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Mixed Sex Chromosome and Ovo-Testicular DSD

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Disorders of Sex Development

Abstract

Some of the causes of DSD are abnormal combinations of sex chromosomes. Mixed sex chromosome DSD, where there is aneuploidy, or lacked of paired chromosomes, is the cause of Turner syndrome (45,X) and Kleinfelter syndrome (47,XXY). In addition, there are often mosaic mixtures of sex chromosomes, where patients with Turner syndrome have some Y-chromosomal cell lines that predispose to gonadal malignancy. There are also well-known patterns of asymmetrical sex development where a 45,X/46,XY pattern produces mixed gonadal dysgenesis and 46,XX/46,XY may cause ovo-testicular DSD.

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References

  • Beckman A, Conway GS, Cadge B (2004) Audiological features of Turner’s syndrome in adults. Int J Audiol 43(9):533–544

    Article  PubMed  Google Scholar 

  • Bergamaschi R, Bergonzoni C, Mazzanti L et al (2008) Hearing loss in Turner syndrome: results of a multicentric study. J Endocrinol Invest 31(9):779–783

    PubMed  CAS  Google Scholar 

  • Brinkmann L, Schuetzmann K, Richter-Appelt H (2007) Gender assignment and medical history of individuals with different forms of intersexuality: evaluation of medical records and the patients’ perspective. J Sex Med 4(4 Pt 1):964–980

    Article  PubMed  Google Scholar 

  • Cabanes L, Chalas C, Christin-Maitre S et al (2010) Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol 152(1):18–24

    Article  PubMed  Google Scholar 

  • Cameron FJ, Montalto J, Byrt EA et al (1997) Gonadal dysgenesis: associations between clinical features and sex of rearing. Endocr J 44(1):95–104

    Article  PubMed  CAS  Google Scholar 

  • Chang HJ, Clark RD, Bachman H (1990) The phenotype of 45, X/46, XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46(1):156–167

    PubMed  Google Scholar 

  • Chemes HE, Muzulin PM, Venara MC et al (2003) Early manifestations of testicular dysgenesis in children: Pathological phenotypes, karyotype correlations and precursor stages of tumour development. APMIS 111(1):12–24

    Article  PubMed  Google Scholar 

  • Conway GS (2009) Adult care of pediatric conditions: lessons from Turner’s syndrome. J Clin Endocrinol Metab 94(9):3185–3187

    Article  PubMed  CAS  Google Scholar 

  • Cools M, Stoop H, Kersemaekers AM et al (2006) Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. J Clin Endocrinol Metab 91(6):2404–2413

    Article  PubMed  CAS  Google Scholar 

  • Damiani D, Guedes DR, Damiani D et al (2005) True hermaphroditism: experience with 36 patients. Arq Bras Endocrinol Metabol 49(1):71–78

    PubMed  Google Scholar 

  • de Vries ALC, Doreleijers TAH, Cohen-Kettenis PT (2007) Disorders of sex development and gender identity outcome in adolescence and adulthood: understanding gender identity development and its clinical implications. Pediatr Endocrinol Rev 4(4):343–351

    PubMed  Google Scholar 

  • Ferlin A, Schipilliti M, Di Mambro A et al (2010) Osteoporosis in Klinefelter’s syndrome. Mol Hum Reprod 16(6):402–410

    Article  PubMed  CAS  Google Scholar 

  • Forti G, Corona G, Vignozzi L et al (2010) Klinefelter’s syndrome: a clinical and therapeutical update. Sex Dev 4(4–5):249–258

    Article  PubMed  CAS  Google Scholar 

  • Georgopoulos NA, Adonakis G, Papadopoulos V et al (2009) Feto-maternal risks associated with pregnancy achieved through oocyte donation in a woman with Turner syndrome. Gynecol Endocrinol 25(6):383–386

    Article  PubMed  Google Scholar 

  • Gillam LH, Hewitt JK, Warne GL (2010) Ethical principles for the management of infants with disorders of sex development. Horm Res Paediatr 74:412–418

    Article  PubMed  CAS  Google Scholar 

  • Gorosito M, Pancera B, Sarancone S et al (2010) Gonadoblastoma: an unusual ovarian tumor. Ann Diagn Pathol 14(4):247–250

