An Original Genetic Protocol For The Investigation of Y Microdeletions In Male Infertile Patients

Aysen Akhundova; Sezin Canbek; Burcu Turkgenc

Makale detayları

An Original Genetic Protocol For The Investigation of Y Microdeletions In Male Infertile Patients

Yazarlar:

Aysen Akhundova | Sezin Canbek | Burcu Turkgenc

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Tıbbi Genetik (Kanser Genetiği hariç) | Üroloji

Dergi:

Osmangazi Tıp Dergisi Vol.47 Issue 1, pp.110-127

Belge Tipi:

Makale

Yayın Tarihi:

1/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001331252

pISSN:

1305-4953

Anahtar kelimeler:

Özet:

 The inability to conceive during 12 months or more of consistent, unprotected vaginal sex is known as infertility. In 30 of patients diagnosed with male infertility due to oligozoospermia and azoospermia, infertility is related to genetic causes. Y chromosome microdeletions are seen in idiopathic azoospermia 15-20 and idiopathic oligozoospermia 7-10. Complete or partial deletion status affects the patients production of viable sperm. In this study we aimed to investigate partial and complete Y microdeletions in male infertile patients with a unique genetic protocol, taking into account the recommendations of the EAAEMQN 2023 guidelines. In this study, DNA material from 45 patients, most of whom had azoospermia, 1 healthy female, and 1 healthy male control DNA were analyzed for Y chromosome AZF complete and partial microdeletions using the gold standard two-step multiplex PCR methodology. In our study, the Y microdeletion rate was 11.1 in 45 male patients diagnosed with male infertility. Of a total of 5 patients with deletions, 2 Patients 21 and 31 had partial AZFbc 40 with loss of the Y chromosome terminal heterochromatin region Sy160, 1 Patient 23 had complete AZFc 20 with preservation of the Y chromosome terminal heterochromatin region Sy160, and 2 Patients 25 and 35 had complete AZFabc 40 microdeletions. ZFYZFX and SRY sY14 were preserved in Patient 25 and Patient 35 with complete AZFabc deletions. The karyotype analysis result of Patient 35 was 46, XX male. A unique genetic protocol, based on the current 2023 EAAEMQN guidelines, has been developed to examine Y microdeletions in male infertile patients with high sensitivity and accuracy and provides advantages over previous protocols.

 The inability to conceive during 12 months or more of consistent, unprotected vaginal sex is known as infertility. In 30 of patients diagnosed with male infertility due to oligozoospermia and azoospermia, infertility is related to genetic causes. Y chromosome microdeletions are seen in idiopathic azoospermia 15-20 and idiopathic oligozoospermia 7-10. Complete or partial deletion status affects the patients production of viable sperm. In this study we aimed to investigate partial and complete Y microdeletions in male infertile patients with a unique genetic protocol, taking into account the recommendations of the EAAEMQN 2023 guidelines. In this study, DNA material from 45 patients, most of whom had azoospermia, 1 healthy female, and 1 healthy male control DNA were analyzed for Y chromosome AZF complete and partial microdeletions using the gold standard two-step multiplex PCR methodology. In our study, the Y microdeletion rate was 11.1 in 45 male patients diagnosed with male infertility. Of a total of 5 patients with deletions, 2 Patients 21 and 31 had partial AZFbc 40 with loss of the Y chromosome terminal heterochromatin region Sy160, 1 Patient 23 had complete AZFc 20 with preservation of the Y chromosome terminal heterochromatin region Sy160, and 2 Patients 25 and 35 had complete AZFabc 40 microdeletions. ZFYZFX and SRY sY14 were preserved in Patient 25 and Patient 35 with complete AZFabc deletions. The karyotype analysis result of Patient 35 was 46, XX male. A unique genetic protocol, based on the current 2023 EAAEMQN guidelines, has been developed to examine Y microdeletions in male infertile patients with high sensitivity and accuracy and provides advantages over previous protocols.

 The inability to conceive during 12 months or more of consistent, unprotected vaginal sex is known as infertility. In 30 of patients diagnosed with male infertility due to oligozoospermia and azoospermia, infertility is related to genetic causes. Y chromosome microdeletions are seen in idiopathic azoospermia 15-20 and idiopathic oligozoospermia 7-10. Complete or partial deletion status affects the patients production of viable sperm. In this study we aimed to investigate partial and complete Y microdeletions in male infertile patients with a unique genetic protocol, taking into account the recommendations of the EAAEMQN 2023 guidelines. In this study, DNA material from 45 patients, most of whom had azoospermia, 1 healthy female, and 1 healthy male control DNA were analyzed for Y chromosome AZF complete and partial microdeletions using the gold standard two-step multiplex PCR methodology. In our study, the Y microdeletion rate was 11.1 in 45 male patients diagnosed with male infertility. Of a total of 5 patients with deletions, 2 Patients 21 and 31 had partial AZFbc 40 with loss of the Y chromosome terminal heterochromatin region Sy160, 1 Patient 23 had complete AZFc 20 with preservation of the Y chromosome terminal heterochromatin region Sy160, and 2 Patients 25 and 35 had complete AZFabc 40 microdeletions. ZFYZFX and SRY sY14 were preserved in Patient 25 and Patient 35 with complete AZFabc deletions. The karyotype analysis result of Patient 35 was 46, XX male. A unique genetic protocol, based on the current 2023 EAAEMQN guidelines, has been developed to examine Y microdeletions in male infertile patients with high sensitivity and accuracy and provides advantages over previous protocols.

