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True hermaphroditism: genetic variants and clinical management
C G Hadjiathanasiou1, R Brauner, S Lortat-Jacob
1Pediatric Endocrinology Unit, Hôpital et Faculté Necker-Enfants Malades, Paris, France.
The Journal of Pediatrics
|November 1, 1994
Summary
True hermaphroditism, a condition with varied genetic causes, most commonly presents with ambiguous genitalia in infants. The 46,XX karyotype is most prevalent, with SRY gene presence or absence influencing testicular development.
Area of Science:
- Endocrinology
- Genetics
- Pediatrics
Background:
- True hermaphroditism is a rare disorder of sex development characterized by the presence of both ovarian and testicular tissue.
- Early diagnosis and management are crucial for appropriate sex assignment and long-term outcomes.
Purpose of the Study:
- To describe the diagnosis and management of 22 patients with true hermaphroditism.
- To analyze the clinical presentation, genetic findings, and outcomes in this cohort.
Main Methods:
- Retrospective review of 22 patients diagnosed with true hermaphroditism.
- Clinical evaluation, hormonal assays (testosterone levels), karyotyping, and surgical exploration (laparotomy, genitography).
Main Results:
- Ambiguous genitalia were the most common initial presentation (20/22 cases), often identified in early infancy.
- The 46,XX karyotype was most frequent (17/22 cases), with SRY gene presence in some 46,XX individuals.
- Ovarian tissue was normal, while testicular tissue was dysgenetic; 14 patients were assigned female and 8 male sex.
Conclusions:
- True hermaphroditism is genetically heterogeneous, with a 46,XX karyotype being the most common.
- The SRY gene's role in testicular differentiation is complex, with potential involvement of other genes.
- Management requires a multidisciplinary approach for optimal sex assignment and pubertal development.