Coordinator of the Research Team
Name: Csilla Gabriella Krausz
Position: Associate Professor in Endocrinology, habilitated as Full professor
Name of Research Team: “Genetics of male infertility and onco-andrology”
telephone number 055/2758421
Brief biographical sketch of the Coordinator
1) Graduated at the Faculty of Medicine and Surgery (MD) 110/110 cum laude University of Florence
2) “Specialist in Endocrinology and Metabolic Diseases” Maximum marks cum laude (30/30 cum laude) University of Florence, Faculty of Medicine 70/70 cum laude
3) “Clinical Andrologist” of the European Academy of Andrology
4) PhD in Human Genetics (“Mention Très honorable avec felicitations du Jury”); Université Paris VII, Pasteur Institute, Paris, France; Title of the Thesis: “Y chromosome and male infertility”
5) PhD in “Endocrinology and Metabolism” University of Florence, Faculty of Medicine
Member of the scientific board of the Doctorate/PhD Program in :
1) SCIENZE BIOMEDICHE, University of Florence, Italy
Member of the following Scientific Societies
1)Academician” of the European Academy of Andrology (EAA) from 2014 President of the EAA
2) Member of the Società Italiana di Endocrinologia (SIE) from 2013 member of the Executive committee
3) Member of the Società Italiana di Andrologia Medica e Sessuologia (SIAMS)
4) Honorary Member of the Hungarian Society of Andrology (MATT)
5) Honorary member of the Hungarian Oncology Society (MOT)
Member of the editorial board of the following Journals
1) from 2004-2014 International Journal of Andrology (Associate Editor)
2) from 2004-2007 Human Reproduction (Associate Editor)
3) from 2017 Human Andrology (Associate Editor)
4) from 2013 Basic and Clinical Andrology (Associate Editor)
5) from 2014 Andrology (member of the Editorial board)
1) Vinci Serena, Post-doc, Biotechnologist
2) Guarducci Elena, Biologist
3) Casamonti Elena, PhD-student, Biotechnologist
4) Cioppi Francesca, Master Student, Biotechnologist
5) Fino Maria Grazia, biomedical laboratory technician (onco-andrology, spermatology)
6) Selene Degl’Innocenti, biomedical laboratory technician (Y chromosome analysis)
Current research interests The laboratory is dedicated to the identification of genetic factors involved in male infertility, cryptorchidism and testis cancer. The main topics are Y chromosome rearrangements and Y-linked gene copy number variations in relationship with the above pathologies. Given the specific competencies of the laboratory in Y chromosome rearrangements, the laboratory organized a multicenter study aimed to define the genetic determinants for the variable phenotype of gr/gr deletion carriers. The second relevant research topic is on genetic polymorphisms (SNPs, microsatellites and CNVs. A project on X-linked copy number variations, using a high resolution array-CGH, we are able to identify copy number variations (losses and gains) on the X chromosome with potential effect on spermatogenesis. The majority of the research projects performed in this laboratory have a clear translational feature and are aimed to implement the available diagnostic tests in male infertility. Genetic studies in men with impaired spermatogenesis are relevant also for the potential transmission of genetic anomalies to the next generation through Assisted Reproductive Techniques. Studies focusing on genetic factors involved in testis tumors are relevant for the prediction of genetic risk for this disease.
An other kind of activity carried out in our laboratory are pharmacogenetic studies on three SNPs on FSHβ and FSHR in oligo- and/or astheno- and/or teratozoospermic patients. We are evaluating the effect of cytostatic therapy on the male gamete genome . The ultimate goal of the project is to define reproductive safety in oncological patients and thus provide evidence based information for decision making concerning the type of conception (pre-therapy frozen/thawed spermatozoa in the context of in vitro fertilization) or natural pregnancy (spermatogenesis is recovered in about 80% of patients after chemotherapy).
