Türk toplumunda AZF mikrodelesyonu saptanan olgularda genotip-fenotip ilişkisinin araştırılması
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Dosyalar
Tarih
2019
Yazarlar
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Yayıncı
Ege Üniversitesi, Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Amaç: İnfertilite, herhangi bir korunma yöntemi kullanılmadan 1 yıl içinde gebe kalınamaması durumu olarak tanımlanmaktadır. Popülasyonun yaklaşık %10-15'ini etkilemekle birlikte %35-50'si, kısmen veya tamamen erkek faktöründen kaynaklanmaktadır. Ejakülatta spermin hiç bulunmaması durumu olan azospermi, erkek infertilite vakalarının %10-20'sini oluşturur ve genel erkek popülasyonun %2'sini etkilemektedir. Genetik nedenli azospermi öncelikle kromozomal anomaliler, monogenik bozukluklar, multifaktöriyel hastalıklar ve epigenetik faktörler gibi bir dizi genetik bozukluktan kaynaklanabilir. Çalışmamızda, Türk toplumunda AZF mikrodelesyonu saptanan olguların delesyon tipi ile klinik bilgileri arasındaki ilişkinin aydınlatılması amaçlanmıştır. Gereç ve Yöntem: Azospermi tanısı ile Ocak 2009 ve Mart 2019 tarihleri arasında Ege Üniversitesi Tıp Fakültesi Üroloji AD. ve Ege Üniversitesi Aile Planlaması ve Kısırlık (İnfertilite) Uygulama ve Araştırma Merkezi'ne başvuran olgularda karyotip analizi normal ve AZF mikrodelesyonu saptanan olguların, hormon profili, demografik özellikleri ve TESE sonuçlarını içeren dosyaları incelenerek retrospektif olarak veriler toplanarak analiz edilmiştir. Bulgular: 46,XY karyotipine sahip 42 olgunun yapılan AZF mikrodelesyon testleri sonucunda 3 olguda AZFa, 2 olguda AZFb, 31 olguda AZFc, 4 olguda AZFb+AZFc ve 2 olguda AZFa+AZFb+AZFc mikrodelesyonu saptanmıştır. Uygulanan mikro-TESE sonucunda AZFc mikrodelesyonuna sahip 16 olguda sperm elde edilmiştir. Sperm elde edilen 2 olguda gebelik sağlanmıştır. Delesyon tipi ile yaş, boy, kilo, vücut kitle indeksi, hormon profili ve testis hacmi arasında istatistiksel olarak anlamlı bir fark bulunmamıştır. Sonuç: Çalışmamızda, AZF mikrodelesyonu bulunan toplam 42 olguda mikro-TESE sonuçlarını, hormonal ve demografik verilerini bütünüyle değerlendirmiş olan Türk toplumundaki en fazla olgu sayısına ulaşılmıştır. Aynı zamanda, genotip-fenotip korelasyonu literatür ile uyumlu bulunmuş olup; özellikle AZFc delesyonu saptanan olguların gebelik elde etme şanslarının bulunduğu gösterilmiştir.
Objective: Infertility is defined as the inability to conceive within 1 year period without using any prevention method. Although it affects approximately 10-15% of the population, 35-50% is due to male factor partially or completely. Azoospermia, which is the absence of sperm in the ejaculate accounts for 10-20% of male infertility cases and affects 2% of the male population. Genetic causes of azoospermia include a range of genetic disorders, such as chromosomal abnormalities, monogenic disorders, multifactorial diseases and epigenetic factors. In this study, we aimed to elucidate the relationship between AZF deletion type and clinical information of patients with AZF microdeletion in Turkish population. Materials and Methods: Patients with azoospermia who referred to Ege University, Faculty of Medicine Department of Urology and Ege University, Family Planning and Infertility Research and Application Center between January 2009 and March 2019 were enrolled to the study. Among these patients, cases with normal karyotype and with AZF microdeletion were analyzed retrospectively by collecting clinical data including hormone profile, demographic characteristics and micro-TESE results. Results: As a result of the AZF microdeletion tests of 42 cases with 46, XY karyotype, AZFa deletion in 3 cases, AZFb deletion in 2 cases, AZFc deletion in 31 cases, AZFb + AZFc deletion in 4 cases and AZFa + AZFb + AZFc deletion in 2 cases were detected. After micro-TESE, sperm was obtained in 16 cases with AZFc microdeletion. Pregnancy was achieved in 2 cases. There was no statistically significant difference between the type of deletion and age, height, weight, body mass index, hormone profile and testicular volume. Conclusion: In our study, the highest number of patients in the Turkish population, which fully evaluated the micro-TESE results, hormonal and demographic data was reached in 42 patients with AZF microdeletions and with normal karyotype. Also, genotype-phenotype correlation was found to be consistent with the literature; particularly patients having AZFc deletions were found to have a chance for pregnancy.
Objective: Infertility is defined as the inability to conceive within 1 year period without using any prevention method. Although it affects approximately 10-15% of the population, 35-50% is due to male factor partially or completely. Azoospermia, which is the absence of sperm in the ejaculate accounts for 10-20% of male infertility cases and affects 2% of the male population. Genetic causes of azoospermia include a range of genetic disorders, such as chromosomal abnormalities, monogenic disorders, multifactorial diseases and epigenetic factors. In this study, we aimed to elucidate the relationship between AZF deletion type and clinical information of patients with AZF microdeletion in Turkish population. Materials and Methods: Patients with azoospermia who referred to Ege University, Faculty of Medicine Department of Urology and Ege University, Family Planning and Infertility Research and Application Center between January 2009 and March 2019 were enrolled to the study. Among these patients, cases with normal karyotype and with AZF microdeletion were analyzed retrospectively by collecting clinical data including hormone profile, demographic characteristics and micro-TESE results. Results: As a result of the AZF microdeletion tests of 42 cases with 46, XY karyotype, AZFa deletion in 3 cases, AZFb deletion in 2 cases, AZFc deletion in 31 cases, AZFb + AZFc deletion in 4 cases and AZFa + AZFb + AZFc deletion in 2 cases were detected. After micro-TESE, sperm was obtained in 16 cases with AZFc microdeletion. Pregnancy was achieved in 2 cases. There was no statistically significant difference between the type of deletion and age, height, weight, body mass index, hormone profile and testicular volume. Conclusion: In our study, the highest number of patients in the Turkish population, which fully evaluated the micro-TESE results, hormonal and demographic data was reached in 42 patients with AZF microdeletions and with normal karyotype. Also, genotype-phenotype correlation was found to be consistent with the literature; particularly patients having AZFc deletions were found to have a chance for pregnancy.
Açıklama
Anahtar Kelimeler
AZF, Mikrodelesyon, İnfertilite, Mikro-TESE, Microdeletion, Infertility, Micro-TESE
