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[True hermaphroditism: description of a case]
G Patti1, M S Pergola, M Mariani
1Divisione di Chirurgia Pediatrica, Ospedale S. Camillo, USL RM10-Roma, Italia.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|November 1, 1992
Summary
A rare case of true hermaphroditism was diagnosed in an infant with normal male genitalia. Genetic analysis revealed a mosaic karyotype of 46.XX/47.XXY, indicating mixed chromosomal makeup.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Reproductive Biology
Background:
- True hermaphroditism is a rare disorder of sex development characterized by the presence of both ovarian and testicular tissue.
- Infants may present with ambiguous genitalia or normal external genitalia for their assigned sex.
Observation:
- This report details a case of an infant with normal male external genitalia initially diagnosed with hydrocele and cryptorchidism.
- Intraoperative findings revealed true hermaphroditism, necessitating the removal of left ovarian and fallopian tube structures.
Findings:
- Genetic analysis confirmed a mosaic karyotype of 46.XX/47.XXY, a rare chromosomal combination.
- The presence of both XX and XXY cell lines explains the biological basis of true hermaphroditism in this patient.
Implications:
- This case highlights the importance of considering true hermaphroditism in the differential diagnosis of infants with specific reproductive anomalies.
- Understanding the genetic basis of such conditions is crucial for accurate diagnosis and appropriate management strategies.
- Further research into the developmental pathways of sex determination can provide insights into similar disorders of sex development.