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True hermaphroditism in 45,X/46,XY mosaicism
R K Linskens1, R J Odink, J C van der Linden
1Department of Pediatrics, Free University, Amsterdam, The Netherlands.
Hormone Research
|January 1, 1992
Summary
Two boys with 45,X/46,XY mosaicism and ambiguous genitalia were diagnosed with true hermaphroditism. This rare condition highlights the importance of considering intersexuality in patients with hypospadias and cryptorchidism.
Area of Science:
- Genetics and Endocrinology
- Reproductive Medicine
Background:
- 45,X/46,XY mosaicism presents a wide spectrum of phenotypic variations.
- Gonadal development in individuals with this chromosomal abnormality can be highly diverse.
Observation:
- Two male patients with 45,X/46,XY mosaicism presented with penile hypospadias and cryptorchidism.
- Histological examination revealed a dysgenetic ovary and testis in one patient, and a dysgenetic ovary in the other.
Findings:
- Both patients were diagnosed as true hermaphrodites based on clinical, hormonal, and histological findings.
- True hermaphroditism is a rare occurrence in individuals with 45,X/46,XY mosaicism.
Implications:
- Mild external genitalia malformations in males with 45,X/46,XY mosaicism may go unrecognized.
- True hermaphroditism should be considered in all patients with penoscrotal hypospadias and cryptorchidism, particularly those with 45,X/46,XY mosaicism.