Complete androgen insensitivity syndrome: Factors influencing gonadal histology including germ cell pathology

Modern Pathology

Volumn 27, Issue 5, 2014, Pages 721-730

  Kaprova Pleskacova, Jana ^a   Stoop, Hans ^b   Brüggenwirth, Hennie ^b   Cools, Martine ^c   Wolffenbuttel, Katja P ^d   Drop, Stenvert L S ^d   Snajderova, Marta ^a   Lebl, Jan ^a   Oosterhuis, J Wolter ^b   Looijenga, Leendert H J ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

complete androgen insensitivity syndrome; delayed germ cell maturation; gonads; intratubular germ cell neoplasia; KITLG; POU5F1

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; EOSIN; HEMATOXYLIN; KITLG PROTEIN; OCTAMER TRANSCRIPTION FACTOR 4; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CANCER RISK; CELL MATURATION; CELL SURVIVAL; CHILD; CLINICAL ARTICLE; COMPLETE ANDROGEN INSENSITIVITY SYNDROME; CONTROLLED STUDY; FEMALE; GERM CELL; GERM CELL TUMOR; GONADAL GERM CELL CANCER; GONADAL HISTOLOGY; HAMARTOMA; HAMARTOMATOUS NODULE; HISTOLOGY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPLASIA; IMMUNOHISTOCHEMISTRY; INFANT; LEYDIG CELL HYPERPLASIA; MALE; MALIGNANT TRANSFORMATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; ANDROGEN INSENSITIVITY SYNDROME; NEOPLASM; PATHOLOGY; PRESCHOOL CHILD; TESTIS; TESTIS TUMOR;

ADOLESCENT; ANDROGEN-INSENSITIVITY SYNDROME; CHILD; CHILD, PRESCHOOL; GERM CELLS; HUMANS; INFANT; MALE; NEOPLASMS, GERM CELL AND EMBRYONAL; TESTICULAR NEOPLASMS; TESTIS;

EID: 84899932877     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2013.193     Document Type: Article

References (31)

