F Lanzafame

University of Catania, Catania, Sicily, Italy

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Publications (8)9.66 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Genetic causes can be directly responsible for various clinical conditions of male infertility and spermatogenic impairment. With the increased use of assisted reproduction technologies our understanding of genetic basis of male infertility has large implications not only for understanding the causes of infertility but also in determining the prognosis and management of such couples. For these reasons, the genetic investigations represent today an essential and useful tool in the treatment of male infertility. Several evidences are available for the clinical practice regarding the diagnosis; however, there are less information relative to the treatment of the genetic causes of male infertility. Focus of this review is to discuss the main and more common genetic causes of male infertility to better direct the genetics investigation in the treatment of spermatogenic impairment.
    Journal of endocrinological investigation 01/2014; 37(5). · 1.65 Impact Factor
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    P Asero, S La Vignera, F Lanzafame
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    ABSTRACT: Endocrinologia della Riproduzione, Ospedale Garibaldi (centro), Università di Catania; * Respon-sabile Centro Territoriale di Andrologia, AUSL 8, Siracusa Key words Genetic causes • Male infertility • Sperma-togenesis • Medically assisted procreation techniques Summary Objectives. Genetic causes can be directly responsible for various clinical conditions of male infertility. In this review, we shall discuss the various ge-netic causes that have acquired considerable importance from the viewpoint of infertility, whether male and/or of the couple, thus contributing to accom-plishing more accurate diagnoses. Material and methods. We performed a review of published in scientific journals and literature using as key words "genetic causes" "male infertility", "spermatogenesis", "medically assisted procreation techniques" and similar words. Results. It is known that 10-15% of cases of azoospermia and severe oligozoospermia are genetically-based, represented mostly by Klinefelter's syndrome (KS) and by the microdeletions of the Y chromosome. The prevalence of KS among infertile men is considerably high: up to 5% in the cases of severe oligozoospermia and up to 10% in cases of azoospermia. The microdeletions of the AZF region, the second most common cause of male infertility, determine a severe primitive testiculopathy with consequent azoospermia or severe oligozoospermia. With regard to the chromosomal alterations, the predominating anomalies are those associated with the sex chromosomes. However, a wide range of structural autosomal anomalies has been identified such as Robertsonian and reciprocal translocations, inversions, duplications and deletions, that can be associated with infertility. Lastly, mutations in single genes can be directly responsible for male infertil-ity, such as the gene CFTR which, once mutated, causes cystic fibrosis and the 'non-formation' of the vas deferens; the gene KAL 1, which is responsible for Kallmann's syndrome; the gene which codifies the receptor of androgens that, once mutated, causes syndromes of insensitivity to androgens and alterations of spermatogenesis and lastly the genes INSL3-RXFP2, the muta-tions of which are associated with anomalies in the descent of the testicles, as in cryptorchidism. Conclusion. Genetic anomalies have assumed enormous clinical impor-tance, not only because they may cause infertility in the offspring, but also and mainly because they are capable of causing more severe illnesses. The high frequency of genetic alterations in infertile couples demands appropri-ate and correct diagnosis of these patients in order to reduce the risk of transmitting genetic anomalies to the offspring. Whether to undertake genetic investigations and if so, which in particular, may be indicated through detailed clinical assessment.
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    ABSTRACT: Different authors showed clear correlations between diabetic disease and male reproductive damage (es. rate of nuclear DNA fragmentation, mithocondrial DNA mutations, increased of enzymatic glication products, etc...). The aim of this observational study carried out on a selected group of diabetic patients (average age 36) with primary infertility was to determine reactive oxygen species (ROS) production in sperm in connection with duration of disease, glicemic control and seminal vescicular emptying in the post ejaculatory. All diabetic patients enrolled (20) were submitted to two consecutive spermiograms, ROS sperm analysis and transrectal ultrasound evaluation before and after ejaculation, performed according to standard conventional methods. Diabetic patients with better glicometabolic compensation (HBAI C < 7%) and duration of disease <5 years showed spermatic rate of ROS production significantly lower regarding the group with worse glicemic control and greater duration of disease. Diabetic patients with altered vescicular emptying in the post ejaculatory showed spermatic rate of ROS production significantly higher regarding patients with normal vescicular emptying. The degree of oxidative stress in sperm of diabetic patients follows the course of the other chronic complications, getting worse in connection with duration of disease and glicemic control. Altered vescicular emptying in the post ejaculatory could be an important mechanism for initiation of this higher response.
