Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome

Trakya Bölgesi̇ Erkek İnferti̇li̇te Olgularinda Y Kromozom Mi̇krodelesyonlari Ve Si̇togeneti̇k Anomali̇leri̇n Sikliği: Tek Merkez Deneyi̇mi̇

“…AZF delesyonları, büyük ihtimalle inter-kromozomal tekrar dizilerinin yeniden düzenlenmesi sırasında oluşmaktadır. Bu mikrodelesyonlar, erkek infertilitesinin Klinefelter sendromundan sonra ikinci en sık nedenidir (9). Y mikrodelesyonu sperm değerleri normal olan erkeklerde görülmemektedir, mikrodelesyon saptanan olgular azoospermiktir veya sperm sayısı genellikle ml'de 2 milyonun altındadır.…”

Case – Severely oligozoospermic patient with both mosaic Klinefelter syndrome and a complete AZFc Y chromosome microdeletion

“…However, of the limited studies on combined KS and YCMs, no cases to date have identified sperm in the ejaculate, making this case extremely unique. 10,11,12,13 This case also encourages further investigations to more clearly determine the relationship between Klinefelter syndrome and Y chromosome microdeletions.…”

“…The literature describing the genetic relationship between either mosaic or non-mosaic Klinefelter syndrome and Y chromosome microdeletions is unclear. Certain studies have found no association between KS and classical YCM 10,11 whereas others propose an association. 12,13 In the aforementioned studies, all patients with either mosaic or non-mosaic KS and a YCM were azoospermic.…”

Karyotypic abnormalities and molecular analysis of Y chromosome microdeletion in Iranian Azeri Turkish population infertile men

“…AZF deletions probably occurred due to inter-chromosomal repeat sequence rearrangement. These deletions are the most frequent genetic cause of male infertility after Klinefelter syndrome (Sciarra et al 2019). It has also been reported that AZFa, AZFb, and AZFc deletions are associated with lack of germ cells, germ cell arrest in meiosis I prophase and decreased spermatogenesis or sperm growth arrest, respectively (Yu et al 2015).…”