Clinical, biological and genetic analysis of anorchia in 26 boys

PLoS ONE

Volumn 6, Issue 8, 2011, Pages

  Brauner, Raja ^a   Neve, Mathieu ^a   Allali, Slimane ^a   Trivin, Christine ^b   Lottmann, Henri ^b   Bashamboo, Anu ^c   McElreavey, Ken ^c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FOLLITROPIN; INHIBIN; INHIBIN B; LUTEINIZING HORMONE; MUELLERIAN INHIBITING FACTOR; TESTOSTERONE;

ANORCHIA; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL GENE; FAMILY HISTORY; GENETIC ANALYSIS; GENETIC VARIABILITY; HORMONE BLOOD LEVEL; HUMAN; INSULIN LIKE 3 GENE; KARYOTYPE 46,XY; LEUCINE RICH REPEAT CONTAINING G PROTEIN COUPLED RECEPTOR 8 GENE; MALE; MAMLD1 GENE; NR5A1 GENE; SEQUENCE ANALYSIS; SRY GENE; TESTIS TORSION; ADOLESCENT; CHILD; CONGENITAL MALFORMATION; FEMALE; GENETICS; GONADAL DYSGENESIS; INFANT; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; TESTIS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; GONADAL DYSGENESIS, 46,XY; HUMANS; INFANT; INFANT, NEWBORN; MALE; TESTIS;

EID: 80051530998     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0023292     Document Type: Article

References (28)

1. Abeyaratne MR, Aherne WA, Scott JES, (1969) The vanishing testis. Lancet 2: 822-824.
2. Sarto GE, Opitz JM, (1973) The XY gonadal agenesis syndrome. J Med Genet 10: 288-293.
3. Edman CD, Winters AJ, Porter JC, Wilson J, MacDonald PC, (1977) Embryonic testicular regression. A clinical spectrum of XY agonadal individuals. Obstet Gynecol 49: 208-217.
4. Bobrow M, Gough MH, (1970) Bilateral absence of testes. Lancet 1: 366.
5. Aynsley-Green A, Zachmann M, Illig R, Rampini S, Prader A, (1976) Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. Clin Endocrinol (Oxf) 5: 381-391.
6. Josso N, Briard ML, (1980) Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr 97: 200-204.
7. Zenaty D, Dijoud F, Morel Y, Cabrol S, Mouriquand P, et al. (2006) Bilateral anorchia in infancy: occurence of microphallus and the effect of testosterone treatment. J Pediatr 149: 687-691.
8. Naffah J, (1989) Familial testicular regression syndrome. Bull Acad Natl Med 173: 709-714.
9. De Grouchy J, Gompel A, Salomon-Bernard Y, Kuttenn F, Yaneva H, et al. (1985) Embryonic testicular regression syndrome and severe mental retardation in sibs. Ann Genet 28: 154-160.
10. Marcantonio SM, Fechner PY, Migeon CJ, Perlman EJ, Berkovitz GD, (1994) Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis. Am J Med Genet 49: 1-5.
11. Smith NM, Byard RW, Bourne AJ, (1991) Testicular regression syndrome-a pathological study of 77 cases. Histopathology 19: 269-272.
12. Ferlin A, Zuccarello D, Zuccarello B, Chirico MR, Zanon GF, et al. (2008) Genetic alterations associated with cryptorchidism. JAMA 300: 2271-2276.
13. Vinci G, Anjot MN, Trivin C, Lottmann H, Brauner R, et al. (2004) An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. J Clin Endocrinol Metab 89: 6282-6285.
14. Lobaccaro JM, Medlej R, Berta P, Belon C, Galifer RB, et al. (1993) PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. Clin Endocrinol (Oxf) 38: 197-201.
15. Zenteno JC, Jimenez AL, Canto P, Valdez H, Mendez JP, et al. (2001) Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue. Am J Med Genet 99: 244-247.
16. Parigi GB, Bardoni B, Avoltini V, Caputo MA, Bragheri R, (1999) Is bilateral congenital anorchia genetically determined? Eur J Pediatr Surg 9: 312-315.
17. Philibert P, Zenaty D, Lin L, Soskin S, Audran F, et al. (2007) Mutational analysis of steroidogenetic factor 1 (NR5α1) in 24 boys with bilateral anorchia: a French collaborative study. Hum Reprod 22: 3255-3261. Epub 2007 Oct 16.
18. Dumic M, Lin-Su K, Leibel NI, Ciglar S, Vinci G, et al. (2008) Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. J Clin Endocrinol Metab 93: 182-189. Epub 2007 Nov 13.
19. Lourenço D, Brauner R, Lin L, De Perdigo A, Weryha G, et al. (2009) Mutations in NR5A1 associated with ovarian insufficiency. N Engl J Med 360: 1200-1210.
20. Pierson M, Vidailhet M, Wuilbercq L, Wendremaire-Palandri Y, Combescure B, (1983) Le syndrome de régression testiculaire totale ou anorchidie. Arch Fr Pediatr 40: 767-773.
21. Rai M, Agrawal JK, Sasikumar V, Singh SK, (1994) Bilateral congenital anorchia in three sibling. Clin Pediatr (Phila) 33: 367-369.
22. Yerkes EB, Robertson FM, Gitlin J, Kaefer M, Cain MP, et al. (2005) Management of perinatal torsion: today, tomorrow or never? J Urol 174: 1579-1582.
23. Lee MM, Donahoe PK, Silverman BL, Hasegawa T, Hasegawa Y, et al. (1997) Measurements of serum mullerian inhibiting substance in the evaluation of children with nonpalpable gonads. N Engl J Med 336: 1480-1486.
24. Kubini K, Zachmann M, Albers N, Hiort O, Bettendorf M, et al. (2000) Basal inhibin B and the testosterone response to human chorionic gonadotropin correlate in prepubertal boys. J Clin Endocrinol Metab 85: 134-138.
25. Misra M, MacLaughlin DT, Donahoe PK, Lee MM, (2002) Measurement of Mullerian inhibiting substance facilitates management of boys with microphallus and cryptorchidism. J Clin Endocrinol Metab 87: 3598-602.
26. De Rosa M, Lupoli G, Mennitti M, Zarrilli S, Mirone V, et al. (1996) Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. Andrologia 28: 281-285.
27. Granat M, Amar A, Mor-Yosef S, Brautbar C, Schenker JG, (1983) Familial gonadal germinative failure: endocrine and human leukocytes antigen studies. Fertil Steril 40: 215-219.
28. Kennerknecht I, Sorgo W, Oberhoffer R, Teller WM, Mattfeldt T, et al. (1993) Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome. Am J Med Genet 47: 1166-1170.