Kromozom Analizinin Erkek ve Kadın İnfertilitesindeki Yeri

Abstract

Amaç: İnfertilite, bir yıllık düzenli korunmasız ilişkiye rağmen gebelik ve sağlıklı bebek oluşmamasına denir. Birincil infertilite, gebeliğin hiç elde edilememesine denilirken, ikincil infertilite ise daha önce sağlıklı en az bir çocuk sahibi olmuş çiftlerin gebe kalamaması olarak adlandırılır. Kromozom anomalileri hem erkek hem de kadın infertilitesinin önemli bir nedenidir. Biz bu çalışmada birincil infertilitesi olan çiftlerin kromozom analizi sonuçlarını tartışmayı amaçladık.

Gereç ve Yöntemler: Birincil infertilitesi olan 262 kadın ve 273 erkek toplam 535 kişi çalışmaya dahil edildi. Kromozom analizi periferal kan lenfositleri kullanılarak standart sitogenetik GTG bantlama tekniği kullanılarak yapıldı.

Bulgular: İki yüz elli dört kişide 46,XX, 259 kişide 46,XY olmak üzere toplam 513 kişide normal kromozom kuruluşu tespit edildi (%95,8). Sekiz hastada normal kromozom varyantı tespit edildi (%1,4). Bunun yanında 4 hastada dengeli resiprokal translokasyon, 1 hastada ise Robertsoniyan translokasyon olmak üzere 5 hastada translokasyon tespit edildi (%0.8). Üç hastada Klinefelter sendromu tespit edildi (erkek infertilitesinin %1’i). Ayrıca 2 hastada Turner sendromu varyant olan mos 45,X[11]/46,XX,i(X)(q10)[29] ve mos 45, X[10]/46,X,i(X)(q10)[10] (kadın infertilitesinin %0.7’si) saptandı. Normal kromozom varyantlarını dışlandığında geri kalan değişimlerin hasta popülasyonunda sıklığı %2.6 olarak bulundu.

Sonuç: Dengeli resiprokal ve Robertsoniyan translokasyonlar gibi yapısal kromozom anomalileri hem kadın hem de erkek infertilitesine neden olurlar. 47,XXY erkek infertilitesinde, 45,X/46,X,i(X)(q10) Turner kromozom varyantları kadın infertilitesinde akılda tutulmalıdır. Özetle kromozom analizi hem kadın hem de erkek infertilite etiyolojisini açıklamak adına yapılması gereken önemli testlerden biridir.

Keywords

• İnfertilite
• translokasyon
• kromozom analizi
• resiprokal
• klinifelter sendromu.

THE ROLE OF CHROMOSOME ANALYSIS IN MALE AND FEMALE INFERTILITY

Abstract

Objective: Infertility is defined as absence of a healthy baby or pregnancy despite a one-year regular unprotected sexual intercourse. While primary infertility is called the absence of pregnancy at all, secondary infertility is called inability of couples who have had at least one healthy child to become pregnant. Chromosome anomalies are an important cause of both male and female infertility. In this study, we aimed to discuss the results of chromosome analysis of couples with primary infertility.

Material and Methods: A total of 535 people, 262 women and 273 spouses with primary infertility, were included in the study. Chromosome analysis was performed using standard cytogenetic GTG banding technique using peripheral blood lymphocytes.

Results: Normal chromosome establishment was detected in 513 people, 46,XX in 254 people, 46,XY in 259 people (95.8%). Eight patients had a normal chromosome variant (1.4%). In addition, translocation was detected in 5 patients (0.8%); in 4 patients, balanced reciprocal translocation and in 1 patient, Robertsonian translocation. Klinefelter syndrome was detected in 3 patients (1% of male infertility). In addition, we detected Turner syndrome variants, mos 45,X[11]/46,XX,i (X)(q10)[29] and mos 45,X[10]/46,X,i(X)(q10)[10] (0.7% of female infertility) in two cases. If normal chromosome variants are excluded, the frequency of the remaining changes in the patient population is 2.6%.

Conclusion: Structural chromosomal anomalies such as balanced reciprocal and Robertsonian translocations cause both female and male infertility. 47,XXY should be kept in mind for male infertility and 45,X/46,X,i(X)(q10) Turner chromosome variants should be kept in mind in female infertility. In summary, chromosome analysis is one of the important tests that should be done to explain the etiology of both male and female infertility.

Keywords

• Infertility
• translocation
• chromosome analysis
• reciprocal
• Klinifelter syndrome.

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