Perspectives in Pediatric Pathology,Chapter 7. Ovotesticular DSD (True Hermaphroditism)

Allen TD Kelalis PP King LR Belman AB . Clinical Pediatric Urology, 2nd ed.. Philadelphia: W. B. Saunders Company, 1995.

Damiani D Fellous M McElreavey K . True hermaphroditism: Clinical aspects and molecular studies in 16 cases. Eur J Endocrinol 1997;136:201–204.

Krstic ZD Smoljanic Z Vukanic D Varinac D Janjic G . True hermaphroditism: 10 years' experience. Pediatr Surg Int 2000;16:580–583.

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;12:151–166.

Eberenz W Rosenberg HK Moshang T Chatten J Keating MA . True hermaphroditism: Sonographic demonstration of ovotestes. Radiology 1991;179:429–431.

Braren V Slonim A Warner JJ O'Neill JA Jr Burr IM Rhamy RK . True hermaphroditism: A rational approach to diagnosis and treatment. Urology 1980;15:569–574.

Matsumoto F Yamauchi K Matsui F Shimada K Ida S . Acquired cryptorchidism in a boy with disorder of sex development. Clinical pediatric endocrinology: Case reports and clinical investigations: Clin Ped Endocrinol 2012;21:1–3.

Wettasinghe KT Sirisena ND Andraweera PH Jayasekara RW Dissanayake VH . A case series of five Sri Lankan patients with ovotesticular disorder of sex development. Clin Ped Endocrinol 2012;21:69–73.

Dutta D Shivaprasad KS Das RN . 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;46:191–193.

Zannoni GF Vellone VG Cordisco EL . Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia. Int J Gynecol Pathol 29:33–38.

Krob G Braun A Kuhnle U . True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology. Eur J Pediatr 1994;153:2–10.

Van Niekerk WA . True Hermaphroditism: Clinical, Morphologic and Cytogenetic Aspects. New York: Harper & Row, 1974.

Abbas NE Toublanc JE Boucekkine C . A possible common origin of “Y-negative” human XX males and XX true hermaphrodites. Hum Genet 1990;84:356–360.

Toublanc JE Boucekkine C Abbas N . Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation. Eur J Pediatr 1993;152(suppl 2):S70–S75.

Dorsey FY Hsieh MH Roth DR . 46,XX SRY-negative true hermaphrodite siblings. Urology 2009;73:529–531.

Ramos ES Moreira-Filho CA Vicente YA . SRY-negative true hermaphrodites and an XX male in two generations of the same family. Hum Genet 1996;97:596–598.

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;60:235–238.

Kolon TF Ferrer FA McKenna PH . Clinical and molecular analysis of XX sex reversed patients. J Urol 1998;160:1169–1172, discussion 78.

Berkovitz GD Fechner PY Marcantonio SM . The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism. Hum Genet 1992;88:411–416.

Kojima Y Hayashi Y Mizuno K . Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males. Clin Endocrinol (Oxf) 2008;68:791–799.

Ledig S Hiort O Wunsch L Wieacker P . Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development. Eur J Endocrinol 2012;167:119–124.

Tomaselli S Megiorni F De Bernardo C . Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation. Hum Mutat 2008;29:220–226.

Fechner PY Marcantonio SM Jaswaney V . The role of the sex-determining region Y gene in the etiology of 46,XX maleness. J Clin Endocrinol Metab 1993;76:690–695.

Inoue H Nomura M Yanase T . A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads. Intern Med 1998;37:467–461.

Jimenez AL Kofman-Alfaro S Berumen J . Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA. Am J Med Genet 2000;93:417–420.

Queipo G Zenteno JC Pena R . Molecular analysis in true hermaphroditism: Demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum Genet 2002;111:278–283.

Montero M Mendez R Valverde D Fernandez JL Gomez M Ruiz C . True hermaphroditism and normal male external genitalia: A rare presentation. Acta Paediatr 1999;88:909–911.

Yordam N Alikasifoglu A Kandemir N Caglar M Balci S . True hermaphroditism: Clinical features, genetic variants and gonadal histology. J Pediatr Endocrinol Metab 2001;14:421–427.

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.

Acosta VA Osorio Dominguez FJ Alonso . True hermaphroditism. Arch Esp Urol 2004;57:856–860.

Morel Y Rey R Teinturier C . Aetiological diagnosis of male sex ambiguity: A collaborative study. Eur J Pediatr 2002;161:49–59.

Irkilata HC Basal S Taslipinar A . Ovotesticular disorder of sex development with a prostatic gland and review of literature. Andrologia 2009;41:387–391.

Olsson CA Tessier PA Brown ML Austen G Jr . True hermaphroditism. J Urol 1971;105:586–590.

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–e19.

Luks FI Hansbrough F Klotz DH Jr Kottmeier PK Tolete-Velcek F . Early gender assignment in true hermaphroditism. J Pediatr Surg 1988;23:1122–1126.

Aaronson IA . True hermaphroditism. A review of 41 cases with observations on testicular histology and function. Br J Urol 1985;57:775–779.

