Varicocele is one of the most common diseases in the male reproductive system. More and more attention has been drawn to the influence of varicocele on male reproduction recently. Although many experiments and achievements have been made, the mechanism of infertility in varicocele patients has not yet been fully understood. The development of the disease might be related to many factors such as microcirculation of the testis, vasoactive substance, reactive oxygen species, nitric oxide, hypoxia, immunology and apoptosis. Mostly these changes are not confined to one testis. Thus, it is of great significance to investigate the mechanism of male infertility induced by varicocele. This article updates the studies on the mechanism of infertility in varicocele males.
Humans ; Infertility, Male ; etiology ; pathology ; Male ; Varicocele ; complications ; pathology

OBJECTIVESTo evaluate the relationship between sperm apoptosis and male infertility.

METHODSPercentage of apoptotic sperm (PAS) in spermatozoa of fertile and infertile men were tested by flow cytometry (FCM).

RESULTSSperm apoptosis had happened in all different people. PAS in fertile and infertile group was (4.28 +/- 1.66)% and (18.67 +/- 8.55)% respectively, and difference was significant between two groups (P < 0.01). There was negative correlation between PAS and semen volume, sperm density, percentage of forward motility, percentage of normal morphology (P < 0.01).

CONCLUSIONSThere was very close relationship between sperm apoptosis and male infertility. FCM used to test sperm apoptosis is rapid, accurate, objective and reliable to analyse sperm functions and male fertility.

Apoptosis ; Flow Cytometry ; Humans ; Infertility, Male ; pathology ; Male ; Spermatozoa ; pathology

Teratozoospermia is one of the important factors contributing to male infertility, and its pathogenesis is not yet clear. Recent years have witnessed some progress in the researches on sperm morphology, and some genes have been confirmed to be correlated with spermatogenesis. Aiming to provide some evidence for the pathogenesis of teratozoospermia, this paper reviews the relevant literature in the past five years addressing such special teratozoospermia as globozoospermia, nuclear vacuoles, decapitated spermatozoa, excessive residual cytoplasm, dysplasia of the fibrous sheath, and primary ciliary dyskinesia, and elaborates on the molecular genetic mechanisms of DPY19L2, AR, PRM1, GBA2, PCI, CREM, TH2A, TH2B, ODF1, Cntrob, OAZ-t, HOOK1, SPEM1, GAT1, PRSS21, 15-LOX, Sptrx, AKAP3, AKAP4, DNAI1, DNAH5, RSPH4A, TXNDC3, CCDC39, LRRC6, LRRC50, KTU and so on. Meanwhile, this review also presents an overview on the latest advances in assisted reproductive technology and its outcomes in the treatment of teratozoospermia patients in order to provide a theoretical basis for the diagnosis and treatment of male infertility.
Humans ; Infertility, Male ; genetics ; Male ; Membrane Proteins ; genetics ; Spermatozoa ; pathology

Globozoospermia, as a severe teratozoospermia caused by gene mutations, is a rare congenital disease with main clinical manifestations of the round head of sperm and abnormality or absence of acrosome, and its precise mechanism is not yet clear. Studies show that the pathogenic genes associated with globozoospermia include SPATA16, PICK1, GOPC, Hrb, Csnk2a2 and bs. This paper outlines the progress in the studies of molecular genetics of globozoospermia, aiming to contribute to the molecular diagnosis and mechanism investigation of the disease.
Acrosome ; Humans ; Infertility, Male ; genetics ; pathology ; Male ; Mutation ; Spermatozoa ; abnormalities

OBJECTIVETo examine the semen quality and the sperm morphology in infertile men with varicocele.

METHODSSemen from 98 infertile men with varicocele were studied and those of 130 normal semen donors were taken as the control. Semen analysis was performed based on the methods described in the WHO manual and sperm morphology was evaluated by WHO criteria.

RESULTSA significantly reduced percentage of normal morphologic sperm and of forward progression were found in patients with varicocele comparing with those of the control (P <0.001). The head defects were observed as the predominant type of sperm malformation.

CONCLUSIONThe varicocele increases malformed sperm in ejaculates, which may result from impaired male fertility by varicocele. Sperm morphologic assessment with WHO criteria provides a sensitive and practical measurement of sperm damage in infertile men with varicocele.

Adult ; Humans ; Infertility, Male ; complications ; pathology ; Male ; Semen ; Spermatozoa ; abnormalities ; pathology ; Varicocele ; complications ; pathology

Globozoospermia syndrome is a rare teratozoospermia, with an incidence of less than 0.1%. It is characterized by round sperm head, absence of acrosome, and messy sperm body and tail, but without other special clinical features. The absence of acrosome could reduce the activation ability of oocytes, and consequently decrease their fertilization ability. The assisted reproductive technique remains the only means for such patients to produce offspring. The pathogenesis of globozoospermia syndrome is not yet clear, though it is found to be related with 4 genes in the mouse and 1 on the human autosome. This article gives an overview on the clinical features, pathogenesis and genetics of globozoospermia syndrome, as well as the fertilizability and reproductivity of such patients.
Animals ; Humans ; Infertility, Male ; etiology ; genetics ; pathology ; Male ; Mice ; Sperm Head ; pathology ; Spermatozoa ; pathology

OBJECTIVETo evaluate the relationship between sperm motility parameters and sperm morphology.

