THE ROLE OF THE Y CHROMOSOME IN MALE INFERTILITY

2004 ◽  
Vol 11 (2-3) ◽  
pp. 67-85 ◽  
Author(s):  
NABEEL A AFFARA
Keyword(s):  
Male Infertility ◽  
Y Chromosome

scholarly journals The role of modern technologies in the management of azoospermia using microdissection TESE in the framework of the ECF-ICSI program. A literature review. Part I.

2012 ◽  
Vol 58 (5) ◽  
pp. 66-74
Author(s):  
I I Vitiazeva ◽  
S V Bogoliubov ◽  
I I Dedov
Keyword(s):  
Prognostic Factors ◽  
Literature Review ◽  
Male Infertility ◽  
Y Chromosome ◽  
Modern Methods ◽  
Modern Classification ◽  
Modern Technologies ◽  
Azf Region

The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.

The role of the Y chromosome in male infertility

2001 ◽  
Vol 3 (3) ◽  
pp. 1-16 ◽  
Author(s):  
Nabeel A. Affara
Keyword(s):  
Cell Differentiation ◽  
Male Infertility ◽  
Germ Cell ◽  
Candidate Gene ◽  
Y Chromosome ◽  
Comparative Data ◽  
Male Germ Cell ◽  
Functional Genes ◽  
Germ Cell Differentiation

It was suggested by Ronald Fisher in 1931 that genes that benefit the male (including those required for spermatogenesis) would accumulate on the Y chromosome. Following the discovery that microdeletions of the Y chromosome were associated with diverse spermatogenic phenotypes, at least three intervals that contain one or more genes controlling male germ-cell differentiation have been identified in humans. These intervals, named AZFa, AZFb and AZFc, have been mapped, cloned and examined in detail for the presence of functional genes. In this review, I have discussed the genes that map to the AZF intervals and the evidence indicating which ones are the most likely candidates underlying Y-linked male infertility. In addition, I have considered the analysis of key intervals on the mouse Y chromosome, where it provides comparative data supporting the role of a candidate gene in an infertility phenotype.

scholarly journals The role of Y chromosome deletions in male infertility

2000 ◽  
pp. 418-430 ◽  
Author(s):  
K Ma ◽  
C Mallidis ◽  
S Bhasin
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Research ◽  
Gene Families ◽  
Azoospermia Factor ◽  
The World ◽  
Number Of Genes ◽  
Chromosome Deletions ◽  
Or Gene

Male infertility affects approximately 2-7% of couples around the world. Over one in ten men who seek help at infertility clinics are diagnosed as severely oligospermic or azoospermic. Recent extensive molecular studies have revealed that deletions in the azoospermia factor region of the long arm of the Y chromosome are associated with severe spermatogenic impairment (absent or severely reduced germ cell development). Genetic research into male infertility, in the last 7 years, has resulted in the isolation of a great number of genes or gene families on the Y chromosome, some of which are believed to influence spermatogenesis.

scholarly journals Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY

1999 ◽  
Vol 14 (7) ◽  
pp. 1710-1716 ◽  
Author(s):  
A. Ferlin ◽  
E. Moro ◽  
A. Garolla ◽  
C. Foresta
Keyword(s):  
Male Infertility ◽  
Candidate Genes ◽  
Y Chromosome ◽  
Human Male ◽  
Chromosome Deletions

The role of human and mouse Y chromosome genes in male infertility

2000 ◽  
Vol 23 (10) ◽  
pp. 630-645 ◽  
Author(s):  
Nabeel A. Affara ◽  
M. J. Mitchell
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Human And Mouse

The Effect of PDE5 Inhibitors on the Male Reproductive Tract

2020 ◽  
Vol 26 ◽  
Author(s):  
Nikolaos Sofikitis ◽  
Aris Kaltsas ◽  
Fotios Dimitriadis ◽  
Jens Rassweiler ◽  
Nikolaos Grivas ◽  
...  
Keyword(s):  
Male Infertility ◽  
Reproductive Tract ◽  
Tunica Albuginea ◽  
Scientific Data ◽  
Secretory Function ◽  
Pde5 Inhibitors ◽  
Male Reproductive Tract ◽  
Review Study ◽  
Phosphodiesterase 5