Van Niekerk WA Retief AE . The gonads of human true hermaphrodites. Hum Genet 1981;58:117–122.

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

Berkovitz GD Rock JA Urban MD Migeon CJ . True hermaphroditism. Johns Hopkins Med J 1982;151:290–297.

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;78:1178–1181.

Lim DJ Mullins DL Stevens PS . Crossed ectopia of ovotestis in a case of true hermaphroditism. J Pediatr Surg 1996;31:1440–1442.

Mendez JP Schiavon R Diaz-Cueto L . A reliable endocrine test with human menopausal gonadotropins for diagnosis of true hermaphroditism in early infancy. J Clin Endocrinol Metab 1998;83:3523–3526.

Kropp BP Keating MA Moshang T Duckett JW . True hermaphroditism and normal male genitalia: An unusual presentation. Urology 1995;46:736–739.

McDaniel EC Nadel M Woolverton WC . True hermaphrodite with bilaterally descended ovotestes. J Urol 1968;100:77–81.

Shimoda N Sato K Satoh S Ogawa O Ito S Kato T . Atypical true hermaphroditism with a mosaic 45,X/46,X,dic(Y) (q11.2) karyotype. J Urol 1998;160:1434–1435.

Kim MH Gumpel JA Graff P . Pregnancy in a true hermaphrodite. Obstet Gynecol 1979;53(3 Suppl):40S–42S.

Mayou BJ Armon P Lindenbaum RH . Pregnancy and childbirth in a true hermaphrodite following reconstructive surgery. Br J Obstet Gynaecol 1978;85:314–316.

Narita O Manba S Nakanishi T Ishizuka N . Pregnancy and childbirth in a true hermaphrodite. Obstet Gynecol 1975;45:593–595.

Schultz BA Roberts S Rodgers A Ataya K . Pregnancy in true hermaphrodites and all male offspring to date. Obstet Gynecol 2009;113(2 Pt 2):534–536.

Talerman A Verp MS Senekjian E Gilewski T Vogelzang N . True hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46,XX/46,XY karyotype, and a successful pregnancy. Cancer 1990;66:2668–2672.

Tanaka Y Fujiwara K Yamauchi H Mikami Y Kohno I . Pregnancy in a woman with a Y chromosome after removal of an ovarian dysgerminoma. Gynecol Oncol 2000;79:519–521.

Tegenkamp TR Brazzell JW Tegenkamp I Labidi F . Pregnancy without benefit of reconstructive surgery in a bisexually active true hermaphrodite. Am J Obstet Gynecol 1979;135:427–428.

Verp MS Harrison HH Ober C . Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite. Fertil Steril 1992;57:346–349.

Williamson HO Phansey SA Mathur RS . True hermaphroditism with term vaginal delivery and a review. Am J Obstet Gynecol 1981;141:262–265.

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;22:80–82.

Tiltman AJ Sweerts M . Multiparity in a covert true hermaphrodite. Obstet Gynecol 1982;60:752–754.

Minowada S Fukutani K Hara M . Childbirth in true hermaphrodite. Eur Urol 1984;10:414–415.

Jingde Z Xin X Entan G Junhui L Chunyu X Xiaoyun W . Surgical treatment of hermaphroditism: Experience with 25 cases. Ann Plast Surg 2009;63:543–551.

Nihoul-Fekete C Lortat-Jacob S Cachin O Josso N . Preservation of gonadal function in true hermaphroditism. J Pediatr Surg. 1984;19:50–55.

Parada-Bustamante A Rios R Ebensperger M Lardone MC Piottante A Castro A . 46,XX/SRY-negative true hermaphrodite. Fertil Steril 94:2330.e13–2330.e16.

Verp MS Simpson JL . Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987;25:191–218.

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;56:549–551.

Malavaud B Mazerolles C Bieth E Chevreau C Le Frere MA Alric L . Pure seminoma in a male phenotype 46,XX true hermaphrodite. J Urol 2000;164:125–126.

Malik V Gupta D Gill M Salvi AL . Seminoma in a male phenotype 46XX true hermaphrodite. Asian J Surg 2007;30:85–87.

Nichter LS . Seminoma in a 46,XX true hermaphrodite with positive H-Y antigen. A case report. Cancer 1984;53:1181–1184.

Wang D Hu Y He Y Xie C Yin R . Pure ovarian choriocarinoma mimicking ectopic pregnancy in true hermaphroditism. Acta Obstet Gynecol Scand 2009;88:850–852.

Esen T Erdogru T Muslumanoglu M Kilicaslan I Kayserili H . Laparoscopic removal of uterus, seminal vesicle and bilateral ovotestes harboring mature teratoma and carcinoid tumor in an intersex patient. J Urol 1996;155:2032–2033.

Nitzsche K Kamin G Dittert DD Bier A Distler W . [Fetal juvenile granulosa cell tumor with hermaphroditism verus - prenatal diagnosis, management and outcome]. Ultraschall Med 2009;30:404–407.