Karyotype Anomalies in Patients with Disorders of Sexual Development

Area of Science:

• Genetics
• Developmental Biology
• Reproductive Medicine

Background:

• Disorders of Sex Development (DSD) arise from discordance between chromosomal, anatomical, and phenotypic sex.
• Understanding rare karyotypes in DSD is crucial for clinical management and outcome comparison.

Purpose of the Study:

• To report on three female patients with DSD and uncommon karyotypes.
• To investigate the genetic mechanisms underlying DSD in these patients.
• To identify potential causes using cytogenetic and molecular techniques.

Main Methods:

• Karyotyping and Fluorescence In Situ Hybridization (FISH) techniques were employed.
• Analysis of three female patients presenting with DSD.

Main Results:

• Patient 1: Mosaic for idic(Y), SRY negative by FISH.
• Patient 2: idic(Y), SRY positive by FISH.
• Patient 3: Unbalanced X;2 translocation [der(2)(X;2)] with XY karyotype.

Conclusions:

• These cases illustrate diverse genetic mechanisms contributing to DSD.
• The findings expand the spectrum of abnormal karyotypes associated with DSD.
• Emphasizes the critical roles of SRY and DAX1 in sexual development.