The therapeutic range of cyclic nucleotide phosphodiesterase 5 inhibitors (PDE5) inhibitors is getting wider in the last years. This review study focuses on the potential employment of PDE5 inhibitors as an adjunct tool for the therapeutic management of male infertility. The literature tends to suggest a beneficial effect of PDE5 inhibitors on Leydig and Sertoli cells secretory function. It also appears that PDE5 inhibitors play a role in the regulation of the contractility of the testicular tunica albuginea and the epididymis. Moreover scientific data suggest that PDE5 inhibitors enhance the prostatic secretory function leading to an improvement in sperm motility. Other studies additionally demonstrate a role of PDE5 inhibitors in the regulation of sperm capacitation process. Placebo-controlled, randomized, blind studies are necessary to unambiguously incorporate PDE5 inhibitors as an adjunct tool for the pharmaceutical treatment of semen disorders and male infertility.

scholarly journals Is there a place for nutritional supplements in the treatment of idiopathic male infertility?

2014 ◽  
Vol 86 (3) ◽  
pp. 164 ◽  
Author(s):  
Davide Arcaniolo ◽  
Vincenzo Favilla ◽  
Daniele Tiscione ◽  
Francesca Pisano ◽  
Giorgio Bozzini ◽  
...  
Keyword(s):  
Male Infertility ◽  
Sperm Count ◽  
Nutritional Supplements ◽  
Semen Parameters ◽  
Male Factor ◽  
Treatment Regimens ◽  
Idiopathic Male Infertility ◽  
Infertile Men ◽  
Wide Variability

Objective: Infertility affects 15% of couples in fertile age. Male factor is a cause of infertility in almost half of cases, mainly due to oligoasthenoteratozoospermia (OAT). The purpose of this study is to review the effects of nutritional supplements as medical treatment for idiopathic male infertility. Material and methods: A Pub Med and Medline review of the published studies utilizing nutritional supplements for the treatment of male infertility has been performed. Results: Clinical trials on Vitamin E, Vitamin A, Vitamin C. Arginine, Carnitine, N-Acetyl-Carnitine, Glutathione, Coenzyme Q10, Selenium and Zinc were reviewed. Although there is a wide variability in selected population, dose regimen and final outcomes, nutritional supplements both alone and in combination seems to be able to improve semen parameters (sperm count, sperm motility and morphology) and pregnancy rate in infertile men. Conclusions: There are rising evidences from published randomized trials and systematic review suggesting that nutritional supplementation may improve semen parameters and the likelihood of pregnancy in men affected by OAT. This improvement, however, is not consistent and there is a wide variation in the treatment regimens used. Well designed and adequately powered RCTs are needed to better clarify the role of nutritional supplements as treatment for male infertility.

scholarly journals The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies

2020 ◽  
Vol 65 (2) ◽  
pp. 40-48
Author(s):  
S. G. Vorsanova ◽  
I. V. Solovyev ◽  
O. S. Kurinnaya ◽  
V. S. Kravets ◽  
A. D. Kolotii ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Y Chromosome ◽  
Clinical Symptoms ◽  
Chromosome Instability ◽  
Psychomotor Retardation ◽  
Common Mechanism ◽  
Chromosomal Anomalies ◽  
Molecular Cytogenetic ◽  
Sex Development

The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytogenetic and molecular cytogenetic diagnosis, and also clinical polymorphism of the syndrome. The authors established the necessity of molecular cytogenetic technologies in the diagnosis of different forms of the syndrome, including mosaic forms and isodicentric chromosomes-connected forms. The severity of clinical symptoms doesn’t depend on presence of regular or mosaic forms of the syndrome. The study assumes a possible connection of clinical polymorphism with mosaisism, associated with the presence of abnormal cells (cell lines) in different tissues, together with the role of Y chromosome in the origin of mental retardation in children with Y- chromosome disomy syndrome and other chromosomal anomalies. The authors underline the necessity of molecular cytogenetic diagnosis of different forms of the syndrome for correct medical and genetic consultation.

scholarly journals Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

2008 ◽  
Vol 11 (2) ◽  
pp. 51-58
Author(s):  
A Lungeanu ◽  
A Arghir ◽  
S Arps ◽  
G Cardos ◽  
N Dumitriu ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Ambiguous Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Chromosome Y ◽  
Y Chromosomes ◽  
New Information ◽  
Pathway Perturbation

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

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