Minor Hypospadias: The "Tip of the Iceberg" of the Partial Androgen Insensitivity Syndrome

PLoS ONE

Volumn 8, Issue 4, 2013, Pages

  Kalfa, Nicolas ^a   Philibert, Pascal ^a   Werner, Ralf ^b   Audran, Françoise ^a   Bashamboo, Anu ^c   Lehors, Hélène ^d   Haddad, Myriam ^d   Guys, Jean Michel ^d   Reynaud, Rachel ^d   Alessandrini, Pierre ^e   Wagner, Kathy ^f   Kurzenne, Jean Yves ^f   Bastiani, Florence ^f   Bréaud, Jean ^f   Valla, Jean Stéphane ^f   Lacombe, Gérard Morisson ^g   Orsini, Mattea ^h   Daures, Jean Pierre ^h   Hiort, Olaf ^b   Paris, Françoise ^a   McElreavey, Kenneth ^c   Sultan, Charles ^a,i   more..

^a LAPEYRONIE HOSPITAL   (France)

^b UNIVERSITY OF LÜBECK   (Germany)

^c INSTITUT PASTEUR   (France)

^d TIMONE HOSPITAL   (France)

^e HÔPITAL NORD   (France)

^f UNIVERSITY HOSPITAL OF NICE   (France)

^g Hôpital Saint Jospeh   (France)

^h UNIV MONTPELLIER   (France)

ⁱ HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR;

ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CAUCASIAN; CHILD; COMPUTER MODEL; CONTROLLED STUDY; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HYPOSPADIAS; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MICROPENIS; MISSENSE MUTATION; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; NEWBORN; NUCLEOTIDE SEQUENCE; PROSPECTIVE STUDY; SCHOOL CHILD; SEQUENCE ANALYSIS; AMINO ACID SEQUENCE; ANIMAL; CHEMISTRY; COMPLICATION; GENETICS; HELA CELL LINE; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PENIS; PRESCHOOL CHILD; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; ANDROGEN-INSENSITIVITY SYNDROME; ANIMALS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; HELA CELLS; HUMANS; HYPOSPADIAS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PENIS; PROSPECTIVE STUDIES; RECEPTORS, ANDROGEN; SEQUENCE ALIGNMENT;

EID: 84876972707     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0061824     Document Type: Article

References (40)