    Archivio italiano di urologia, andrologia: organo ufficiale [di] Società italiana di ecografia urologica e nefrologica / Associazione ricerche in urologia 12/2009; 81(4):245-7.
  • Francesco M Lanzafame, Sandro La Vignera, Enzo Vicari, Aldo E Calogero
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    ABSTRACT: Oxidative stress (OS) has been recognized as one of the most important cause of male infertility. Despite the antioxidant activity of seminal plasma, epididymis and spermatozoa, OS damages sperm function and DNA integrity. Since antioxidants suppress the action of reactive oxygen species, these compounds have been used in the medical treatment of male infertility or have been added to the culture medium during sperm separation techniques. Nevertheless, the efficacy of such a treatment has been reported to be very limited. This may relate to: (i) patient selection bias; (ii) late diagnosis of male infertility; (iii) lack of double-blind, placebo-controlled clinical trial; and/or (iv) use of end-points that are not good markers of the presence of OS. This review considers the effects of the main antioxidant compounds used in clinical practice. Overall, the data published suggest that no single antioxidant is able to enhance fertilizing capability in infertile men, whereas a combination of them seems to provide a better approach. Taking into account the pros and the cons of antioxidant treatment of male infertility, the potential advantages that it offers cannot be ignored. Therefore, antioxidant therapy should remain in the forefront of preventive medicine, including human reproductive medicine.
    Reproductive biomedicine online 11/2009; 19(5):638-59. · 2.68 Impact Factor
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    ABSTRACT: In the management of the chronic complications caused by diabetes mellitus, an important role is played to andrological problematics, which require a specialistic evaluation combined in order to concretely contribute to the improvement of quality of life of such patients. The erectile disfunction in the diabetic patient notoriously correlates with the main cardiometabolics risk factors, and recently it has been pointed out how after chronic use of inhibitors of the phospodiesterase-enzyme-5 (PDE5-I) it is possible to improve the vascular response profile, evaluated through ecolor doppler (ECD) penile dynamic. The incidence of the vascular extra-genital pathology in the patients with ED of organic arterial type has also been observed, underlining in particular the correlation with a low value of the systolic peak at penile level. Little attention has been paid to other andrologic pathologies that preliminary clinic evidences or less followed research points have individuated as real emerging problems; among them there are: 1) the hypogonadism in adult age (late onset hypogonadism); 2) the lower urinary tract symptoms (LUTS) correlated to the condition of prostatic hypertrophy; 3) the infections of the male genito-urinary tract with different characterization for imaging respect to the not diabetic population; 4) different sexual disorders; 5) implications over the male reproductive sphere. Retrospective analysis of the clinic, laboratory (spermatic, microbiologic and hormonal), ultrasonography integrated data, led on a diabetic population examined during the last 3 years; finalized at the estimation of the distribution of the andrological pathology characterizing such population, with the comparison of the data on the basis of years of duration disease, grade of glicometabolic compensation and levels of total testosterone. ED was present in 16.36% of the examined population; 50% showed vascular arterial form; hypogonadism was present in 10% of the population. A very high prevalence of subfertility was observed 51.82%. The ultrasonographic characterization of the didimo-epididimary and prostatic-vesicular regions showed reduced testicular volume the 16.36% of cases, increase of the prostatic glandular volume in 45.45% of cases, altered thickness of the seminal vesicles in the 24.45% of cases. The microbiologic characterization evidences the contemporary positivity of the 3 prechosen indicators (spermiocolture, urinocolture, leukocytospermia) in 34.55% of patients. The study has contributed to enrich the data relative to the heterogeneity of the clinic-andrological presentation of the diabetic patient.
    Minerva endocrinologica 04/2009; 34(1):1-9. · 1.32 Impact Factor
