Abnormal Y chromosome detection in infertile males using multiplex ligation-dependent probe amplification

Area of Science:

• Genetics
• Reproductive Medicine
• Human Biology

Background:

• Y chromosome abnormalities are a primary driver of male infertility.
• Clinical identification of these abnormalities is essential for effective genetic counseling.
• Understanding the prevalence and characteristics of Y chromosome issues aids in managing infertile males.

Purpose of the Study:

• To determine the prevalence, distribution, and characteristics of Y chromosome abnormalities in infertile males.
• To investigate the association between Y chromosome abnormalities and specific infertility conditions like azoospermia and oligozoospermia.
• To inform clinical management strategies for infertile males based on Y chromosome abnormality data.

Main Methods:

• Recruitment of 121 oligozoospermia patients, 120 azoospermia patients, and 88 normal individuals (June 2019 - July 2021).
• Assessment of Y chromosome microdeletions using multiplex ligation-dependent probe amplification (MLPA).
• Statistical analysis including odds ratios (OR) and confidence intervals (CI) for specific subgroups.

Main Results:

• Overall prevalence of Y chromosome abnormalities was 30.70%, most common in the 26-40 age group.
• Azoospermia factor (AZF) deletion, duplication, and deletions/duplications occurred at 19.76%, 9.42%, and 1.52% respectively.
• AZFc deletion was the most frequent abnormality (19.80%), followed by AZFc partial deletion (40.59%) and partial duplication (17.82%).
• Oligozoospermia showed a higher incidence of AZF deletion (OR: 2.54).
• Younger azoospermic patients (<30 years) had elevated FSH and estradiol levels.
• AZF deletion was significantly more common in azoospermic (OR: 2.12) and oligozoospermic individuals compared to older normal individuals (≥30 years).

Conclusions:

• Y chromosome abnormalities, particularly AZF deletions, are significantly associated with male infertility (azoospermia and oligozoospermia).
• Age and specific hormonal profiles (FSH, estradiol) may correlate with Y chromosome abnormalities in younger azoospermic men.
• Findings underscore the importance of Y chromosome analysis in the genetic evaluation and counseling of infertile males.