Lehners A, Zollner A, Struve D. Nonisotopic single strand conformation analysis of the 5α-reductase type 2 gene for the diagnosis of 5α-reductase deficiency. J Clin Endocrinol Metab 1996; 81: 3415-3418.
15. Ferraz LFC, Baptista MTM, Maciel-Guerra AT, Guerra Junior G, Hackel C. New frameshift mutation in the 5α-reductase deficiency. Am J Med Genet 1999; 87: 221-225.
16. Vilchis F, Canto P, Chávez B, Ulloa-Aquirre A, Méndez JP. Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme. Am J Med Genet 1997; 69: 69-72.
17. Hiort O, Schütt SM, Bals-Pratsch M, Holterhus P-M, Marschke C, Struve D. A novel homozygous disruptive mutation in the SRD5A2 gene in a partially virilized patient with 5α-reductase deficiency. Int J Androl 2002; 25: 55-58.
18. Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, Farkas A, Goldfarb H, Ohana N, Hiort O. Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5α-reductase 2 deficiency. J Clin Endocrinol Metab 1996; 81: 2821-2827.
19. Canto P, Vilchis F, Chavez B, Mutchinick O, Imperato-McGinley J, Perez-Palacios G, Ulloa-Aguirre A, Mendez JP. Mutations of 5α-reductase type 2 gene in eight Mexican patients from six different pedigrees with 5α-reductase 2 deficiency. Clin Endocrinol 1997; 46: 155-160.
20. Öcal G, Adiyaman P, Berberoǧlu M, Çetinkaya E, Akar N, Uysal A, Duman T, Evliyaoǧlu, Aycan Z, Lumbroso S, Sultan C. 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: 411-421.
21. Nordeskjold A, Ivarsson SA. Molecular characterization of 5 alpha-reductase 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab 1998; 83: 3236-32368.
22. Saenger P, Goldman AS, Levine LS, Korth-Schutz S, Muecke EC, Katsumata M, Doberne Y, New MI. Prepubertal diagnosis of steroid 5 alpha-reductase deficiency. J Clin Endocrinol Metab 1978; 46: 627-634.