Impotence and sterility, with aberrations of the sexual function and sex-gland implantation

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The term PCD describes the genetic defect differentiating it from other acquired defects Carson et al. Seminal analysis in primary CDS demonstrates a normal number of viable but immotile spermatozoa. Spermatozoa of patients with PCD have usually decreased motion to varying degrees or are even completely motionless with defective morphology. ICSI represents currently the only therapeutic approach to this condition but with poorer outcomes Abu-Musa et al.

These abnormalities may also enhance the risk of genetic defects in the offspring, and the genetic evaluation of the spermatozoa is highly suggested prior to ICSI procedures Abu-Musa et al. Maturation process of spermatozoa demands their interaction with proteins that are synthesized and secreted by the epididymis Toshimori Posttranslational changes of existing sperm proteins are crucial for the spermatozoon to acquire its fertilizing potential.

Phosphorylation and glycosylation are common posttranslational changes that sperm proteins undergo during their passage through the epididymis resulting in modifications in protein function resulting to the development of mature spermatozoa Cornwall Reactive oxygen species ROS play a key role in the physiology of the sperm function. Normal quantitative profiles of ROS are involved in the initiation and development of several sperm functions including sperm hyperactivation, sperm capacitation, and acrosome reaction de Lamirande and Gagnon ; Griveau et al.

On the other hand, an overproduction of ROS leads in oxidative damage of sperm membrane lipids, sperm proteins, and sperm DNA Alvarez and Storey ; Aitken resulting in decreased motility, damaged acrosomal membranes, and thus inability of the spermatozoon to fertilize the oocyte. Poor sperm and decreased motility have been associated with mutations in the mitochondrial DNA Ruiz-Pesini et al. Mitochondrial DNA is exclusively inherited by the oocyte, and therefore there is an interesting probability that some types of male infertility are transmitted only through the mother Danan et al.

The term immune infertility refers to spontaneously occurring antibodies which bind to antigens of the spermatozoa impairing the interaction between sperm and oocyte. The expression of antisperm antibodies is associated with certain HLA classes Omu et al. Abnormalities in the development of the formation of the blood—testis barrier may result in the formation antisperm antibodies Bohring and Krause Antisperm antibodies are observed in men with testicular tissue injury i.

Other common reasons include infections and obstruction of sperm transport, for example, in men after vasectomy or in men diagnosed with CF or congenital agenesis of VD. In all these later conditions, the immune equilibrium within the testis may be altered Sotolongo ; Vazquez-Levin et al. The diagnostic approach is based mainly on mixed antiglobulin reaction test and immunobead binding test that are used for detection of antisperm antibodies. Antisperm antibodies may affect sperm motility and viability, sperm—oocyte interaction, early embryonic development, embryonic capacity for implantation, and fetal development Ohl and Naz ; Chiu and Chamley Antisperm antibodies also affect sperm capacitation process, spermatozoal ability to undergo the acrosomal reaction and to bind to and penetrate the zona pellucida of the female gamete Shibahara et al.

Currently, there is no standardized therapeutic option, and the actual clinical meaning of antisperm antibodies in infertile men is still debatable Silva et al. However, a significant increase in pregnancy rates was found among antisperm antibody-positive men receiving prednisolone for more than 3 months compared to placebo group Hendry et al.

In addition assisted reproductive technologies are the treatment of choice for male infertility associated with antisperm antibodies. Other systemic medications that have been proposed include immunosuppressive agents azathioprine or intravenous cyclophosphamide and intravenous immunoglobulin Silva et al. Bacterial pathogens in seminal plasma can reduce sperm motility, induce apoptosis or necrosis, alter sperm morphology, and thus affect directly sperm quality Villegas et al.

Impotence and sterility, with aberrations of the sexual function and sex-gland implantation

Major bacterial sexually transmitted disease organisms affecting semen include Chlamydia trachomatis , Neisseria gonorrhoeae , Mycoplasma spp. Other pathogens include protozoal infections mainly Trichomonas vaginalis and viral infections such as human papillomavirus , herpes simplex virus , hepatitis B and C viruses , and human cytomegalovirus Dejucq and Jegou ; Kalichman et al. Antiviral and antiretroviral therapies may also induce testicular damage with deleterious effects on sperm quality Lorusso et al. Erectile dysfunction, rather than infertility cause, represents a factor making conception very difficult.