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    ABSTRACT: Recently, the clinic characterization of the gonadic male function has been put in tight correlation on the pathogenetic level with the main variables forming the condition of metabolic syndrome (MS); probably the serum testosterone (T) concentration in males is to be considered as an additional parameter completely related to the traditional clinical-metabolic findings. Currently the matter of the substitutive hormonal therapy with androgens is apparently influenced by some important unresolved aspects: 1) who really benefits from the T therapy? 2) are the actual dosage methods of T reliable? 3) which vascular and metabolic targets are to be monitored during the T therapy? In an analytical longitudinal study, carried out 12 months long on 60 men (average age 58 years, range 54-63 years) affected by metabolic syndrome (MS) and combined hypogonadism late onset (LOH), authors have evaluated the clinical response (androgenic asset, non-invasive hospital monitoring of the arterial pressure, lipidic asset study, body composition and the biologic resistance to the insulinic action) after conventional medical therapy (insulin-sensibilizing and anti-hypertensive) and after substitutive hormonal therapy with testosterone (T) by transdermic way. A group of five patients with MS and LOH, not treated, was used as group of control. The group of patients treated with T showed a profile of clinical response better than the group of controls. In conclusion, the seric determination of T is useful to better characterize the dismetabolic patient at the moment of the first level active medical therapy planning on the controls of the main risk factors constituting MS, expressing a potential role of conditioning.
    Minerva endocrinologica 10/2008; 33(3):159-67. · 1.32 Impact Factor
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    ABSTRACT: A method has been developed for quantifying the residual cytoplasm present in the midpiece of human spermatozoa, based upon the imaging of NADH oxidoreductase activity. This procedure used NADH and nitroblue tetrazolium as electron donor and acceptor, respectively, and resulted in the discrete staining of the entire midpiece area, including the residual cytoplasm. Image analysis techniques were then used to generate binary images of the midpiece, from which objective measurements of this cellular domain could be undertaken. Such data were found to be highly correlated with biochemical markers of the cytoplasmic space, such as creatine kinase (CK) and glucose-6-phosphate dehydrogenase (G-6-PDH), in sperm populations depleted of detectable leukocyte contamination. Morphometric analysis of the sperm midpiece was also found to reflect semen quality in that it predicted the proportion of the ejaculate that would be recovered from the high-density region of Percoll gradients and was negatively correlated with the movement and morphology of the spermatozoa in semen. Variation in the retention of excess residual cytoplasm was also associated with differences in the functional competence of washed sperm preparations, both within and between ejaculates. Thus, within-ejaculate comparisons of high- and low-density sperm subpopulations revealed a relative disruption of sperm function in the low-density fraction. This disruption was associated with the presence of excess residual cytoplasm in the midpiece, high concentrations of cytoplasmic enzymes, and the enhanced-generation reactive oxygen species (ROS). Functional differences between individual high-density Percoll preparations were also negatively correlated with the area of the midpiece and the corresponding capacity of the spermatozoa to generate ROS. These findings suggest that one of the factors involved in the etiology of defective sperm function is the incomplete extrusion of germ cell cytoplasm during spermiogenesis as a consequence of which the spermatozoa experience a loss of function associated with the induction of oxidative stress.
    Journal of Andrology 05/1996; 17(3):276-87. · 1.69 Impact Factor
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    ABSTRACT: Cryptorchidism is the most frequent defect of the male urogenital tract at birth. It represents a risk factor for primitive testiculopathy associated with long-term complications (infertility, testicular neoplasia, and hormonal changes). An only consensus exists: "children with bilateral cryptorchidism who are not treated in early age are certainly set to become infertile". The majority of Authors agrees that the cryptorchid testicle will be in for structural and functional alterations and the rate of infertility is inversely proportional to the age at the time of orchidopexy. Cryptorchidism causes secretory primitive testicular pathology responsible for infertility. It is correlated to a non-specific severe histopathological pattern that can be useful to predict future infertility at the moment of orchidopexy. Also cryptorchidism represents the major risk factor associated with germ cell testicular neoplasia (5-10 times more probably than a normal testicle) due to genetic, hormonal, environmental factors.
    European review for medical and pharmacological sciences 13(5):351-6. · 0.99 Impact Factor

Publication Stats

233 Citations
9.66 Total Impact Points


  • 2008–2010
    • University of Catania
      • Department of Biomedical Sciences (BIOMED)
      Catania, Sicily, Italy
  • 1996
    • MRC Mitochondrial Biology Unit
      Cambridge, England, United Kingdom