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Chapter 4 - ♂♀Disorders of Sexual Development

from Section 2 - Ovary and Testis: Similarities and Differences

Published online by Cambridge University Press:  12 February 2019

By
Manuel Nistal  and
Pilar González-Peramato
Edited by
Maria Rosaria Raspollini  and
Antonio Lopez-Beltran
Maria Rosaria Raspollini
Affiliation:
University Hospital Careggi, Florence
Antonio Lopez-Beltran
Affiliation:
Cordoba University Medical School
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Type
Chapter
Information
Gynecologic and Urologic Pathology
Similarities, Differences and Challenges
 , pp. 45 - 61
Publisher: Cambridge University Press
Print publication year: 2019

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References

Lee, P.A., Houk, C.P., Ahmed, S.F., et al; International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118: e488–e500.CrossRefGoogle ScholarPubMed
Lee, P.A., Nordenström, A., Houk, C.P., et al; Global DSD Update Consortium. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr 2016; 85: 158–180.CrossRefGoogle ScholarPubMed
Mieszczak, J., Houk, C.P., Lee, P.A.. Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr 2009; 21: 541–547.CrossRefGoogle ScholarPubMed
Ostrer, H.. Disorders of sex development (DSDs): an update. J Clin Endocrinol Metab 2014; 99: 1503–1509.Google Scholar
Damiani, D., Guerra-Júnior, G.. New definitions and classifications of the intersexual states: in which the Chicago Consensus has contributed to the state of the art? Arq Bras Endocrinol Metabol 2007; 51: 1013–1017.Google Scholar
Nistal, M., Gonzalez-Peramato, P.. Disorders of sex development. In: Jezek, D., editor, Atlas on the Human Testis: Normal Morphology and Pathology. London: Springer Verlag; 2012, p. 265–280.Google Scholar
Nistal, M., Paniagua, R., Gonzalez-Peramato, P.. Nonneoplastic diseases of the testis. In: Bostwick, D.G., Cheng, L., editors, Urologic Surgical Pathology, 3rd edn. Philadelphia, PA: Elsevier Saunders; 2014, p. 560–735.Google Scholar
Cools, M., Stoop, H., Kersemaekers, A.M., et al. Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. J Clin Endocrinol Metab 2006; 91: 2404–2413.Google Scholar
Modi, D.N., Sane, S., Bhartiya, D.. Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads. Mol Hum Reprod 2003; 9: 219–225.Google Scholar
Ogata, T., Matsuo, N.. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 1995; 95: 607–629.Google Scholar
Bispo, A.V., Dos Santos, L.O., Burégio-Frota, P., et al. Effect of chromosome constitution variations on the expression of Turner phenotype. Genet Mol Res 2013; 12: 4243–4250.CrossRefGoogle ScholarPubMed
Held, K.R., Kerber, S., Kaminsky, E., et al. Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes? Hum Genet 1992; 88: 288–294.Google Scholar
Zelaya, G., López Marti, J.M., Marino, R., et al. Gonadoblastoma in patients with Ullrich-Turner syndrome. Pediatr Dev Pathol 2015; 18: 117–121.Google Scholar
Chevalier, N., Letur, H., Lelannou, D., et al; 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–E267.Google Scholar
Kanakatti Shankar, R., Inge, T.H., Gutmark-Little, I., et al. Oophorectomy versus salpingo-oophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment. J Pediatr Surg 2014; 49: 1585–1588.Google Scholar
Huang, H., Wang, C.Q., Tian, Q.J.. Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis. Gynecol Endocrinol 2016; 32: 995–998.Google Scholar
King, T.F., Conway, G.S.. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes 2014; 21: 504–510.CrossRefGoogle ScholarPubMed
Andonova, S., Robeva, R., Sirakov, M., et al. A novel SRY gene mutation p.F109 L in a 46,XY female with complete gonadal dysgenesis. Sex Dev 2015; 9: 333–337.Google Scholar
Tagliarini, E.B., Assumpcao, J.G., Scolfaro, M.R., et al. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis. Braz J Med Res 2005; 38: 17–25.CrossRefGoogle Scholar
Werner, R., Mönig, I., August, J., et al. Novel insights into 46,XY disorders of sex development due to NR5A1 gene mutation. Sex Dev 2015; 9: 260–268.Google Scholar
Nistal, M., Paniagua, R., González-Peramato, P., et al. Perspectives in pediatric pathology, Chapter 5: Gonadal dysgenesis. Pediatr Dev Pathol 2015; 18: 259–278.Google Scholar
Guercio, G., Costanzo, M., Grinspon, R.P., et al. Fertility issues in disorders of sex development. Endocrinol Metab Clin North Am 2015; 44: 867–881.Google Scholar
Michala, L., Goswami, D., Creighton, S.M., et al. Swyer syndrome: presentation and outcomes. BJOG 2008; 115: 737–741.Google Scholar
