Carta Revisado por pares

Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular‐cytogenetic, and ultrasonographic evaluation

2009; Wiley; Volume: 29; Issue: 10 Linguagem: Inglês

10.1002/pd.2329

ISSN

1097-0223

Autores

Fortunato Lonardo, Giuseppina Cantalupo, Maria Ciavarella, Matteo Della Monica, Cinzia Lombardi, Marianna Maioli, Lucia Masella, A. Nazzaro, Gioacchino Scarano,

Tópico(s)

Testicular diseases and treatments

Resumo

Prenatal DiagnosisVolume 29, Issue 10 p. 998-1001 Research Letter Prenatal diagnosis of 46,XX testicular DSD. Molecular, cytogenetic, molecular-cytogenetic, and ultrasonographic evaluation Fortunato Lonardo, Corresponding Author Fortunato Lonardo [email protected] [email protected] A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalyA.O.R.N. “Gaetano Rummo”, U.O.C. di Genetica Medica, Via dell'Angelo, 1 I-82100 Benevento (BN) - Italy.Search for more papers by this authorGiuseppina Cantalupo, Giuseppina Cantalupo A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorMaria Ciavarella, Maria Ciavarella A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorMatteo Della Monica, Matteo Della Monica A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorCinzia Lombardi, Cinzia Lombardi A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorMarianna Maioli, Marianna Maioli A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorLucia Masella, Lucia Masella A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorAlfredo Nazzaro, Alfredo Nazzaro A.O.R.N. “Gaetano Rummo”, Physiopathology of Human Reproduction and Prenatal Diagnosis Unit, Benevento (BN), ItalySearch for more papers by this authorGioacchino Scarano, Gioacchino Scarano A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this author Fortunato Lonardo, Corresponding Author Fortunato Lonardo [email protected] [email protected] A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalyA.O.R.N. “Gaetano Rummo”, U.O.C. di Genetica Medica, Via dell'Angelo, 1 I-82100 Benevento (BN) - Italy.Search for more papers by this authorGiuseppina Cantalupo, Giuseppina Cantalupo A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorMaria Ciavarella, Maria Ciavarella A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorMatteo Della Monica, Matteo Della Monica A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorCinzia Lombardi, Cinzia Lombardi A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorMarianna Maioli, Marianna Maioli A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorLucia Masella, Lucia Masella A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this authorAlfredo Nazzaro, Alfredo Nazzaro A.O.R.N. “Gaetano Rummo”, Physiopathology of Human Reproduction and Prenatal Diagnosis Unit, Benevento (BN), ItalySearch for more papers by this authorGioacchino Scarano, Gioacchino Scarano A.O.R.N. “Gaetano Rummo”, Medical Genetics Unit, Benevento (BN), ItalySearch for more papers by this author First published: 14 July 2009 https://doi.org/10.1002/pd.2329Citations: 7AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Abbas N, McElreavey K, Leconiat M, et al. 1993. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C R Acad Sci III 316(4): 375–383. CASPubMedWeb of Science®Google Scholar Dauwerse JG, Hansson KB, Brouwers AA, Peters DJ, Breuning MH. 2006. An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 86(2): 463e1–463e5. 10.1016/j.fertnstert.2005.12.062 Web of Science®Google Scholar de la Chapelle A, Hortling H, Niemi M, Wennstroem J. 1964. XX sex chromosomes in a human male. First case. Acta Med Scand 175(Suppl. 412): 25–28. PubMedGoogle Scholar Ergun-Longmire B, Vinci G, Alonso L, et al. 2005. Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature. J Pediatr Endocrinol Metab 18(8): 739–748. 10.1515/JPEM.2005.18.8.739 CASPubMedWeb of Science®Google Scholar Ferguson-Smith MA. 1966. X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 2(7461): 475–476. 10.1016/S0140-6736(66)92778-4 CASPubMedWeb of Science®Google Scholar Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group. 2006. Consensus statement on management of intersex disorders. Arch Dis Child 91(7): 554–563. Epub 2006 Apr 19. No abstract available. 10.1136/adc.2006.098319 CASPubMedWeb of Science®Google Scholar Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F. 2000. SRY transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite. Am J Med Genet 90(1): 25–28. 10.1002/(SICI)1096-8628(20000103)90:1 3.0.CO;2-5 CASPubMedWeb of Science®Google Scholar Pinhas-Hamiel O, Zalel Y, Smith E, et al. 2002. Prenatal diagnosis of sex differentiation disorders: the role of fetal ultrasound. J Clin Endocrinol Metab 87(10): 4547–4553. 10.1210/jc.2001-011034 CASPubMedWeb of Science®Google Scholar Queralt R, Madrigal I, Vallecillos MA, et al. 2008. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion. Am J Med Genet A 146A(10): 1335–1340. 10.1002/ajmg.a.32284 CASPubMedWeb of Science®Google Scholar Sinclair AH, Berta P, Palmer MS, et al. 1990. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346(6281): 240–244. 10.1038/346240a0 CASPubMedWeb of Science®Google Scholar Citing Literature Volume29, Issue10October 2009Pages 998-1001 ReferencesRelatedInformation

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