For the majority of men, erectile dysfunction is a greater problem than infertility. The enormous success of phosphodiesterase type 5 inhibitors in the modern industrial world and the plethora of aphrodisiac potions around the world suggest that for most men, the desire for erections is a more immediate and pressing concern than maximizing their fecundity. Furthermore, erectile dysfunction may lead to psychological distress, feeling of sexual failure, and lower self-esteem Wibowo et al. Functional blockages such as functional obstruction of the SV, spinal cord injury, or sympathetic nerve injury.

Ejaculatory duct obstruction EDO has been originally diagnosed in men with azoospermia with complete ductal obstruction, but a larger number of patients have oligoasthenospermia; the latter is characteristic of partial EDO. Functional EDO is a form of ejaculatory dysfunction with a similar presentation but without physical blockage Walsh and Turek Spinal cord injury SCI patients and patients after retroperitoneal lymphadenectomy experience ejaculation problems especially when the sympathetic centers which regulate the ejaculation T9—T11 and L2—L3 are damaged Chehensse et al.

Sympathectomy including bilateral removal of the T12—L2 paravertebral sympathetic ganglia is commonly associated with impaired ejaculation Courty and Franchebois ; Rose In men with SCI, spermatozoa can be collected by electroejaculation using a rectal probe or can be surgically retrieved from the epididymis or the testis Brackett et al. Premature ejaculation as defined by the International Society for Sexual Medicine may be lifelong or acquired Serefoglu et al. Treatment with tricyclic antidepressants or serotoninergic uptake inhibitors combined with sexual counseling can be very effective Turek Delayed ejaculation and anejaculation are more common as men age and have multiplex organic and psychogenic reasons.

Retrograde ejaculation or anejaculation due to surgical procedures on the retroperitoneum, bladder, or pelvis may also cause infertility Turek Hypospadias affects 0. The European Surveillance of Congenital Anomalies demonstrates a trend in raising incidence of hypospadias over a period of 10 years Loane et al. The association between reduced semen quality and hypospadias is well documented.

The most likely explanation is that fathers with reduced semen quality and their sons with hypospadias share the same susceptibility genes that govern their reproductive function Skakkebaek et al. Skip to main content Skip to sections. Advertisement Hide. Download reference work entry PDF. Testosterone secretion by testicular Leydig cells is impaired if LH and FSH stimulation is absent, and spermatogenesis is compromised.

The major diagnostic categories include isolated hypogonadotropic hypogonadism IHH and pituitary disease Fig. Open image in new window. Varicocele Varicocele represents a vascular abnormality of the venous drainage system of the testes. The abnormally dilated veins may concern either the pampiniform or the cremasterium plexus. The post-testicular causes of infertility include obstruction or stricture of the ductal system of the male reproductive tract Fig. In contrast with testicular disorders, post-testicular abnormalities are commonly treatable.

Thus, restoration of fertility potential may be possible. A certain number of patients present a history of chronic sinusitis, nonprogressive bronchitis, and pneumonia in infancy but their main complaint as adults is infertility Augarten et al. The semen parameters are similar as in men with CF disease Oates and Amos VD aplasia is accompanied by epididymal tail aplasia and several anatomical or functional abnormalities of the SV Mercier et al. Table 1 Cystic fibrosis gene CFTR mutations in men with various disorders of the seminal ducts and seminal vesicles.

Ejaculation disorders could be the result of: Functional blockages such as functional obstruction of the SV, spinal cord injury, or sympathetic nerve injury Pharmacologic drugs causing retrograde ejaculation. Nonmosaic 47,XYY syndrome presenting with male infertility: case series. Google Scholar. Hum Reprod. Effect of cell phone usage on semen analysis in men attending infertility clinic: an observational study. Fertil Steril. Insulin dependant diabetes mellitus: implications for male reproductive function. Aitken RJ. Free radicals, lipid peroxidation and sperm function.

Reprod Fertil Dev. Allanson JE. Noonan syndrome.

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Genetic, andrological and clinical characteristics of patients with congenital bilateral absence of the vas deferens. Int J Androl. Congenital bilateral absence of vas deferens in the absence of cystic fibrosis. Varicocele and male factor infertility treatment: a new meta-analysis and review of the role of varicocele repair. Eur Urol.

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Relationship to the presence of Y specific DNA-sequences. Treatment of infertility in men with spinal cord injury. AZFb deletions predict the absence of spermatozoa with testicular sperm extraction: preliminary report of a prognostic genetic test. Effect of age at the start of iron chelation therapy on gonadal function in beta-thalassemia major.