 Düzenli, korunmasız vajinal cinsel ilişkiden 12 ay veya daha uzun süre sonra gebe kalamama, infertilite olarak bilinmektedir. Oligozospermi ve azospermiye bağlı erkek infertilitesi tanılı hastaların 30unda infertilite, genetik nedenlerle ilişkilidir. İdiyopatik azospermide 15-20 ve idiyopatik oligozoospermide 7-10, Y kromozom mikrodelesyonları görülmektedir. Komple veya parsiyel delesyon durumu, hastanın canlı sperm üretimini etkilemektedir. Çalışmamızda, EAAEMQN 2023 klavuzu önerileri dikkate alınarak, özgün bir genetik protokol ile erkek infertil hastalarda parsiyel ve komple Y mikrodelesyonlarının incelenmesi amaçlandı. Çalışmada çoğu azospermili, 45 hastaya ait DNA materyali, 1 sağlıklı kadın ve 1 sağlıklı erkek kontrol DNAsı, Y kromozomu AZF komple ve parsiyel mikrodelesyon tayinini gerçekleştirmek üzere, altın standart olarak görülen iki aşamalı multipleks PZR metodolojisini kullanıldı. Çalışmamızda erkek infertilitesi tanısı almış 45 erkek hastada Y mikrodelesyon oranı 11,1 olarak belirlenmiştir. Delesyon belirlenen toplam 5 hastanın 2sinde Hasta 21 ve 31, Y kromozomu terminal heterokromatin bölgenin Sy160 de kaybıyla eşlik eden parsiyel AZFbc 40, 1inde Hasta 23 Y kromozomu terminal heterokromatin bölgenin Sy160 korunduğu komple AZFc 20, 2 hastada Hasta 25 ve 35 ise komple AZFabc 40 mikrodelesyonu saptanmıştır. Komple AZFabc delesyonları saptanan Hasta 25 ve Hasta 35de ZFYZFX ve SRY sY14 pozitif olarak değerlendirilmiştir. Hasta 35in karyotip analiz sonucu 46,XX erkek olarak tespit edilmiştir. Güncel 2023 EAAEMQN kılavuzları dikkate alınarak geliştirdiğimiz benzersiz genetik protokol ile, erkek infertil hastalarda, Y mikrodelesyonlarının yüksek hassasiyet ve doğrulukla incelenmesi sağlanmıştır ve önceki protokollere göre avantajlar sağlamaktadır. AZF komple ve parsiyel delesyonların tanısı prognostik öneme sahiptir ve hastanın tedavi seçeneklerini büyük oranda etkiler.

Makale detayları

An Original Genetic Protocol For The Investigation of Y Microdeletions In Male Infertile Patients

Yazarlar:

Aysen Akhundova | Sezin Canbek | Burcu Turkgenc

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Tıbbi Genetik (Kanser Genetiği hariç) | Üroloji

Dergi:

Osmangazi Tıp Dergisi Vol.47 Issue 1, pp.110-127

Belge Tipi:

Makale

Yayın Tarihi:

1/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001331252

pISSN:

1305-4953

Azoospermia

AZF

male infertility

Y chromosome microdeletion

multiplex PCRAzospermi

AZF

erkek infertilitesi

Y kromozom mikrodelesyon

multipleks PZR

Sayı

Makale detayları

Yazarlar: Aysen Akhundova | Sezin Canbek | Burcu Turkgenc

Yayıncı: Eskişehir Osmangazi University

Ana Başlıklar: Tıbbi Genetik (Kanser Genetiği hariç) | Üroloji

Dergi: Osmangazi Tıp Dergisi Vol.47 Issue 1, pp.110-127

Belge Tipi: Makale

Yayın Tarihi: 1/2025

Belge Dili: İngilizce

Document ID (Org No.): 2001331252

pISSN: 1305-4953

Sayı

Yazarlar:

Aysen Akhundova | Sezin Canbek | Burcu Turkgenc

Yayıncı:

Eskişehir Osmangazi University

Ana Başlıklar:

Tıbbi Genetik (Kanser Genetiği hariç) | Üroloji

Dergi:

Osmangazi Tıp Dergisi Vol.47 Issue 1, pp.110-127

Belge Tipi:

Makale

Yayın Tarihi:

1/2025

Belge Dili:

İngilizce

Document ID (Org No.):

2001331252

pISSN:

1305-4953