Early manifestations of testicular dysgenesis in children: Pathological phenotypes, karyotype correlations and precursor stages of tumour development

APMIS

Volumn 111, Issue 1, 2003, Pages 12-24

  Chemes, Héctor E ^a   Muzulin, Patricia M ^a   Venara, Marcela C ^a   Muhlmann, María Del Carmen ^b   Martínez, Macarena ^c   Gamboni, Mercedes ^c   Giwercman, Aleksander ^d   Looijenga, Leendert ^d   Von Eyben, Finn Edler ^d   McElreavey, Ken ^d  

^a Centro de Investigaciones Endocrinologicas   (Argentina)

^b National Atomic Commission   (Argentina)

^c Sanatorio Mater Dei   (Argentina)

^d Hospital de Niños ^*

Author keywords

Carcinoma in situ; FISH; Male pseudohaermaphroditism; Mixed gonadal dysgenesis; Ovotestis; Ploidy; Streak gonads; Streak testis; Testicular dysgenesis; True haermaphroditism

Indexed keywords

ANDROGEN;

ANEUPLOIDY; CARCINOGENESIS; CARCINOMA IN SITU; CELL DIFFERENTIATION; CHILD; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CONFERENCE PAPER; CYTOLOGY; DEL CASTILLO SYNDROME; DENSITOMETRY; DNA DETERMINATION; FETUS CELL; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GERM CELL; GONAD DEVELOPMENT; GONADAL DYSGENESIS; HISTOGRAM; HISTOPATHOLOGY; HUMAN; KARYOTYPE; KARYOTYPE 46,XY; MALE PSEUDOHERMAPHRODITISM; MALIGNANT TRANSFORMATION; PHENOTYPE; POLYPLOIDY; PRIORITY JOURNAL; SEMINIFEROUS TUBULE; SEX CHROMOSOME; SEX DETERMINATION; SEX DIFFERENTIATION; SRY GENE; STROMA; TUMOR GROWTH; TUNICA ALBUGINEA;

CHILD; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; DENSITOMETRY; DNA; GONADAL DYSGENESIS; HERMAPHRODITISM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHENOTYPE; PRECANCEROUS CONDITIONS; PSEUDOHERMAPHRODITISM; TESTICULAR NEOPLASMS; TESTIS;

EID: 0037996690     PISSN: 09034641     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0463.2003.1110104.x     Document Type: Conference Paper

References (45)