N Engl J Med. Bush A, Ferkol T. Movement: the emerging genetics of primary ciliary dyskinesia. Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: case report. History of febrile illness and variation in semen quality. Adnexal gland secretion markers in unexplained asthenozoospermia.

Arch Androl. Acquired ciliary defects in nasal epithelium of children with acute viral upper respiratory infections. Treatment of palpable varicocele in infertile men: a meta-analysis to define the best technique. J Androl. Histological evaluation of the testicular nubbin in the vanishing testis syndrome. Prospective analysis of outcomes after microsurgical intussusception vasoepididymostomy.

BJU Int. Six years of experience with microsurgical longitudinal intussusception vasoepididymostomy LIVE : a prospective analysis [abstract].

The spinal control of ejaculation revisited: a systematic review and meta-analysis of anejaculation in spinal cord injured patients. Hum Reprod Update. Clin Genet. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. Clinical associations and mechanisms of action of antisperm antibodies. Clarke BG. Incidence of varicocele in normal men and among men of different ages.

Testicular function following chemo-radiotherapy. Cornwall GA. Role of posttranslational protein modifications in epididymal sperm maturation and extracellular quality control. In: Sutovsky P, editor. Posttranslational protein modifications in the reproductive system, Advances in experimental medicine and biology.

New York: Springer; Costabile RA, Spevak M. Cancer and male factor infertility. Oncology Williston Park. Characterization of patients presenting with male factor infertility in an equal access, no cost medical system.

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Eur J Hum Genet. Coulam CB. Testicular regression syndrome. Obstet Gynecol. Courty A, Franchebois P. Presse Med. Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. Dacheux JL, Dacheux F. New insights into epididymal function in relation to sperm maturation. Myotonic dystrophy type 2. Seattle: University of Washington; — Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection.

Am J Hum Genet. Curr Opin Obstet Gynecol. De Braekeleer M, Ferec C. Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. Mol Hum Reprod. Capacitation-associated production of superoxide anion by human spermatozoa. Free Radic Biol Med. Dejucq N, Jegou B. Viruses in the mammalian male genital tract and their effects on the reproductive system. Microbiol Mol Biol Rev. Syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocrinol Metab. Nonsyndromic 46,XX testicular disorders of sex development.

Decreased expression of cystic fibrosis transmembrane conductance regulator impairs sperm quality in aged men. Effects of primary testicular damage on sperm DNA oxidative status and embryonic and foetal development. Sex differences of endogenous sex hormones and risk of type 2 diabetes: a systematic review and meta-analysis. EAU guidelines on male infertility. Human DAZL1 encodes a candidate fertility factor in women that localizes to the prenatal and postnatal germ cells.

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Abnormal distribution of CF delta F allele in azoospermic men with congenital aplasia of epididymis and vas deferens.


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Gonadotrophin replacement for induction of fertility in hypogonadal men. Chlamydial serology in asymptomatic subfertile couples. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Male infertility related to an aberrant karyotype, 47,XYY: four case reports. Cases J. Endocrine functions in sickle cell anaemia patients. J Trop Pediatr. Elder JS. Laparoscopy for impalpable testes: significance of the patent processus vaginalis. Histological evaluation of the testicular nubbins in patients with nonpalpable testis: assessment of etiology and surgical approach.

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High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Can Kallmann syndrome be occasionally diagnosed during childhood? Genetic diagnosis in a child with associated renal agenesis and mirror movements. Asian J Androl. J Med Genet.

Partial AZFc deletions and duplications: clinical correlates in the Italian population. Varicocele correction for infertility: which patients to treat? Role of testicular tissue telomerase assay for the prediction of the presence of testicular spermatozoa in azoospermic men with varicoceles, pre- and post-varicocelectomy. Giwercman A, Giwercman YL.

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Hypothalamic-pituitary-testicular function in end-stage non-alcoholic liver disease before and after liver transplantation.

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Aneuploidy in sperm and exposure to fungicides and lifestyle factors. Environ Mol Mutagen. Vasa aplasia and cystic fibrosis. Br J Urol. Natural history of testicular regression syndrome and consequences for clinical management. J Pediatr Urol. Varicocele is associated with elevated spermatozoal reactive oxygen species production and diminished seminal plasma antioxidant capacity. Comparison of prednisolone and placebo in subfertile men with antibodies to spermatozoa.

