Paper Information

Journal:   JOURNAL OF REPRODUCTION AND INFERTILITY   2017 , Volume 18 , Number 3; Page(s) 307 To 315.
 
Paper: 

Y CHROMOSOME MICRODELETIONS IN INFERTILE MEN WITH NON-OBSTRUCTIVE AZOOSPERMIA AND SEVERE OLIGOZOOSPERMIA

 
 
Author(s):  KIM SHIN YOUNG, KIM HYUN JIN, LEE BOM YI, PARK SO YEON, LEE HYO SERK, SEO JU TAE*
 
* DEPARTMENT OF UROLOGY, CHEIL GENERAL HOSPITAL AND WOMEN' S HEALTHCARE CENTER, DANKOOK UNIVERSITY COLLEGE OF MEDICINE, 1-19 MUKJEONG-DONG, JUNG-GU, SEOUL, KOREA, ZIP CODE: 100-380
 
Abstract: 

Background: The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and Y microdeletions.
Methods: A total of 1, 226 infertile men were screened for Y chromosome microdeletions using multiplex PCR assay. Karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Serum reproductive hormone levels were measured.
Results: Out of 1, 226 infertile patients, 134 (10.93%) had Y microdeletions. One hundred seven of 765 (13.99%) non-obstructive azoospermic patients and 27 of 133 (20.30%) severe oligozoospermic patients had Y microdeletions. Among the 134 infertile men with Y microdeletions, the most frequent microdeletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFabc (Yq), Yp (SRY)+Yq, and partial AZFc regions. Karyotype analysis was available for 130 of the 134 patients with Y microdeletions. Of them, 36 (27.69%) patients had sex chromosomal abnormalities. Levels of FSH and LH in patients with AZFc microdeletion were significantly lower, while those in patients with Yp (SRY)+Yq were significantly higher than in patients without Y microdeletions. Level of testosterone in patients with AZFabc (Yq) or Yp (SRY)+Yq was significantly lower than that in patients without Y microdeletions. However, there was no significant difference in the levels of reproductive hormones between all patients with and without Y microdeletions.
Conclusion: These results highlight the need for Y chromosome microdeletion screening for correct diagnosis of male infertility. Obtaining reliable genetic information for assisted reproductive techniques can prevent unnecessary treatment and vertical transmission of genetic defects to offspring.

 
Keyword(s): MALE INFERTILITY, NON-OBSTRUCTIVE AZOOSPERMIA, REPRODUCTIVE HORMONE, SEVERE OLIGOZOOSPERMIA, Y CHROMOSOME MICRODELETION
 
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