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[Genetic factor of sex determination]
N Abbas1, J Toublanc, R Rappaport
1INSERM, U276, Institut Pasteur, Paris.
Bulletin De L'Association Des Anatomistes
|March 1, 1991
Summary
Researchers identified three mechanisms causing XX male sex reversal and true hermaphroditism in humans lacking Y DNA. These include gonadal mosaicism, autosomal gene mutations, and Y-specific sequences near the pseudo-autosomal boundary.
Area of Science:
- Genetics
- Human Biology
- Reproductive Biology
Context:
- Investigating the genetic basis of sex development disorders.
- Analyzing cases of XX male and XX true hermaphroditism.
- Examining patients negative for Y DNA sequences, including ZFY.
Purpose:
- To elucidate the molecular mechanisms underlying XX sex reversal and true hermaphroditism.
- To identify novel genetic factors involved in human sex determination.
- To refine the understanding of the Testis Determining Factor (TDF) region.
Summary:
- Analysis of 40 XX male/true hermaphrodite cases revealed three distinct etiological mechanisms.
- One case showed gonadal mosaicism (46XY/46XX) detectable by PCR.
- Familial cases suggested mutations in downstream autosomal or pseudo-autosomal sex-determining genes.
- Five cases lacked ZFY but possessed Y-specific sequences near the pseudo-autosomal boundary, redefining the TDF location.
Impact:
- Provides critical insights into the complex genetic pathways of human sex determination.
- Identifies potential new targets for genetic diagnosis and counseling in DSD patients.
- Contributes to a more precise mapping of the TDF locus and its regulatory elements.