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The frequency of chromosome abnormalities detected in consecutive newborn studies- differences between studies- results by sex and by severity of phenotypic involvement. Population cytogenetics. New York: Academic; The diagnosis and treatment of the azoospermic patient in the age of intracytoplasmic sperm injection.

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Evidence that male smoking affects the likelihood of a pregnancy following IVF treatment: application of the modified cumulative embryo score. Josso N, Briard ML. Embryonic testicular regression syndrome: variable phenotypic expression in siblings. J Pediatr. European Association of Urology guidelines on Male Infertility: the update. Human immunodeficiency virus viral load in blood plasma and semen: review and implications of empirical findings. Sex Transm Dis.

Clinical and diagnostic features of patients with suspected Klinefelter syndrome. High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. Reproductive failure in males with cystic fibrosis. Kartagener M. Zur pathogene der bronkiectasein:bronkiectasein bei situs viscerum inversus. Beitr Klin Tuberk. Hypogonadism is not related to the etiology of liver cirrhosis. J Gastroenterol. Kerem B, Kerem E. The molecular basis for disease variability in cystic fibrosis.

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Impact of chronic viral diseases on semen parameters. Association of cystic fibrosis transmembrane-conductance regulator gene mutation with negative outcome of intracytoplasmic sperm injection pregnancy in cases of congenital bilateral absence of vas deferens. Lue TF. Physiology of penile erection and pathophysiology of erectile dysfunction. Campbell-Walsh urology. Philadelphia: Elsevier; Unchanged androgen-binding properties of sex hormone-binding globulin in male patients with liver cirrhosis.

Clin Chem Lab Med. Targeted disruption of luteinizing hormone beta-subunit leads to hypogonadism, defects in gonadal steroidogenesis, and infertility. Mahmoud A, Comhaire F. Systemic causes of male infertility. Testicular Descent. Hormones Athens. Seasonality of cryptorchidism and hypospadias in Greece: epidemiological relationships. Genetic analysis of the human Insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent. Screening for Y chromosome microdeletions in childhood: lack of evidence for a direct association with testicular maldescent.

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A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Chronic occupational lead exposure and testicular endocrine function. Hum Exp Toxicol. Histological evaluation of the human testis — approaches to optimizing the clinical value of the assessment: mini review.

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CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles. Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene. Milunsky A, Milunsky J. Genetic disorders and the fetus: diagnosis, prevention and treatment. Chichester: Wiley; Sex chromosome aneuploidies in sperm of 47,XYY men. Sperm ultrastructure and meiotic segregation in a group of patients with chronic hepatitis B and C. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection.

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Pediatr Endosu Innov Tech. Semen quality and oxidative stress scores in fertile and infertile patients with varicocele. Diminished paternity and gonadal function with increasing obesity in men. Peces R, Venegas JL. Reversible azoospermia: anabolic steroids may profoundly affect human immunodeficiency virus-seropositive men undergoing assisted reproduction.


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  • Causes of suspected epididymal obstruction in Chinese men. Gonadotropin dynamics in XX males. Pirgon O, Dundar BN. Vanishing testes: a literature review. J Clin Res Pediatr Endocrinol. Laparoscopy for nonpalpable testes in childhood: is inguinal exploration also necessary when vas and vessels exit the inguinal ring? Testicular dysfunction in human immunodeficiency virus-infected men. Male reproductive function in uraemia: efficacy of haemodialysis and renal transplantation. Rescue of testicular function after acute experimental torsion. Pusch H. Fortschr Med. Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.

    Association of molecular variants of luteinizing hormone with male infertility. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Role of transrectal ultrasonography in the evaluation of azoospermic men with low-volume ejaculate. J Ultrasound Med. Polymorphism for a 1. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Male genital tract injuries after contemporary inguinal hernia repair. Prevalence of hypogonadism among men with weight loss related to human immunodeficiency virus infection who were receiving highly active antiretroviral therapy.

    From spermatocytes to spermatozoa in an infertile XYY male. Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy. Noonan syndrome: clinical features, diagnosis, and management guidelines. Rose SS. An investigation into sterility after lumbar ganglionectomy. Br Med J. WHO manual for the standardized investigation, diagnosis and management of the infertile male. Cambridge: Cambridge University Press; Effect of graded doses of ionizing radiation on the human testis.

    Radiat Res. The remnant orchiectomy. Ann Oncol. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. The effect of bacterial contamination of semen on sperm chromatin integrity and standard semen parameters in men from infertile couples. Male infertility. In: Wein AJ, editor. Please enable JavaScript before proceeding:. Internet Explorer.

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