Tosson, H., Rose, S.R., Gartner, L.A.. Description of children with 45,X/46,XY karyotype. Eur J Pediatr 2012; 171: 521–529.Google Scholar
Andrade, J.G., Guerra-Júnior, G., Maciel-Guerra, A.T.. 46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis. Arq Bras Endocrinol Metabol 2010; 54: 331–334.Google Scholar
Ribeiro Scolfaro, M., Aparecida Cardinalli, I., Gabas Stuchi-Perez, E., et al. Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism. Arch Pathol Lab Med 2001; 125: 652–656.Google Scholar
Slowikoska-Hilczer, J., Szarras-Czapnik, M., Kula, K.. Testicular pathology in 46,XY dysgenetic male pseudohermaphroditism: an approach to pathogenesis of testis cancer. J Androl 2001; 22: 781–792.CrossRefGoogle Scholar
Shalaby, M.M., Kurkar, A., Zarzour, M.A., et al. The management of the persistent Müllerian duct syndrome. Arab J Urol 2014; 12: 239–244.CrossRefGoogle ScholarPubMed
Imbeaud, S., Belville, C., Messika-Zeitoun, L., et al. 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 1996; 5: 1269–1277.Google Scholar
Belville, C., Maréchal, J.D., Pennetier, S., et al. Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. Hum Mol Genet 2009; 18: 3002–3013.Google Scholar
Krstic, Z.D., Smoljanic, Z., Vukanic, D., et al. True hermaphroditism: 10 years’ experience. Pediatr Surg Int 2000; 16: 580–583.Google Scholar
Aaronson, I.A.. True hermaphroditism: a review of 41 cases with observations on testicular histology and function. Br J Urol 1985; 57: 775–779.CrossRefGoogle ScholarPubMed
Wiersma, R., Ramdial, P.K.. The gonads of 111 South African patients with ovotesticular disorder of sex differentiation. J Pediatr Surg 2009; 44: 556–560.Google Scholar
Yordam, N., Alikasifoglu, A., Kandemir, N., et al. True hermaphroditism: clinical features, genetic variants and gonadal histology. J Pediatr Endocrinol Metab 2001; 14: 421–427.Google Scholar
Wettasinghe, K.T., Sirisena, N.D., Andraweera, P.H., et al. A case series of five srilankan patients with ovotesticular disorder of sex development. Clin Pediatr Endocrinol 2012; 21: 69–73.Google Scholar
Morel, Y., Rey, R., Teinturier, C., et al. An etiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 2002; 161: 49–59.Google Scholar
Kolon, T.F., Ferrer, F.A., Mckenna, P.H.. Clinical and molecular analysis of XX sex reversed patients. J Urol 1998; 160: 1169–1172.Google Scholar
Kojima, Y., Hayashi, Y., Mizuno, K., et al. Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males. Clin Endocrinol (Oxf) 2008; 68: 791–799.Google Scholar
Ledig, S., Hiort, O., Wünsch, L., et al. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol 2012; 167: 119–124.Google Scholar
Tomaselli, S., Megiorni, F., De Bernardo, C., et al. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 2008; 29: 220–226.CrossRefGoogle Scholar
Jingde, Z., Xin, X., Entan, G., et al. Surgical treatment of hermaphroditism: experience with 25 cases. Ann Plast Surg 2009; 63: 543–551.Google Scholar
Schultz, B.A., Roberts, S., Rodgers, A., et al. Pregnancy in true hermaphrodites and all male offspring to date. Obstet Gynecol 2009; 113: 534–536.Google Scholar
Nistal, M., Paniagua, R., González-Peramato, P., et al. Perspectives in pediatric pathology, Chapter 6: Male undermasculinization. Pediatr Dev Pathol 2015; 18: 279–296.Google Scholar
Richter-Unruh, A., Martens, J.W., Verhoef-Post, M., et al. Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene. Clin Endocrinol (Oxf) 2002; 56: 103–112.Google Scholar
Mendonca, B.B., Costa, E.M., Belgorosky, A., et al. 46,XY DSD due to impaired androgen production. Best Pract Res Clin Endocrinol Metab 2010; 24: 243–262.CrossRefGoogle ScholarPubMed
Brinkmann, AO. Molecular basis of androgen insensitivity. Mol Cell Endocrinol 2001; 179: 105–109.Google Scholar
Regadera, J., Martinez-García, F., Paniagua, R., et al. Androgen insensitivity syndrome: an immunohistochemical, ultrastructural, and morphometric study. Arch Pathol Lab Med 1999; 123: 225–234.Google Scholar
Rutgers, J.L., Scully, R.E.. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int J Gynecol Pathol 1991; 10: 126–144.Google Scholar
Imperato-McGinley, J., Guerrero, L., Gautier, T., et al. Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 1974; 186(4170): 1213–1215.Google Scholar
Okeigwe, I., Kuohung, W.. 5-Alpha reductase deficiency: a 40-year retrospective review. Curr Opin Endocrinol Diabetes Obes 2014; 21: 483–487.Google Scholar

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