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Coexistence of ovotestis and testicular regression in a boy with 46,XX/46,XY chimerism and sex ambiguity

Andréa Trevas Maciel-Guerra^I; Vera Lúcia Gil da Silva Lopes^I; Izilda Aparecida Cardinalli^II; Nilma Lúcia Viguetti^I; Antonia Paula Marques-de-Faria^I; Maria Tereza Matias Baptista^III; Gil Guerra Jr.^IV

^IDepartamento de Genética Médica, Faculdade de Ciências Médicas (FCM), Universidade Estadual de Campinas (UNICAMP), Caixa Postal 6111, 13081-970 Campinas, SP, Brasil. Phone: (0192) 398210, Fax: (0192) 393185. Send correspondence to A.T.M.-G.
^IIDepartamento de Anatomia Patológica, FCM, UNICAMP, Campinas, SP, Brasil
^IIIDepartamento de Clínica Médica, FCM, UNICAMP, Campinas, SP, Brasil
^IVDepartamento de Pediatria, FCM, UNICAMP, Campinas, SP, Brasil

ABSTRACT

We report on a boy with ambiguous genitalia (hypospadias and cryptorchidism), a 46,XX/46,XY karyotype, complete Wolffian differentiation and no Müllerian derivatives, a left ovotestis, and no gonadal tissue on the right side. True hermaphroditism and regression of testicular tissue in this case indicate that chimerism may not only disturb gonadal differentiation but also arrest its development.

Keywords: ovotestis; testicular regression; chimerism; sex ambiguity.

REFERENCES

Bergada, C., Cleveland, W.W., Jones Jr., H.W. and Wilkins, L. (1962). Variants of embryonic testicular dysgenesis: Bilateral anorchia and syndrome of rudimentary testes. Acta Endocrino!. 40: 521-536.

Clearly, R., Caras, J., Rosenfield, R.L. and Young, P.C.M. (1977). Endocrine and metabolic studies in a patient with male pseudohermaphroditism and true agonadism. Am. J. Obstei. Gynecol. 128: 862-867.

Dunn, H.O., McEntee, K., Hall, C.E., Johnson Jr., R.H. and Stone, W.H. (1979). Cytogenetic and reproductive studies of bulls born co-twin with freemartins. J. Reprod. Fert. 57: 21-30.

Ohno, S., Trujillo, J.M., Stenius, C., Christian, L.C. and Teplitz, R.L. (1962). Possible germ cell chimeras among newborn dizygotic twin calves (Bos taunts). Cytogenetics 1: 258-265.

Simpson, J.L. (1990). Disorders of gonads and internal reproductive tract. In: Principals and Practice of Medical Genetics (Emery, A.E.H. and Rimoin, D.L., eds.). 2nd edn. Churchill Livingstone, Edimburgh, pp. 1593-1617.

Teplitz, R.L., Moon, Y.S. and Basrur, P.K. (1967). Further studies of chimerism in heterosexual cattle twins. Chromosoma 22: 202-209.

Van Niekerk, W.A. and Retief, A.E. (1981). The gonads of human true hermaphrodites. Hum. Genet. 58: 117-122.

Verp, M.S. and Simpson, J.L. (1987). Abnormal sexual differentiation and neoplasia. Cancer Genet. Cytogenet. 25: 191-218.