    Article  PubMed  Google Scholar 

  • Hanson L, Bryman I, Barrenas ML et al (2001) Genetic analysis of mosaicism in 53 women with Turner syndrome. Hereditas 134(2):153–159

    Article  PubMed  CAS  Google Scholar 

  • Hersmus R, de Leeuw BH, Wolffenbuttel KP et al (2008) New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). Mol Cell Endocrinol 291(1–2):1–10

    Article  PubMed  CAS  Google Scholar 

  • Hiramatsu H, Morishima T, Nakanishi H et al (2008) Successful treatment of a patient with Klinefelter’s syndrome complicated by mediastinal germ cell tumor and AML(M7). Bone Marrow Transplant 41(10):907–908

    Article  PubMed  CAS  Google Scholar 

  • Huang JY, Tulandi T, Holzer H (2008) Cryopreservation of ovarian tissue and in vitro matured oocytes in a female with mosaic Turner syndrome: case report. Human Reprod 23(2):336–339

    Article  CAS  Google Scholar 

  • Hughes IA, Houk C, Ahmed SF et al (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91(7):554–563

    Article  PubMed  CAS  Google Scholar 

  • Hultcrantz M, Sylven L, Borg E (1994) Ear and hearing problems in 44 middle-aged women with Turner’s syndrome. Hear Res 76(1–2):127–132

    Article  PubMed  CAS  Google Scholar 

  • Krob G, Braun A, Kuhnle U (1994) True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr 153(1):2–10

    Article  PubMed  CAS  Google Scholar 

  • Lara Orejas E, Golmayo Gaztelu L, Nunez Estevez M et al (2008) Low stature in males with normal phenotype and 45, X/46, XY mosaicism. An Pediatr (Barc) 68(2):140–142

    Article  CAS  Google Scholar 

  • Lee YS, Cheng AW, Ahmed SF et al (2007) Genital anomalies in Klinefelter’s syndrome. Horm Res 68(3):150–155

    Article  PubMed  CAS  Google Scholar 

  • Linden MG, Bender BG, Robinson A (1996) Intrauterine diagnosis of sex chromosome aneuploidy. Obstet Gynecol 87(3):468–475

    Article  PubMed  CAS  Google Scholar 

  • Loesch DZ, Bui QM, Kelso W et al (2005) Effect of Turner’s syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data [Erratum appears in Brain Dev. 2006 Mar;28(2):134 Note: Bergman, Paul [corrected to Bergman, Philip B]]. Brain Dev 27(7):494–503

    Article  PubMed  Google Scholar 

  • Looijenga LH, Hersmus R, Oosterhuis JW et al (2007) Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab 21(3):480–495

    Article  PubMed  CAS  Google Scholar 

  • Looijenga LHJ, Hersmus R, de Leeuw BHCGM et al (2010) Gonadal tumours and DSD. Baillieres Best Pract Res Clin Endocrinol Metab 24(2):291–310

    Article  Google Scholar 

  • Mazzocco MM, Baumgardner T, Freund LS et al (1998) Social functioning among girls with fragile X or Turner syndrome and their sisters. J Autism Dev Disord 28(6):509–17

    Article  PubMed  CAS  Google Scholar 

  • Morimoto N, Tanaka T, Taiji H et al (2006) Hearing loss in Turner syndrome. J Pediatr 149(5):697–701

    Article  PubMed  Google Scholar 

  • Mortensen KH, Rohde MD, Uldbjerg N et al (2010) Repeated spontaneous pregnancies in 45, X Turner syndrome. Obstet Gynecol 115(2 Pt 2):446–449

    Article  PubMed  Google Scholar 

  • Nielsen J, Wohlert M (1991) Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Human Genetics 87(1):81–3

    Article  PubMed  CAS  Google Scholar 

  • Nishi MY, Domenice S, Medeiros MA et al (2002) Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method [Erratum appears in Am J Med Genet. 2002 Nov 15;113(1):116–7]. Am J Med Genet 107(4):299–305

    Article  PubMed  Google Scholar 

  • Paduch DA, Bolyakov A, Cohen P et al (2009) Reproduction in men with Klinefelter syndrome: the past, the present, and the future. Semin Reprod Med 27(2):137–148

    Article  PubMed  Google Scholar 

  • Patsalis PC, Skordis N, Sismani C et al (2005) Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A 135(2):145–149

