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Disorders of Sexual Development from the Pathologist’s Perspective

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Clues in the Diagnosis of Non-tumoral Testicular Pathology

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Abstract

The diagnosis of patients with disorders of sexual development (DSD) is complex. The assignment of a male or female gender, which often does not depend on its karyotype, is just the beginning of a long process that only ends happily when the phenotypic sex is coincident with the psychological sex. In the middle there is a teamwork of, among others, geneticists, endocrinologists, surgeons, and pathologists. In this and in the following three chapters, it is our intention to reclaim the central role that requires the knowledge of the histology of the gonads. For this purpose we have used a histological classification of DSD, based on the degree of differentiation of the gonad into either testis or ovary. We have considered the following types of gonads: undifferentiated gonadal tissue, classical streak gonad, hypoplastic ovary, streak gonad with epithelial cord-like structures, dysgenetic testis, streak testis, ovotestis, and structurally normal testicles. From the histological viewpoint, this chapter discusses the different clinical patterns and the most common karyotype in each of the entities associated with the presence of the classical streak gonad (Turner’s syndrome and 46,XX pure gonadal dysgenesis).

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References

  1. Dreger AD, Chase C, Sousa A, Gruppuso PA, Frader J. Changing the nomenclature/taxonomy for intersex: a scientific and clinical rationale. J Pediatr Endocrinol Metab. 2005;18:729–33.

    Article  PubMed  Google Scholar 

  2. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 2006;118:e488–500.

    Article  PubMed  Google Scholar 

  3. Sax L. How common is intersex? A response to Anne Fausto-Sterling. J Sex Res. 2002;39:174–8.

    Article  PubMed  Google Scholar 

  4. Nordenvall AS, Frisén L, Nordenström A, Lichtenstein P, Nordenskjöld A. Population based nationwide study of hypospadias in Sweden, 1973 to 2009: incidence and risk factors. J Urol. 2014;191:783–9.

    Article  PubMed  Google Scholar 

  5. Ostrer H. Disorders of sex development (DSDs): an update. J Clin Endocrinol Metab. 2014;99:1503–9.

    Article  CAS  PubMed  Google Scholar 

  6. Mieszczak J, Houk CP, Lee PA. Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr. 2009;21:541–7.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Lee PA, Nordenström A, Houk CP, Ahmed SF, Auchus R, Baratz A, Baratz Dalke K, Liao LM, Lin-Su K, Looijenga 3rd LH, Mazur T, Meyer-Bahlburg HF, Mouriquand P, Quigley CA, Sandberg DE, Vilain E, Witchel S, Global DSD Update Consortium. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85:158–80.

    Article  CAS  PubMed  Google Scholar 

  8. Nistal M, Gonzalez-Peramato P. Las disgenesias gonadales. Aproximación a través de la anatomía patológica al diagnóstico. Rev Horm Crecim. 2010;XIII:77–88.

    Google Scholar 

  9. Nistal M, Gonzalez-Peramato P. Disorders of sex development. In: Davor J, editor. Atlas on the human testis. Normal morphology and pathology. London: Springer; 2012. p. 265–80. ISBN:978–1–4471-2762-8.

    Google Scholar 

  10. Nistal M, Paniagua R, Gonzalez-Peramato P. Nonneoplastic diseases of the testis. In: Bostwick DG, Cheng L, editors. Urologic surgical pathology. 3rd ed. Philadelphia: Elsevier Saunders; 2014. p. 560–735. ISBN: 978–1–4557-4327-8.

    Google Scholar 

  11. Cools M, Stoop H, Kersemaekers AM, Drop SL, Wolffenbuttel KP, Bourguignon JP, Slowikowska-Hilczer J, Kula K, Faradz SM, Oosterhuis JW, Looijenga LH. Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. J Clin Endocrinol Metab. 2006;91:2404–13.

    Article  CAS  PubMed  Google Scholar 

  12. Linden H, Overzier C. True agonadism (anorchism) in siblings. Gynaecologia. 1956;142:215–33.

    CAS  PubMed  Google Scholar 

  13. Kennerknecht I, Sorgo W, Oberhoffer R, Teller WM, Mattfeldt T, Negri G, Vogel W. Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome. Am J Med Genet. 1993;47:1166–70.

    Article  CAS  PubMed  Google Scholar 

  14. Devriendt K, Deloof E, Moerman P, Legius E, Vanhole C, De Zegher F, Proesmans W, Devlieger H. Diaphragmatic hernia in Denys-Drash syndrome. Am J Med Genet. 1995;57:97–101.

    Article  CAS  PubMed  Google Scholar 

  15. Cui YX, Shi YC, Liu Q, Xia XY, Lu HY, Shao HF, Jia L, Yao B, Ge YF, Li XJ, Huang YF. A case of agonadism associated with y-chromosome rearrangement: cytogenetic and molecular studies. J Androl. 2009;30:650–4.

