Abstract
The diagnosis of ovotesticular disorders of sexual differentiation (DSD) is made on a histological basis after noticing that the patient has both ovarian and testicular tissue. Karyotypes associated with this entity are varied, 46,XX being the commonest one. The explanation of the presence of testis alone or of the formation of ovotestes lends to several pathogenic interpretations. The phenotype varies from male to female without in many cases a correlation between genotype and phenotype. The ovotestis is the most frequent gonad, and in half of the patients, it is lodged in the abdominal cavity. Patients have multiple problems ranging from the assignment of one sex to the decision to retain one gonad or the other in order to protect its development, preserve their potential fertility, and lower the risk of a germ cell tumor. A summary of the most important data on the following topics is given in this chapter: karyotype, pathogenetic theories, phenotype, gonadal types, types of true hermaphroditism, biological behavior of the gonads, and patient management.
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References
Krstic ZD, Smoljanic Z, Vukanic D, Varinac D, Janjic G. True hermaphroditism: 10 years’ experience. Pediatr Surg Int. 2000;16:580–3.
Blackless M, Charuvastra A, Derryck A, Fausto-Sterling A, Lauzanne K, Lee E. How sexually dimorphic are we? Review and synthesis. Am J Hum Biol. 2000;12:151–66.
Matsumoto F, Yamauchi K, Matsui F, Shimada K, Ida S. Acquired cryptorchidism in a boy with disorder of sex development. Clin Pediatr Endocrinol. 2012;21:1–3.
Wettasinghe KT, Sirisena ND, Andraweera PH, Jayasekara RW, Dissanayake VH. A case series of five srilankan patients with ovotesticular disorder of sex development. Clin Pediatr Endocrinol. 2012;21:69–73.
Dutta D, Shivaprasad KS, Das RN, Ghosh S, Chatterjee U, Chowdhury S, Dasgupta R. Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes. Andrologia. 2014;46:191–3.
Becker RE, Akhavan A. Prophylactic bilateral gonadectomy for ovotesticular disorder of sex development in a patient with mosaic 45,X/46,X,idic (Y)q11.222 karyotype. Urol Case Rep. 2016;5:13–6.
Zannoni GF, Vellone VG, Cordisco EL, Sangiorgi E, Grimaldi ME, Neri C, Nanni L, Neri G. Morphology and immunophenotyping of a monolateral ovotestis in a 46,Xder Y/45,X mosaic individual with ambiguous genitalia. Int J Gynecol Pathol. 2010;29:33–8.
Krob G, Braun A, Kuhnle U. True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr. 1994;153:2–10.
Kojima Y, Hayashi Y, Asai N, Maruyama T, Sasaki S, Kohri K. Detection of the sex-determining region of the Y chromosome in 46,XX true hermaphroditism. Urol Int. 1998;60:235–8.
Kolon TF, Ferrer FA, Mckenna PH. Clinical and molecular analysis of XX sex reversed patients. J Urol. 1998;160:1169–72.
Berkovitz GD, Fechner PY, Marcantonio SM, Bland G, Stetten G, Goodfellow PN, Smith KD, Migeon CJ. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet. 1992;88:411–6.
Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukui Y, Koopman P, Morohashi K, Kohri K. Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males. Clin Endocrinol (Oxf). 2008;68:791–9.
Ledig S, Hiort O, Wünsch L, Wieacker P. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol. 2012;167:119–24.
Tomaselli S, Megiorni F, De Bernardo C, Felici A, Marrocco G, Maggiulli G, Grammatico B, Remotti D, Saccucci P, Valentini F, Mazzilli MC, Majore S, Grammatico P. Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat. 2008;29:220–6.
Morel Y, Rey R, Teinturier C, Nicolino M, Michel-Calemard L, Mowszowicz I, Jaubert F, Fellous M, Chaussain JL, Chatelain P, David M, Nihoul-Fekete C, Forest MG, Josso N. A etiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr. 2002;161:49–59.
Ouhilal S, Turco J, Nangia A, Stotland M, Manganiello PD. True hermaphroditism presenting as bilateral gynecomastia in an adolescent phenotypic male. Fertil Steril. 2005;83:1041.
Kropp BP, Keating MA, Moshang T, Duckett JW. True hermaphroditism and normal male genitalia: an unusual presentation. Urology. 1995;46:736–9.
Yordam N, Alikasifoglu A, Kandemir N, Caglar M, Balci S. True hermaphroditism: clinical features, genetic variants and gonadal histology. J Pediatr Endocrinol Metab. 2001;14:421–7.
