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Abstract
The gonadal phenotype of ipsilateral intra-abdominal testis and contralateral rudimentary
streak gonad is invariably associated with masculinizing signs, short stature, and
a mosaic 45,X/46,XY karyotype. A 16-year-old female with asymmetric gonadal dysgenesis
without clinical or biochemical evidence of androgen overproduction, and a 46,XY karyotype,
is presented.
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References
- Contributions to the study of the so-called pure gonadal dysgenesis.Acta Endocrinol. 1965; 48: 490-505
- Mixed gonadal dysgenesis. Association with unilateral testis and XY chromosome complement.JAMA. 1976; 235: 524-526
- 46,XY pure gonadal dysgenesis: Report of 2 unusual cases.Obstet Gynecol. 1980; 55: 6aS-64S
- The spectrum of 45,X/46,XY gonadal dysgenesis and its implications (A study of 19 patients).Pediat Adol Gynecol. 1983; 1: 1-17
- The origin of 45,X males.Am J Hum Genet. 1986; 38: 330-340
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© 1988 Springer-Verlag New York Inc. Published by Elsevier Inc. All rights reserved.
