Volume 12, Issue 5 (6-2014)                   IJRM 2014, 12(5): 351-0 | Back to browse issues page

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Dehghani M, Rossi E, Vetro A, Russo G, Hashemian Z, Zuffardi O. A newborn with ambiguous genitalia and a complex X;Y rearrangement. IJRM. 2014; 12 (5) :351-0
URL: http://journals.ssu.ac.ir/ijrmnew/article-1-535-en.html
1- Department of Molecular Medicine, University of Pavia, Pavia, Italy
2- Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
3- Department of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Italy
4- Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
5- Department of Molecular Medicine, University of Pavia, Pavia, Italy , zuffardi@unipv.it
Abstract:   (289 Views)
Background: In most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females.
Case: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated.
Conclusion: The presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity.
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Type of Study: Original Article |

1. Eggers S, Sinclair A. Mammalian sex determination- insights from humans and mice. Chromosome Res 2012; 20: 215-238. [DOI:10.1007/s10577-012-9274-3]
2. Blakless M CA. How Sexually Dimorphic Are We? Review and Synthesis. Am J Hum Biol 2000; 12: 151-166. https://doi.org/10.1002/(SICI)1520-6300(200003/04)12:2<151::AID-AJHB1>3.0.CO;2-F [DOI:10.1002/(SICI)1520-6300(200003/04)12:23.0.CO;2-F]
3. Kim Y CB. Balancing the bipotential gonad between alternative organ fates: a new perspective on an old problem. Dev Dyn 2006; 235: 2292-2300. [DOI:10.1002/dvdy.20894]
4. Achermann JCH IA. Williams Textbook of Endocrinology. Saunders, Philadelphia; 2011: 869-934.
5. Rey RAGRP. Normal male sexual differentiation and aetiology of disorders of sex development. Best Pract Res Clin Endocrinol Metab 2011; 25: 221-238. [DOI:10.1016/j.beem.2010.08.013]
6. Achermann JC, Hughes IA. Disorders of Sex Development. Williams Textbook of Endocrinology. 12th Ed. Saunders, Philadelphia; 2011.
7. Temel SG ea. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus. Sex Dev 2007; 1: 24-34. [DOI:10.1159/000096236]
8. Sutton EHJ. Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest 2011; 121: 328-341. [DOI:10.1172/JCI42580]
9. Hughes IA HC, Ahmed SF, Lee PA Consensus statement on management of intersex disorders. J Pediatr Urol 2006; 2: 148-162. [DOI:10.1016/j.jpurol.2006.03.004]
10. Abusheikha N, Lass A, Brinsden P. XX males without SRY gene and with infertility. Hum Reprod 2001; 16: 717-718. [DOI:10.1093/humrep/16.4.717]
11. Harley MOaVR. Disorders of sex development: new genes, new concepts. Nat Gene 2013; 9: 79- 91.
12. Zenteno JC, Lopez M, Vera C, Mendez JP, Kofman-Alfaro S. Two SRY-negative XX male brothers without genital ambiguity. Hum Genet 1997; 100: 606-610. [DOI:10.1007/s004390050561]
13. de la Chapelle A. The Y-chromosomal and autosomal testis-determining genes. Development 1987; 101 (Suppl.): 33-38.
14. Faith Y, Dorsey MHH, David R. 46,xx SRY negative as a true hermapherodism. Urology 2009; 73: 529-531. [DOI:10.1016/j.urology.2008.09.050]
15. Parma P, Radi O, Vidal V, Chaboissier MC, Dellambra E, Valentini S, et al. R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet 2006; 38: 1304-1309. [DOI:10.1038/ng1907]
16. Queipo G, Zenteno JC, Pena R, Nieto K, Radillo A, Dorantes LM, et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002; 111: 278-283. [DOI:10.1007/s00439-002-0772-9]
17. Zenteno-Ruiz JC, Kofman-Alfaro S, Mendez JP. 46,XX sex reversal. Arch Med Res 2001; 32: 559-566. [DOI:10.1016/S0188-4409(01)00322-8]
18. de la Chapelle A. Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet 1972; 24: 71-105.
19. Ferguson-Smith MA, Cooke A, Affara NA, Boyd E, Tolmie JL. Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet 1990; 84: 198-202. [DOI:10.1007/BF00208942]
20. Boucekkine C, Toublanc JE, Abbas N, Chaabouni S, Ouahid S, Semrouni M, et al. Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol 1994; 40: 733-742. [DOI:10.1111/j.1365-2265.1994.tb02506.x]
21. Ergun-Longmire B, Vinci G, Alonso L, Matthew S, Tansil S, Lin-Su K, et al. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatric Endocrinol Metab 2005; 18: 739-748. [DOI:10.1515/JPEM.2005.18.8.739]
22. State-specific rates of mental retardation--United States, 1993. MMWR Morbidity and mortality weekly report 1996; 45: 61-65.
23. Kusz K, Kotecki M, Wojda A, Szarras-Czapnik M, Latos-Bielenska A, Warenik-Szymankiewicz A, et al. Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome. J Med Genet 1999; 36: 452-456.
24. Jobling MA. A selective difference between human Y-chromosomal DNA haplotypes. Current Biol 1998; 8: 4. [DOI:10.1016/S0960-9822(98)00020-7]
25. Rosser ZH, Balaresque P, Jobling MA. Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. Am J Hum Genet 2009; 85: 130-134. [DOI:10.1016/j.ajhg.2009.06.009]
26. Bonaglia MC, Giorda R, Massagli A, Galluzzi R, Ciccone R, Zuffardi O. A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet 2009; 17: 179-186. [DOI:10.1038/ejhg.2008.160]
27. Zuffardi O, Bonaglia M, Ciccone R, Giorda R. Inverted duplications deletions: underdiagnosed rearrangements? Clin Genet 2009; 75: 505-513. [DOI:10.1111/j.1399-0004.2009.01187.x]

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