Olsson CA, Tessier PA, Brown ML, Austen Jr G. True hermaphroditism. J Urol. 1971;105:586–90.
Venkataram A, Shivaswamy S, Babu R, Santhosh S. Hernia uteri inguinalis in a case of ovotesticular disorder of sexual differentiation. J Pediatr Adolesc Gynecol. 2013;26:e17–9.
Irkilata HC, Basal S, Taslipinar A, Gur A, Piskin MM, Kurt B, Tahmaz L, Bolu E, Dayanc M. Ovotesticular disorder of sex development with a prostatic gland and review of literature. Andrologia. 2009;41:387–91.
Matsui F, Shimada K, Matsumoto F, Itesako T, Nara K, Ida S, Nakayama M. Long-term outcome of ovotesticular disorder of sex development: a single center experience. Int J Urol. 2011;18:231–6.
Mendez JP, Schiavon R, Diaz-Cueto L, Ruiz AI, Canto P, Diaz-Sanchez V, Ulloa-Aguirre A. A reliable endocrine test with human menopausal gonadotropins for diagnosis of true hermaphroditism in early infancy. J Clin Endocrinol Metab. 1998;83:3523–6.
Iqbal MZ, Jam MR, Saleem M, Ahmad M. True hermaphrodite: a case report. APSP J Case Rep. 2011;2:16.
Wiersma R, Ramdial PK. The gonads of 111 South African patients with ovotesticular disorder of sex differentiation. J Pediatr Surg. 2009;44:556–60.
Van Niekert WA, Retief AE. The gonads of human true hermaphrodites. Hum Genet. 1981;58:117–22.
Aaronson IA. True hermaphroditism. A review of 41 cases with observations on testicular histology and function. Br J Urol. 1985;57:775–9.
Tran CN, Semins MJ, Epstein JI, Gearhart JP. Ovotesticular disorder of sex development with mosaic 45,X/46,X,idic (Y) (q11.23) karyotype and streak gonad. Urology. 2011;78:1178–81.
Lim DJ, Mullins DL, Stevens PS. Crossed ectopia of ovotestis in a case of true hermaphroditism. J Pediatr Surg. 1996;31:1440–2.
Schultz BA, Roberts S, Rodgers A, Ataya K. Pregnancy in true hermaphrodites and all male offspring to date. Obstet Gynecol. 2009;113:534–6.
Younis JS, Radin O, Kerner H, Ben-Ami M. Successful monozygotic twin pregnancy fathered by a male 46,XY true hermaphrodite. Reprod Biomed Online. 2011;22:80–2.
Sugawara N, Kimura Y, Araki Y. Successful second delivery outcome using refrozen thawed testicular sperm from an infertile male true hermaphrodite with a 46, XX/46, XY karyotype: case report. Hum Cell. 2012;25:96–9.
Tiltman AJ, Sweerts M. Multiparity in a covert true hermaphrodite. Obstet Gynecol NY. 1982;60:752–4.
Minowada S, Fukutani K, Hara M, Shinohara M, Kamioka J, Isurugi K, Nijima T. Childbirth in true hermaphrodite. Eur Urol. 1984;10:414–5.
Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet. 1987;25:191–218.
Malik V, Gupta D, Gill M, Salvi AL. Seminoma in a male phenotype 46XX true hermaphrodite. Asian J Surg. 2007;30:85–7.
Kini U, Bantwal G, Ayyar V, Idiculla J. Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46 XY karyotype. J Assoc Physicians India. 2008;56:549–51.
Wang D, Hu Y, He Y, Xie C, Yin R. Pure ovarian choriocarinoma mimicking ectopic pregnancy in true hermaphroditism. Acta Obstet Gynecol Scand. 2009;88:850–2.
Jingde Z, Xin X, Entan G, Junhui L, Chunyu X, Xiaoyun W. Surgical treatment of hermaphroditism: experience with 25 cases. Ann Plast Surg. 2009;63:543–51.
Parada-Bustamante A, Ríos R, Ebensperger M, Lardone MC, Piottante A, Castro A. 46,XX/SRY-negative true hermaphrodite. Fertil Steril. 2010;94:2330.
Nihoul-Fekete C, Lortat-Jacob S, Cachin O, Josso N. Preservation of gonadal function in true hermaphroditism. J Pediatr Surg. 1984;19:50–5.
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Nistal, M., González-Peramato, P., Serrano, Á. (2017). True Hermaphroditism (Ovotesticular DSD). In: Clues in the Diagnosis of Non-tumoral Testicular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-49364-0_5
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