Summary
A phenotypic female infant with features suggestive of trisomy 18 had a 46, XY karyotype. External and internal genitalia appeared to be those of a normal female with the gonads in normal ovarian position. The gonads, however, were dysgenetic. Gonadal differentiation was exclusively medullary with formation of sex cords. Hilar mesonephric ducts were partially differentiated into an epididymis. No cortical differentiation was present, and the interstitium was not ovarian.
The failure of these gonads in an XY individual to promote wolffian development adequately and to inhibit müllerian structures is functionally similar to XY gonadal dysgenesis. Study of additional similar patients may advance understanding of normal male sexual development and XY gonadal dysgenesis.
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Federman, D. D.: Abnormal sexual development, Philadelphia: W. B. Saunders 1967
Finegold, M. J.: Personal communication
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Silengo, M., Kaufman, R.L. & Kissane, J. A 46,XY infant with uterus, dysgenetic gonads and multiple anomalies. Hum Genet 25, 65–68 (1974). https://doi.org/10.1007/BF00281008
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DOI: https://doi.org/10.1007/BF00281008