Unusual mixed gonadal dysgenesis associated with Müllerian duct persistence, polygonadia, and a 45,X/46,X,idic(Y)(p) karyotype

American Journal of Medical Genetics

Volumn 136 A, Issue 4, 2005, Pages 386-389

  Queipo, Gloria ^a   Nieto, Karem ^a   Grether, Patricia ^d   Frías, Sara ^c   Álvarez, Rebeca ^a   Palma, Icela ^a   Eraña, Luis ^e   Peña, Yolanda R ^e   Kofman Alfaro, Susana ^a,b  

^a HOSPITAL GENERAL DE MÉXICO   (Mexico)

^b UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^c INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^d AMERICAN BRITISH COWDRAY MEDICAL CENTER   (Mexico)

^e HOSPITAL INFANTIL DE MÉXICO FEDERICO GÓMEZ   (Mexico)

Author keywords

Mixed gonadal dysgenesis; M llerian ducts persistence; Yp isodicentric

Indexed keywords

ARTICLE; CASE REPORT; DISEASE ASSOCIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENITAL MALFORMATION; GENOTYPE PHENOTYPE CORRELATION; GONADAL DYSGENESIS; HUMAN; KARYOTYPE; KARYOTYPE 45,X 46,X IDIC; MALE; MUELLERIAN DUCT; MUELLERIAN DUCT PERSISTENCE; MUTATIONAL ANALYSIS; NEWBORN; PARACENTRIC CHROMOSOME INVERSION; POLYGONADIA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TESTIS DISEASE; VIRILIZATION; Y CHROMOSOME;

CHROMOSOME BANDING; GONADAL DYSGENESIS, MIXED; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MODELS, GENETIC; MULLERIAN DUCTS; TESTIS;

WOLFFIA;

EID: 23044484449     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30737     Document Type: Article

References (23)

1. Barrios-Torres E, Erana-Guerra L, Sumano-Avendano E. 1989. Supernumerary testicles. Bol Med Hosp Infant Mex 46:56-59.
2. Belville C, Josso N, Picard JY. 1999. Persistence of Müllerian derivatives in males. Am J Med Genet 29:218-223.
3. Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky B, Rezaie AR, Picard JY, Josso N, di Clémente N, Gate RL. 2004. Mutations of the anti-Müllerian hormone gene in patients with persistent Müllerian duct syndrome: Biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model. Mol Endocrinol 18:708-721.
4. Bergada C, Coco R, Santamarina A, Chemes H. 1986. Variants of sexual differentiation in relation to sex chromosomal aberrations. Acta Endocrinol Suppl 279:183-187.
5. Burgers JK, Gearhart JP. 1988. Abdominal polyorchidism: An unusual variant. J Urol 140:582-583.
6. Chemes H, Muzulin PM, Venara MC, Mulhmann Mdel C, Martinez M, Gamboni M. 2003. Early manifestations of testicular dysgenesis in children: Pathological phenotypes, karyotype correlations, and precursor stages of tumor development. APMIS 111:12-23.
7. Diaz A, Carrillo A, Bauer M, Labie Andrew, Danon M. 2000. Persistent Müllerian duct syndrome in an infant with initial bilateral criptorchidism. Inter Ped 15:41-43.
8. Imbeaud S, Belville C, Messika-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY. 1996a. A 27 base-pair deletion of the anti-Müllerian type II receptor gene is the most common cause of the persistent Müllerian duct syndrome. Hum Mol Genet 5:1269-1277.
9. Imbeaud S, Josso N, Belville C, Messika-Zeitoun L, Rey R, Picard JY. 1996b. Molecular biology of the persistent Müllerian duct syndrome contracept. Fertil Sex 24:613.
10. Josso N, Picard JY, Imbeaud S, di Clemente N, Rey R. 1997. Clinical aspects and molecular genetics of the persistent Müllerian duct syndrome. Clin Endocrinol 47:137-144.
11. Karnak I, Tanyel FC, Akcoren Z, Hicsonmez A. 1997. Transverse testicular ectopia with persistent Müllerian duct syndrome. J Pediatr Surg 32:1362-1364.
12. Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY. 1999. Anti-Müllerian hormone Bruxelles: A nonsense mutation associated with the persistent Müllerian duct syndrome. Proc Natl Acad Sci 188:3767-3771.
13. Loeff DS, Imbeaud S, Reyes HM, Meller JL, Rosenthal IM. 1994. Surgical and genetic aspects of persistent Müllerian duct syndrome. J Pediatr Surg 29:61-65.
14. Martin EL, Bennett AH, Cromie WJ. 1992. Persistent Müllerian duct syndrome with transverse testicular ectopia and spermatogenesis. J Uroll 47:1615-1617.
15. Méndez JP, Ulloa-Aguirre A, Kofman-Alfaro S, Mutchinick O, Fernandez-del-Castillo C, Reyes E, Perez-Palacios G. 1993. Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. Am J Med Genet 15:263-267.
16. Picard JY, Belville C. 2002. Genetics and molecular pathology of anti-Müllerian hormone and its receptor. J Soc Biol 196:217-221.
17. Pinkel D, Gray JW, Trask B. 1986a. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harb Symp Quant Biol 1:151-157.
18. Pinkel D, Straume T, Gray JW. 1986b. Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci USA 83:2934-2938.
19. Queipo G, Zenteno JC, Peña R, Nieto K, Radillo A, Dorantes LM, Erana L, Lieberman E, Soderlund D, Jimenez AL, Ramon G, Kofman-Alfaro S. 2002. Molecular analysis in true hermaphroditism: Demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 11:278-283.
20. Renton CJ. 1975. A case of polyorchidism with intersex. J Urol 113:720-724.
21. Robboy SJ, Miller T, Donahoe PK, Jahre C, Welch WR, Haseltine FP, Miller WA, Atkins L, Crawford JD. 1982. Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: Perspective derived from a clinico pathologic analysis of twenty-one cases. Hum Pathol 13:700-716.
22. Telvi L, Aziza L, Del Pino O, Barbet P, Chaussain JL. 1999. 45,X/46,XY mosaisicm: Report of 27 cases. Pediatrics 104:304-308.
23. Yu TJ. 2002. The character of variant persistent Müllerian-duct structures. Pediatr Surg Int 18:455-458.