1. Leung AK, Robson WL, (2007) Hypospadias: an update. Asian J Androl 9: 16-22.
2. Manson JM, Carr MC, (2003) Molecular epidemiology of hypospadias: review of genetic and environmental risk factors. Birth Defects Res A Clin Mol Teratol 67: 825-836.
3. Philibert P, Audran F, Pienkowski C, Morange I, Kohler B, et al. (2010) Complete androgen insensitivity syndrome is frequently due to premature stop codons in exon 1 of the androgen receptor gene: an international collaborative report of 13 new mutations. Fertil Steril 94: 472-476.
4. Sultan C, Paris F, Terouanne B, Balaguer P, Georget V, et al. (2001) Disorders linked to insufficient androgen action in male children. Hum Reprod Update 7: 314-322.
5. Deeb A, Mason C, Lee YS, Hughes IA, (2005) Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) 63: 56-62.
6. Nordenskjold A, Friedman E, Tapper-Persson M, Soderhall C, Leviav A, et al. (1999) Screening for mutations in candidate genes for hypospadias. Urol Res 27: 49-55.
7. Muroya K, Sasagawa I, Suzuki Y, Nakada T, Ishii T, et al. (2001) Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. Mol Hum Reprod 7: 409-413.
8. Wang Y, Li Q, Xu J, Liu Q, Wang W, et al. (2004) Mutation analysis of five candidate genes in Chinese patients with hypospadias. Eur J Hum Genet 12: 706-712.
9. Silver RI, Russell DW, (1999) 5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias. J Urol 162: 1142-1145.
10. Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, et al. (2011) Phenotypical, biological, and molecular heterogeneity of 5alpha-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab 96: 296-307.
11. Kalfa N, Cassorla F, Audran F, Oulad Abdennabi I, Philibert P, et al. (2011) Polymorphisms of MAMLD1 gene in hypospadias. J Pediatr Urol 7: 585-591.
12. Gottlieb B, Beitel LK, Nadarajah A, Paliouras M, Trifiro M, (2012) The androgen receptor gene mutations database: 2012 update. Hum Mutat 33: 887-894.
13. Cole C, Barber JD, Barton GJ, (2008) The Jpred 3 secondary structure prediction server. Nucleic Acids Res 36: W197-201.
14. Petersen B, Petersen TN, Andersen P, Nielsen M, Lundegaard C, (2009) A generic method for assignment of reliability scores applied to solvent accessibility predictions. BMC Struct Biol 9: 51.
15. Kelley LA, Sternberg MJ, (2009) Protein structure prediction on the Web: a case study using the Phyre server. Nat Protoc 4: 363-371.
16. Ramensky V, Bork P, Sunyaev S, (2002) Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30: 3894-3900.
17. Thomas PD, Kejariwal A, (2004) Coding single-nucleotide polymorphisms associated with complex vs. Mendelian disease: evolutionary evidence for differences in molecular effects. Proc Natl Acad Sci U S A 101: 15398-15403.
18. Kumar P, Henikoff S, Ng PC, (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4: 1073-1081.
19. Edery P, (2007) Etiological Aspects of Hypospadias. Dialogues in Pediatric Urology 28: 1-15.
20. Vottero A, Minari R, Viani I, Tassi F, Bonatti F, et al. (2012) Evidence for epigenetic abnormalities of the androgen receptor gene in foreskin from children with hypospadias. J Clin Endocrinol Metab 96: E1953-1962.
21. Bevan CL, Brown BB, Davies HR, Evans BA, Hughes IA, et al. (1996) Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. Hum Mol Genet 5: 265-273.
22. Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, et al. (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16: 271-321.
23. Hiort O, Holterhus PM, Horter T, Schulze W, Kremke B, et al. (2000) Significance of mutations in the androgen receptor gene in males with idiopathic infertility. J Clin Endocrinol Metab 85: 2810-2815.
24. Bhangoo A, Paris F, Philibert P, Audran F, Ten S, et al. (2010) Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis. Asian J Androl 12: 561-566.
25. Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, et al. (2010) Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. J Clin Endocrinol Metab 95: 1876-1888.
26. Lund A, Juvonen V, Lahdetie J, Aittomaki K, Tapanainen JS, et al. (2003) A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men. Fertil Steril 79 (Suppl 3):: 1647-1648.
27. Zuccarello D, Ferlin A, Vinanzi C, Prana E, Garolla A, et al. (2008) Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. Clin Endocrinol (Oxf) 68: 580-588.
28. Ferlin A, Vinanzi C, Garolla A, Selice R, Zuccarello D, et al. (2006) Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. Clin Endocrinol (Oxf) 65: 606-610.
29. Aho MO, Tammela OK, Somppi EM, Tammela TL, (2000) Sexual and social life of men operated in childhood for hypospadias and phimosis. A comparative study. Eur Urol 37: 95-100.
30. Bracka A, (1989) A long-term view of hypospadias. Br J Plast Surg 42: 251-255.
31. Thonneau PF, Gandia P, Mieusset R, (2003) Cryptorchidism: incidence, risk factors, and potential role of environment; an update. J Androl 24: 155-162.
32. Mieusset R, Bujan L, Massat G, Mansat A, Pontonnier F, (1995) Clinical and biological characteristics of infertile men with a history of cryptorchidism. Hum Reprod 10: 613-619.
33. Asklund C, Jensen TK, Main KM, Sobotka T, Skakkebaek NE, et al. (2009) Semen quality, reproductive hormones and fertility of men operated for hypospadias. Int J Androl 33: 80-87.
34. Rey RA, Codner E, Iniguez G, Bedecarras P, Trigo R, et al. (2005) Low risk of impaired testicular Sertoli and Leydig cell functions in boys with isolated hypospadias. J Clin Endocrinol Metab 90: 6035-6040.
35. Slama R, Eustache F, Ducot B, Jensen TK, Jorgensen N, et al. (2002) Time to pregnancy and semen parameters: a cross-sectional study among fertile couples from four European cities. Hum Reprod 17: 503-515.
36. Guzick DS, Overstreet JW, Factor-Litvak P, Brazil CK, Nakajima ST, et al. (2001) Sperm morphology, motility, and concentration in fertile and infertile men. N Engl J Med 345: 1388-1393.
37. Jugenburg I, Kipikasa A, (1988) Fertility in patients with hypospadias. Acta Chir Plast 30: 86-93.
38. Dean A, Smith LB, Macpherson S, Sharpe RM, (2012) The effect of dihydrotestosterone exposure during or prior to the masculinization programming window on reproductive development in male and female rats. Int J Androl 35: 330-339.
39. Gottlieb B, Beitel LK, Wu JH, Trifiro M, (2004) The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat 23: 527-533.
40. He B, Kemppainen JA, Wilson EM, (2000) FXXLF and WXXLF sequences mediate the NH2-terminal interaction with the ligand binding domain of the androgen receptor. J Biol Chem 275: 22986-22994.