1. Davis RM. Localization of male determining factors in man. A thorough review of structural anomalies of the Y chromosome. J Med Genet 1981;18:161-95.
2. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, et al. A gene from the human sex determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 1990;346:240-4.
3. Rey R. Intersex disorders: biochemical and molecular diagnosis In: Robaire B, Chemes H, Morales CR, editors. Andrology in the 21st century, Medimond Medical Publications, Montreal, 2001:383-93.
4. Doménech Mateu JM. Development of the genital tract. In: Martínez-Mora J, editors. Textbook Intersexual States. Disorders of sex differentiation. Doyma S.A. Barcelona, 1994:39-59.
5. Bergadá C, Coco R, Santamarina A, Chemes H. Variants of sexual differentiation in relation to sex chromosomal aberrations. In: Illig R, Visser HKA, editors. Pediatric Endocrinology 1986. Acta Endocr (Copenhagen), 1986;Suppl 279:183-7.
6. Bergadá C, Chemes H, Coco R. Dysgenetic Male Pseudohermaphroditism. In: Martínez-Mora J, editors. Textbook Intersexual States. Disorders of sex differentiation. Doyma S.A. Barcelona, 1994:291-3.
7. Bergadá C, Cleveland WW, Jones HW, Wilkins L. Gonadal histology in patients with male pseudohermaphroditism and atypical gonadal dysgenesis: Relations to theories of sex differentiation. Acta Endocr 1962;40:493-520.
8. Sohval AR. Mixed gonadal dysgenesis: a variety of hermaphroditism. Am J Hum Genet 1963;15:155-63.
9. Robboy SJ, Miller T, Donahoe PK, Jahre K, Welch WR, Haseltine FP, et al. Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis. Hum Pathol 1982;13:700-16.
10. Nagamine CM, Morohashi K, Carlisle C, Chang DK. Sex reversal caused by Mus musculus domesticus Y chromosome linked to variant expression of the testis-determining gene Sry. Dev Biol 1999;216:182-94.
11. Swain A, Narvaez S, Burgoyne P Camerino G, Lovell-Badge R. Dax1 antagonizes Sry action in mammalian sex determination. Nature 1998;391:761-7.
12. Foster JW, Dominguez Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an Sry-related gene. Nature 1994;372:525-30.
13. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, et al. Autosomic sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994;79:1111-20.
14. Gallo G, Chemes HE. The association of Wilms' tumor, male pseudohermaphroditism and diffuse glomerular disease: report of 8 cases with clinical and morphologic findings, and review of the literature. Ped Pathol 1987;7:175-89.
15. Van Heyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G, et al. Role for the Wilms tumor gene in genital development. Proc Natl Acad Sci USA 1990;87:5383-6.
16. Perez-Palacios G, Kofmans, Mendez JP, Ulloa-Aguirre A. True hermaphroditism. In: Martínez-Mora J, editor. Textbook Intersexual States. Disorders of sex differentiation. Doyma S.A. Barcelona, 1994:253-68.
17. Cho NH, Han MD, HA MJ. Sry gene detection in gonads of intersex patients using FISH. JKMS 1997;12:204-9.
18. Ragg S, Harle M, Scherthan H. Analysis of sex chromosome distribution in the gonadal tissue of a 45,X/47,XXY mosaic by Fluorescence In Situ Hybridization. Modern Pathlogy 1995;8:295-8.
19. Coco R, Chemes HE, Bergadá C. Asymmetrical Gonadal Differentiation and Gonadoblastoma. Acta Endocrinol 1975;80:753-60.
20. Bergadá C, Coco R, Chemes H. Asymmetric Gonadal Differentiation. In: Martínez-Mora J, editor Textbook Intersexual States. Disorders of sex differentiation. Doyma S.A. Barcelona, 1994:283-9.
21. Ferguson Smith MA. XY chromosomal interchange in the etiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 1966;ii:475-6.
22. De la Chapelle A, Tippett PA, Wetterstrand G, Page D. Genetic evidence of X-Y interchange in a human XX male. Nature 1984;307:170-1.
23. Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, et al. Familiar case of 46,XX male and 46,XX true hermaphrodite associated to a paternal-derived SRY-bearing X chromosome. C R Acad Sci Paris 1993;316:375-83.
24. Kuhnle U, Schwarz HP, Loohrs U, Stengel-Ruthkowski S, Cleve H, Braun A. Familial true hermaphroditism: Paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences. Hum Genet 1993;92:571-6.
25. Hiort O, Gramss B, Klauber GT. True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene. J Pediatr 1995;126:1022.
26. Skakkebæk NE. Possible carcinoma in situ of the testis. Lancet 1972;ii:516-7.
27. Skakkebæk NE, Berthelsen JG, Giwercman A, Müller J. Carcinoma in situ of the testis: Possible origin from gonocytes and precursor of all types of germ cell tumours except spermatocytoma. Int J Androl 1987;10:19-28.
28. Müller J, Skakkebæk NE, Ritzén M, Ploen L, Petersen KE. Carcinoma in situ of the testis in children with 45,X/46,XY gonadal dysgenesis. J Pediatr 1985;106:431-6.
29. Savage MO, Lowe DG. Gonadal neoplasia and abnormal sexual differentiation. Clin Endocrinol (Oxf) 1990;32:519-33.
30. Slowikowska-Hilczer J, Walczak-Jedrzejowska R, Kula K. Immunohistochemical diagnosis of pre-invasive germ cell cancer of the testis. Folia Histochem Cytobiol 2001;39:67-72.
31. Rajpert De Meyts E, Jørgensen N, Brøndum-Nielsen K, Müller J, Skakkebæk NE. Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia. In: Rajpert-De Meyts E, Grigor KM, Skakkebæk NE, editors. Neoplastic transformation of testicular cells. APMIS 1998;106:198-206.
32. Vorechovsky J, Mazanec K. Is isochromosome i(12p) present in gonadal precancerous tissue? Neoplasma 1989;36:697-700.
33. Clausen OP, Giwercman A, Jørgensen N, Bruun E, Frimodt-Møller C, Skakkebæk NE. DNA distributions in maldescended testes: hyperdiploid aneuploidy without evidence of germ cell neoplasia. Cytometry 1991;12:77-81.
34. Chaganti RSK, Houldsworth J. The cytogenetic theory of the pathogenesis of human adult male germ cell tumours. In: Rajpert-De Meyts E, Grigor KM, Skakkebæk NE, editors. Neoplastic transformation of testicular cells. APMIS 1998;106:80-4.
35. Slowikowska-Hilczer J. Nuclear DNA content and proliferative potential of human carcinoma in situ cells in testes of intersex children. Folia Histochem Cytobiol 2001;39:167-8.
36. Rajpert-De Meyts E, Kvist M, Skakkebæk NE. Heterogeneity of expression of immunohistochemical tumour markers in testicular carcinoma in situ: pathogenetic relevance. Virchows Arch 1996;428:133-9.
37. Jørgensen N, Müller J, Giwercman A, Visfeldt J, Møller H, Skakkebæk NE. DNA content and expression of tumour markers in germ cells adjacent to germ cell tumours in childhood: probably a different origin for infantile and adolescent germ cell tumours. J Pathol 1995;176:264-78.
38. Hawkins E, Heifetz SA, Giller L, Cushing B. The prepubertal testis (prenatal and postnatal): its relationship to intratubular germ cell neoplasia: a combined Pediatric Oncology Group and Children's Cancer Study Group. Hum Pathol 1997;4:404-10.
39. Müller J, Skakkebæk NE. Abnormal germ cells in maldescended testes: a study of cell density, nuclear size and deoxyribonucleic acid content in testicular biopsies from 50 boys. J Urol 1984;131:730-3.
40. Mancini RE, Narbaitz R, Lavieri JC. Origin and development of the germinal epithelium and Sertoli cells in the human testis: Cytological, cytochemical and quantitative study. Anat Record 1960;136:477-83.
41. Pugh RC, editor. Pathology of the Testis, Oxford: Blackwell, 1976.
42. Bergadá C, Cleveland WW, Jones HW, Wilkins L. Variants of embryonic testicular dysgenesis: bilateral anorchia andRelations to theories of sex differentiation. Acta Endocr 1962;40:493-520.
43. Bergada C, Gottlieb S, Chemes HE. Management of Cryptorchidism during childhood. In: Oshima H, Burger H, editors. Current Topics in Andrology. Toyo Shobou Co Ltd. Tokyo, 1993:224-9.
44. Venara MC, Rey R, Bergadá I, Mendilaharzu H, Campo S, Chemes HE. Sertoli Cell Proliferations of the Infantile Testis. An Intratubular form of Sertoli cell Tumor? Am J Surg Pathol 2001;25:1237-44.
45. Skakkebæk NE, Rajpert-De Meyts E, Main KM. Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001;16:972-8.