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[AZF gene microdeletions in azoospermic-oligozoospermic males]
Raquel Lahoz Alonso1, Paula Sienes Bailo1, María Ángeles César Márquez1
1Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, España.
Medicina Clinica
|August 23, 2022
Summary
Microdeletions in the Y-chromosome azoospermia factor (AZF) region (YCMs) are a significant cause of male infertility. This study found YCMs in 3.88% of infertile men, primarily in azoospermic patients, with AZFc deletions being most common.
Area of Science:
- Genetics
- Reproductive Medicine
- Human Molecular Genetics
Background:
- Y-chromosome azoospermia factor (AZF) microdeletions (YCMs) are a leading genetic cause of male infertility.
- Investigating YCMs frequency and characteristics in infertile populations is crucial for diagnosis and treatment.
Purpose of the Study:
- To determine the frequency and types of YCMs in infertile men in Aragon.
- To analyze the correlation between YCMs, sperm count, and sex hormone levels.
Main Methods:
- A retrospective descriptive study of 644 infertile men screened for YCMs between 2006-2019.
- Utilized PCR+reverse hybridization (YChromStrip), spermiogram, karyotype analysis, and sex hormone quantification.
Main Results:
- YCMs were detected in 3.88% (25/644) of infertile men, with a higher prevalence (14.58%) in azoospermic patients.
- AZFc region deletions were the most frequent (68%). Patients with YCMs showed significantly lower sperm counts and higher FSH/LH levels.
- 20% of patients with YCMs also had karyotype abnormalities.
Conclusions:
- YCMs screening is essential for diagnosing male infertility.
- Identifying YCMs aids in selecting appropriate assisted reproduction techniques and preventing genetic transmission.
- Results highlight the clinical significance of YCMs in infertile men, particularly those with azoospermia.
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