    Article  PubMed  Google Scholar 

  16. Takahashi K, Miyake A, Nakayashiro M. Hypoplastic left heart syndrome in PAGOD syndrome. Pediatr Int. 2014;56:422–4.

    Article  PubMed  Google Scholar 

  17. Silengo M, Del Monaco A, Linari A, Lala R. Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. Am J Med Genet. 2001;101:275–8.

    Article  CAS  PubMed  Google Scholar 

  18. Kushnick T, Wiley JE, Palmer SM. Agonadism in a 46,XY patient with CHARGE association. Am J Med Genet. 1992;42:96–9.

    Article  CAS  PubMed  Google Scholar 

  19. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.

    Article  CAS  PubMed  Google Scholar 

  20. Bispo AV, Dos Santos LO, Burégio-Frota P, Galdino MB, Duarte AR, Leal GF, Araújo J, Gomes B, Soares-Ventura EM, Muniz MT, Santos N. Effect of chromosome constitution variations on the expression of Turner phenotype. Genet Mol Res. 2013;12:4243–50.

    Article  CAS  PubMed  Google Scholar 

  21. Zelaya G, López Marti JM, Marino R, Garcia de Dávila MT, Gallego MS. Gonadoblastoma in patients with Ullrich-Turner síndrome. Pediatr Dev Pathol. 2015;18:117–21.

    Article  PubMed  Google Scholar 

  22. Tauchmanovà L, Rossi R, Pulcrano M, Tarantino L, Baldi C, Lombardi G. Turner’s syndrome mosaicism 45X/47XXX: an interesting natural history. J Endocrinol Invest. 2001;24:811–5.

    Article  PubMed  Google Scholar 

  23. Chevalier N, Letur H, Lelannou D, Ohl J, Cornet D, Chalas-Boissonnas C, Frydman R, Catteau-Jonard S, Greck-Chassain T, Papaxanthos-Roche A, Dulucq MC, Couet ML, Cédrin-Durnerin I, Pouly JL, Fénichel P. French Study Group for Oocyte Donation. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab. 2011;96:E260–7.

    Article  CAS  PubMed  Google Scholar 

  24. Kanakatti Shankar R, Inge TH, Gutmark-Little I, Backeljauw PF. Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment. J Pediatr Surg. 2014;49:1585–8.

    Article  PubMed  Google Scholar 

  25. McCarty Jr KS, Barton TK, Peete Jr CH, Creasman WT. Gonadal dysgenesis with adenocarcinoma of the endometrium: an electron microscopic and steroid receptor analyses with a review of the literature. Cancer. 1978;42:512–20.

    Article  PubMed  Google Scholar 

  26. Kohmanaee S, Dalili S, Rad AH. Pure gonadal dysgenesis (46 XX type) with a familial pattern. Adv Biomed Res. 2015;4:162.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D. A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Invest. 2015;125:4295–304.

    Article  PubMed  PubMed Central  Google Scholar 

  28. Kanagal DV, Prasad K, Rajesh A, Kumar RG, Cherian S, Shetty H, Shetty PK. Ovarian gonadoblastoma with dysgerminoma in a young girl with 46, XX karyotype: a case report. J Clin Diagn Res. 2013;7:2021–2.

    PubMed  PubMed Central  Google Scholar 

  29. Sampathkumar G, Veerasigamani N. Perrault syndrome – a rare case report. J Clin Diagn Res. 2015;9:OD01–2.

    PubMed  Google Scholar 

  30. Gokce C, Atabek ME, Kaynar L, Torun E, Kurtoglu S, Bayram F. Achondroplasia associated with gonadal dysgenesis. J Int Med Res. 2008;36:605–8.

    Article  CAS  PubMed  Google Scholar 

  31. Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, Roifman CM. Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters–a new syndrome. Am J Med Genet A. 2008;146A:8–14.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Universidad Autónoma de Madrid (UAM), Department of Anatomy, Histology and Neuroscience, School of Medicine, Madrid, Spain

    Manuel Nistal

  2. School of Medicine, Universidad Autónoma de Madrid (UAM), University Hospital La Paz, Department of Pathology, Madrid, Spain

    Pilar González-Peramato

  3. University Hospital Clinico San Carlos, Department of Urology, Madrid, Spain

    Álvaro Serrano

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  1. Manuel Nistal
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  2. Pilar González-Peramato
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  3. Álvaro Serrano
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Correspondence to Manuel Nistal .

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Nistal, M., González-Peramato, P., Serrano, Á. (2017). Disorders of Sexual Development from the Pathologist’s Perspective. In: Clues in the Diagnosis of Non-tumoral Testicular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-49364-0_2

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  • DOI: https://doi.org/10.1007/978-3-319-49364-0_2

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  • Print ISBN: 978-3-319-49363-3

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