Chromosomal Aberrations in Primary Amenorrhea: A Retrospective Study.

Area of Science:

• Genetics
• Reproductive Medicine
• Cytogenetics

Background:

• Primary amenorrhea (PA) is a complex condition with various underlying causes.
• Understanding the genetic basis of PA is essential for accurate diagnosis and management.
• Chromosomal abnormalities are a significant factor contributing to PA.

Purpose of the Study:

• To determine the frequency of chromosomal abnormalities in primary amenorrhea.
• To investigate the association between chromosomal aberrations and clinical factors like secondary sexual characters and gonad development.
• To highlight the role of cytogenetics in diagnosing PA.

Main Methods:

• Retrospective analysis of 490 primary amenorrhea cases.
• Chromosomal preparations from peripheral blood using GTG banding and karyotyping (ISCN 2013).
• Fluorescence in situ hybridization (FISH) for X and Y chromosome analysis.

Main Results:

• A high frequency of abnormal uterus (81.9%) and ovaries (86.7%) was observed.
• 121 (24.7%) cases presented with abnormal karyotypes.
• XY karyotype detected in 29.8% of females with PA; 24.6% of PA individuals with anatomical abnormalities had chromosomal aberrations.

Conclusions:

• Cytogenetic analysis is vital for the precise diagnosis and management of primary amenorrhea.
• Identifying chromosomal abnormalities provides insight into the genetic etiology of PA.
• Routine cytogenetic evaluation is recommended for all PA cases.