Association of X Chromosome Aberrations with Male Infertility-Reference-Cited by-同舟云学术

Association of X Chromosome Aberrations with Male Infertility

Published:2021-11-01 Issue:4 Volume:48 Page:69-72
ISSN:2719-5384
Container-title:Acta Medica Bulgarica
language:en
Short-container-title:

Author:

Xharra S.¹,Behluli E.²,Moder A.³,Nefic H.⁴,Hadziselimovic R.⁴,Temaj G.⁵

Affiliation:

1. Regional Hospital – Prizren , Kosovo

2. Medical Faculty, University of Prishtina , Kosovo

3. Center for Clinical Research Altenbergerstrasse , Johannes Kepler University of Linz , Austria

4. Faculty of Science , University of Sarajevo , Bosnia and Herzegovina

5. Human Genetics, College UBT, Faculty of Pharmacy , Prishtina , Kosovo

Abstract

Abstract Male infertility is caused by spermatogenetic failure, clinically noted as oligoor azoospermia. Approximately 20% of infertile patients carry a genetic defect. The most frequent genetic defect leading to azoospermia (or severe oligozoospermia) is Klinefelter syndrome (47, XXY), which is numerical chromosomal abnormality and Y- structural chromosome aberration. The human X chromosome is the most stable of all human chromosomes. The X chromosome is loaded with regions of acquired, rapidly evolving genes. The X chromosome may actually play an essential role in male infertility and sperm production. Here we will describe X chromosome aberrations, which are associated with male infertility.

Publisher

Walter de Gruyter GmbH

Link

https://www.sciendo.com/pdf/10.2478/amb-2021-0051

Reference43 articles.

1. 1. Meschede D, Lemcke B, Behre HM et al. Clustering of male infertility in the families of couples treated with intracytoplasmic sperm injection. Hum Reprod 2000, 15(7):1604-1608.10.1093/humrep/15.7.1604

2. 2. Zorrilla M & Yatsenko AN. The genetics of infertility: current status of the field. Curr Genet Med Rep. 2013, 1, 247-260.10.1007/s40142-013-0027-1

3. 3. Behre HM, Bergmann M, Simoni M et al. Source Endotext [Internet]. South Dartmouth (MA): MDText.com, p. 2000, 2015.

4. 4. Bashamboo A, Ferraz-de-Souza B, Lourenço D et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am. J. Hum. Genet. 2010, 87, 505-512.

5. 5. Ferlin A, Rocca MS, Vinanzi C et al. Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations. Fertil Steril. 2015, 104, 163. e1-169.e1.