1. Hughes IA, Davies JD, Bunch TI, et al. Androgeninsensitivity syndrome. Lancet 2012;380:419-428.
2. Hannema SE, Scott IS, Rajpert-De Meyts E, et al.Testicular development in the complete androgeninsensitivity syndrome. J Pathol 2006;208:518-527.
3. Giwercman A, Bruun E, Frimodt-Mller C, et al.Prevalence of carcinoma in situ and other histopathologicalabnormalities in testes of men with a history ofcryptorchidism. J Urol 1989;142:998-1001.
4. Cools M, Drop SLS, Wolffenbuttel KP, et al. Germ celltumors in the intersex gonad: Old paths, new directions,moving frontiers. Endocr Rev 2006;27:468-484.
5. Deans R, Crighton SM, Liao L-M, et al. Timing ofgonadectomy in adult women with complete androgeninsensitivity syndrome (CAIS): patient preferences andclinical evidence. Clin Endocrinol (Oxf) 2012;76:894-898.
6. Manuel M, Katayama KP, Jones HW. The age ofoccurance of gonadal tumors in intersex patients withY chromosome. Am J Obstet Gynecol 1976;124:293-300.
7. Hurt WG, Bodurtha JN, McCall JB, et al. Seminoma inpubertal patient with androgen insensitivity syndrome.Am J Obstet Gynecol 1989;161:530-531.
8. Cools M, van Aerde K, Kersemaekers A-M, et al.Morphological and immunohistochemical differencesbetween gonadal maturation delay and early germ cellneoplasia in patients with undervirilization syndromes.J Clin Endocrinol Metab 2005;90:5295-5303.
9. Bangsbll S, Qvist I, Lebech PE, et al. Testicularfeminization syndrome and associated gonadal tumorsin Denmark. Acta Obstet Gynecol Scand 1992;71:63-66.
10. Cassio A, Cacciari E, D'Errico A, et al. Incidence ofintratubular germ cell neoplasia in androgen insensitivitysyndrome. Acta Endocrinol (Copenh)1990;123:416-422.
11. Müller J, Skakkebaek NE. Testicular carcinoma in situin children with the androgen insensitivity (testicularfeminisation) syndrome. Br Med J 1984;288:1419-1420.
12. Hannema SE, Scott IS, Hodapp J, et al. Residualactivity of mutant androgen receptors explains Wolffianduct development in the complete androgeninsensitivity syndrome. J Clin Endocrinol Metab 2004;89:5815-5822.
13. de Jong J, Stoop H, Dohle GR, et al. Diagnostic value ofOCT3/4 for pre-invasive and invasive testicular germcell tumours. J Pathol 2005;206:242-249.
14. Stoop H, Honecker F, van de Geijn GJM, et al. Stem cellfactor as a novel diagnostic marker for early malignantgerm cells. J Pathol 2008;216:43-54.
15. Schnieders F, Dörk T, Arnemann J, et al. Testis-specificprotein, Y encoded (TSPY) expression in testiculartissues. Hum Mol Genet 1996;5:1801-1807.
16. Brü ggenwirth HT, Boehmer AL, Verleun-MooijmanMC, et al. Molecular basis of androgen insensitivity.J Steroid Biochem Mol Biol 1996;58:569-575.
17. Brü ggenwirth HT, Boehmer ALM, Lobaccaro JM, et al.Substitution of Ala564 in the first zinc cluster of thedeoxyribonucleic acid (DNA)-binding domain of theandrogen receptor by Asp, Asn, or Leu exerts differentialeffects on DNA binding. Endocrinology 1998;139:103-110.
18. Mowszowitz I, Lee HJ, Chen HT, et al. A pointmutation in the second zinc finger of the DNA-bindingdomain of the androgen receptor gene causes completeandrogen insensitivity in two siblings with receptorpositiveandrogen resistence. Mol Endocrinol 1993;7:861-869.
19. Weidemann W, Linck B, Haupt H, et al. Clinical andbiochemical investigations and molecular analysis ofsubjects with mutations in the androgen receptor gene.Clin Endocrinol (Oxf.) 1996;45:733-739.
20. Beitel LK, Kazemi-Esfarjani P, Kaufman M, et al.Substitution of arginine-839 by cysteine or histidinein the androgen receptor causes different receptorphenotypes in cultured cells and coordinate degrees ofclinical androgen resistence. J Clin Invest 1994;94:546-554.
21. Knoke I, Allera A, Wieacker P. Significance of the CAGrepeat lenght in the androgen receptor gene (AR) forthe transactivation function of an M780I mutant AR.Hum Genet 1999;104:257-261.
22. Marcelli M, Zoppi S, Wilson CM, et al. Amino acidsubstitutions in the hormone-binding domain of thehuman androgen receptor alter the stability of thehormone receptor complex. J Clin Invest1994;94:1642-1650.
23. Brü ggenwirth HT, Boehmer ALM, Ramnarain S, et al.Molecular analysis of the androgen-receptor gene in afamily with receptor-positive androgen insensitivity:an anusual type of intronic mutation. Am J Hum Genet1997;61:1067-1077.
24. Zoppi S, Wilson CM, Harbison MD, et al. Completetesticular feminization caused by an amino-terminaltruncation of the androgen receptor with downstreaminitiation. J Clin Invest 1993;91:1105-1112.
25. Oosterhuis JW, Stoop H, Dohle G, et al. A pathologist'sview on the testis biopsy. Int J Androl 2011;34:e14-e19.
26. Honecker F, Stoop H, de Krijger RR, et al. Pathobiologicalimplications of the expression of markers oftesticular carcinoma in situ by fetal germ cells. J Pathol2004;203:849-857.
27. Barthold JS, Kumasi-Rivers K, Upadhyay J, et al.Testicular position in the androgen insensitivitysyndrome: implications for the role of androgens intesticular descent. J Urol 2000;164:497-501.
28. Morris JM, Mahesh VB. Further observation on thesyndrome, "testicular feminization". Am J ObstetGynecol 1963;87:731-745.
29. Rutgers JL, Scully RE. The androgen insensitivitysyndrome (testicular feminization): a clinicopathologicstudy of 43 cases. Int J Gynecol Pathol 1991;10:126-144.
30. Dieckmann K-P, Skakkebaek NE. Carcinoma in situ ofthe testis: review of biological and clinical features. IntJ Cancer 1999;83:815-822.
31. Gottlieb B, Beitel LK, Nadarajah A, et al. The androgenreceptor gene mutations database: 2012 update. HumMutat 2012;33:887-894.