METHODSSeven hundred and eighty-three semen samples were tested. Sperm motility parameters were analyzed by computer-aided sperm analysis (CASA) , and sperm morphology assessed by automated sperm morphology analyzer (ASMA). The cases were classified based on the World Health Organization criteria. Morphologically 241 of the samples were normal and the other 542 abnormal.

RESULTSVCL, WOB, VAP of the morphologically abnormal group were significantly higher than those of the normal group (P < 0.05, P < 0.001), while MAD, LIN, STR of the abnormal group were significantly lower (P < 0.05, P < 0.001). There were significant positive correlations between the morphologically normal sperm rates and MAD, LIN, WOB, STR, and a significant negative correlation between the morphologically normal sperm rate and ALH.

CONCLUSIONMorphological abnormality of sperm is often accompanied with weak motility, which is probably attributed more to some factors that coact on both sperm motility and morphology than to the influence of sperm morphological abnormality on sperm motility.

Adult ; Humans ; Infertility, Male ; pathology ; physiopathology ; Male ; Sperm Count ; Sperm Motility ; Spermatozoa ; pathology

Acephalic spermatozoa syndrome (ASS) is one of the most severe spermatogenic failures of all infertility in men. The cognition of ASS has experienced a tortuous process. Over the past years, with the in-depth understanding of spermatogenesis and the emergence of new genetic research technologies, the unraveling of the genetic causes of spermatogenic failure has become highly active. From these advances, we established a genetic background and made significant progress in the discovery of the genetic causes of ASS. It is important to identify pathogenic genes and mutations in ASS to determine the biological reasons for the occurrence of the disease as well as provide genetic diagnosis and treatment strategies for patients with this syndrome. In this review, we enumerate various technological developments, which have made a positive contribution to the discovery of candidate genes for ASS from the past to the present. Simultaneously, we summarize the known genetic etiology of this phenotype and the clinical outcomes of treatments in the present. Furthermore, we propose perspectives for further study and application of genetic diagnosis and assisted reproductive treatment in the future.
Humans ; Infertility, Male/pathology* ; Male ; Membrane Proteins/genetics* ; Mutation ; Spermatogenesis/genetics* ; Spermatozoa/pathology*

BACKGROUNDCytogenetic and molecular studies of azoospermic and oligozoospermic males have suggested the presence of azoospermia factors (AZF) in the Y chromosome. Deletion in AZF regions has been reported to disrupt spermatogenesis and cause infertility. Several candidate genes responsible for spermatogenesis have been identified in this region and some of them are thought to be functional in human spermatogenesis. And we reported clinical and molecular studies of Y chromosome microdeletions in Chinese. This study aimed at assessing the frequency of microdeletions in Chinese men with idiopathic and nonidiopathic infertility problems and dicussing the clinical significance of the AZF region.

METHODSIn this study, we screened 143 infertile men (62 with idiopathic infertilitas and 81 with nonidiopathic infertilitas), in whom karyotype, sperm count, hormonal parameters and fine needle aspiration cytology were evaluated. Genomic DNA was extracted from the peripheral leukocytes. Molecular analysis was performed by two multiplex polymerase chain reactions (PCR) using a set of a sequence tagged sites (STS) from 3 different regions of the Y chromosome: AZFa (sY84, sY86), AZFb (sY127, sY134), AZFc (sY254, sY255).

RESULTSNineteen point four percent of idiopathic males (12/62, 19.4%) had microdeletions of either the AZFa, AZFb, AZFc or AZFb + c region. Significantly, a high frequency of microdeletions (9/81, 11.1%) was found in nonidiopathic patients with varicocele and cryptorchidism. No deletions were found in healthy fertile men. There were no significant differences in the localization and extent of deletions between idiopathic and nonidiopathic patients.

CONCLUSIONSThe knowledge of the presence of these deletions in idiopathic and nonidiopathic cases is important to understand the prognosis, better management and counsel these patients accordingly. Furthermore, a more extended screening for Y chromosome microdeletions in idiopathic and nonidiopathic men, particularly candidates for intracytoplasmic sperm injection, is recommended.

Chromosome Deletion ; Chromosomes, Human, Y ; Cryptorchidism ; genetics ; pathology ; Humans ; Infertility, Male ; genetics ; pathology ; Male ; Testis ; pathology ; Varicocele ; genetics ; pathology

The ultrastructural abnormalities of human sperm flagella can cause sperm movement disorders. Dysplasia of the fibrous sheath (DFS) is an autosomal recessive genetic disease. The affected sperm in 95-100% of the patients display short, thick and irregular tails. Transmission electron microscopy can be used to confirm the diagnosis, which reveals gross abnormal flagella, with hypertrophy and hyperplasia of the fibrous sheath, without orderly disposition in longitudinal columns and transversal ribs. The axoneme shows variable distortion or almost complete obliteration. Microtubular doublets may exhibit partial or total lack of dynein arms. The genetic etiology of DFS is not yet clear. DFS does not affect the rates of fertilization and clinical pregnancy in ICSI, but due attention should be paid to the genetic risks in the offspring of the patient.
Humans ; Hyperplasia ; complications ; pathology ; Hypertrophy ; complications ; pathology ; Infertility, Male ; Male ; Microscopy, Electron ; Sperm Motility ; physiology ; Sperm Tail ; pathology ; ultrastructure ; Spermatozoa