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A true hermaphrodite with bilateral ovotestes: a case report
1Department of Clinical Laboratory Medicine, University of the Ryukyus, Okinawa, Japan.
The Journal of Obstetrics and Gynaecology Research
|June 1, 1996
Summary
This study reports a rare case of true hermaphroditism in a 20-month-old child with ambiguous genitalia. Genetic analysis revealed a 46/XX karyotype and absence of the SRY gene, confirming the condition.
Area of Science:
- Reproductive biology
- Genetics
- Pediatric endocrinology
Background:
- Ambiguous genitalia presents a diagnostic challenge in pediatrics.
- True hermaphroditism is a rare disorder of sex development characterized by the presence of both ovarian and testicular tissue.
Observation:
- A 20-month-old phenotypically male child presented with ambiguous external genitalia.
- Histological examination of gonadal masses revealed both ovarian and testicular tissues, indicating bilateral ovotestes.
Findings:
- Chromosomal analysis confirmed a 46/XX karyotype.
- DNA analysis indicated the absence of the SRY gene, a key determinant of male sex.
- The clinicopathological features were consistent with true hermaphroditism.
Implications:
- This case highlights the importance of comprehensive genetic and histological evaluation for diagnosing disorders of sex development.
- Understanding the genetic basis of true hermaphroditism aids in clinical management and genetic counseling.
- Further research into SRY gene function and its role in sex determination is warranted.