    PubMed  Google Scholar 

  • Robboy SJ, Miller T, Donahoe PK et al (1982) Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: perspective derived from a clinicopathologic analysis of twenty-one cases. Hum Pathol 13(8):700–716

    Article  PubMed  CAS  Google Scholar 

  • Skakkebaek NE (1994) Management and biology of carcinoma in situ and cancer of the testis. Histopathology 25(1):97–98

    Article  PubMed  CAS  Google Scholar 

  • Sybert VP (1984) Adult height in Turner syndrome with and without androgen therapy. The Journal of Pediatrics 104(3):365–369

    Article  PubMed  Google Scholar 

  • Szarras-Czapnik M, Lew-Starowicz Z, Zucker KJ (2007) A psychosexual follow-up study of patients with mixed or partial gonadal dysgenesis. J Pediatr Adolesc Gynecol 20(6):333–338

    Article  PubMed  Google Scholar 

  • Telvi L, Lebbar A, Del Pino O et al (1999) 45, X/46, XY mosaicism: report of 27 cases. Pediatrics 104(2 Pt 1):304–308

    Article  PubMed  CAS  Google Scholar 

  • Warne GL (2008) Long-term outcome of disorders of sex development. Sex Dev 2(4–5):268–277

    Article  PubMed  CAS  Google Scholar 

  • Warne G, Mann A (2011) Ethical and legal aspects of management for disorders of sex development. Journal of Paediatrics and Child Health. 47(9):661–663

    Article  PubMed  Google Scholar 

  • Warne GL, Raza J (2008) Disorders of sex development (DSDs), their presentation and management in different cultures. Rev Endocr Metab Disord 9(3):227–236

    Article  PubMed  Google Scholar 

  • Warne G, Grover S, Hutson J et al (2005a) A long-term outcome study of intersex conditions. J Pediatr Endocrinol 18(6):555–567

    Article  Google Scholar 

  • Warne GL, Grover S, Zajac JD (2005b) Hormonal therapies for individuals with intersex conditions: protocol for use. Treat Endocrinol 4(1):19–29

    Article  PubMed  CAS  Google Scholar 

  • Wiersma R (2001) Management of the African child with true hermaphroditism. J Pediatr Surg 36(2):397–399

    Article  PubMed  CAS  Google Scholar 

  • Wiersma R, Ramdial PK (2009) The gonads of 111 South African patients with ovotesticular disorder of sex differentiation. J Pediatr Surg 44(3):556–560

    Article  PubMed  Google Scholar 

  • Wikstrom AM, Dunkel L (2008) Testicular function in Klinefelter syndrome. Horm Res 69(6):317–326

    Article  PubMed  CAS  Google Scholar 

  • Wolff DJ, Van Dyke DL, Powell CM et al (2010) Laboratory guideline for Turner syndrome. Genet Med 12(1):52–55

    Article  PubMed  Google Scholar 

  • Yordam N, Alikasifoglu A, Kandemir N et al (2001) True hermaphroditism: clinical features, genetic variants and gonadal histology. J Pediatr Endocrinol Metab 14(4):421–427

    Article  PubMed  CAS  Google Scholar 

  • Yorifuji T, Muroi J, Mamada M et al (2001) Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material. J Med Genet 38(11):E41

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Endocrinology and Diabetes, Royal Children’s Hospital Melbourne, Parkville, VIC, Australia

    Jacqueline K. Hewitt & Garry L. Warne

Authors
  1. Jacqueline K. Hewitt
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  2. Garry L. Warne
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Correspondence to Jacqueline K. Hewitt .

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Editors and Affiliations

  1. , Department of Urology, The Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia

    John M. Hutson

  2. , Department of Endocrinology and Diabetes, The Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia

    Garry L. Warne

  3. , Department of Gynaecology, Royal Children's Hospital, Flemington Road, Parkville, 3052, Victoria, Australia

    Sonia R. Grover

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Hewitt, J.K., Warne, G.L. (2012). Mixed Sex Chromosome and Ovo-Testicular DSD. In: Hutson, J., Warne, G., Grover, S. (eds) Disorders of Sex Development. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-22964-0_8

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  • DOI: https://doi.org/10.1007/978-3-642-22964-0_8

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