Current / recent sources of funding
1) Istituto Toscano Tumori (ITT)
2) Ente Cassa di Risparmio di Firenze (2015)
3) PRIN 2017-2020, Italian Ministry of Instruction and Research
10 best publications of the last 5 years
1. Chianese C, Fino MG, Riera Escamilla A, López Rodrigo O, Vinci S, Guarducci E, Daguin F, Muratori M, Tamburrino L, Lo Giacco D, Ars E, Bassas L, Costa M, Pisatauro V, Noci I, Coccia E, Provenzano A, Ruiz-Castañé E, Giglio S, Piomboni P, Krausz C. (2015) Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia. ANDROLOGY, vol. 3 p. 203-212.
2. Tournaye H, Krausz C, Oates RD. (2016). Concepts in diagnosis and therapy for male reproductive impairment. LANCET DIABETES ENDOCRINOL. 6. pii: S2213-8587(16)30043-2. doi: 10.1016/S2213-8587(16)30043-2. Epub
3. Krausz, Csilla; Escamilla, Antoni Riera; Chianese, Chiara. (2015). Genetics of male infertility: from research to clinic. REPRODUCTION, vol 150(5):R159-74.
4. C. Krausz, L. Hoefsloot, M. Simoni, F. Tüttelmann, E. A. of A., E. M. Genetics (2014). EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013. ANDROLOGY, vol. 2, p. 5-19, ISSN: 2047-2919 -
5. D. L. Giacco, C. Chianese, E. Ars, E. Ruiz-Castañé, G. Forti, C. Krausz (2014). Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility. JOURNAL OF MEDICAL GENETICS, vol. 51, p. 340-344
6) C. Chianese, A. C. Gunning, C. Giachini, F. Daguin, G. Balercia, E. Ars, D. L. Giacco, E. Ruiz-Castañé, G. Forti, C. Krausz (2014). X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance.. PLOS ONE, vol. 9, p. e97746-.
7). D. L. Giacco, C. Chianese, J. Sánchez-Curbelo, L. Bassas, P. Ruiz, O. Rajmil, J. Sarquella, A. Vives, E. Ruiz-Castañé, R. Oliva, E. Ars, C. Krausz (2014). Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory.. EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 22, p. 754-761
8) D. V. Libri;G. Kleinau;V. Vezzoli;M. Busnelli;F. Guizzardi;A. A. Sinisi;A. I. Pincelli;A. Mancini;G. Russo;P. Beck-Peccoz;S. Loche;C. Crivellaro;M. Maghnie;C. Krausz;L. Persani;M. Bonomi;I. S. Group. Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.(2014). JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM, vol 99(3):E458-63.
9). C. Krausz, C. Giachini, D. L. Giacco, F. Daguin, C. Chianese, E. Ars, E. Ruiz-Castane, G. Forti, E. Rossi (2012). High resolution X chromosome-specific array-CGH detects new CNVs in infertile males.. PLOS ONE, vol. 7, p. e44887-
10). C. Krausz, J. Sandoval, S. Sayols, C .Chianese, C. Giachini, H. Heyn, M. Esteller (2012). Novel insights into DNA methylation features in spermatozoa: stability and peculiarities.. PLOS ONE, vol. 7, p. e44479,
Previous research experiences Starting from 1988 at the Andrology Unit of the University of Florence: identification of sperm biochemical markers with potential predictive value on sperm fertilizing ability; signal transduction mechanisms in the male gamete; free oxygen radicals and sperm function (MRC, Edinburgh). Since 1995, Y chromosome microdeletions and haplogroups: i) demonstration of cause-effect relationship between AZF deletions and reduced sperm production (the first Double blind Y chromosome microdeletion analysis awarded by the Journal of Clinical Endocrinology and Metabolism): ii) value of different subtypes of AZF deletions; iii) Y chromosome haplogroups and their relationship to male infertility and testis cancer; iv) population genetics; v) the role of the USP9Y gene in spermatogenesis (in 2009 invited to write an editorial on New England Journal of Medicine on AZF gene specific deletions); vi) Y background and partial AZFc deletions. Since 2002: study of genetic factors (candidate gene mutations, microsatellite instability, SNPs and CNVs ) in male infertility (central and primary hypogonadism), cryptorchidism and testis cancer. Since 2009 involved in genome wide association studies.
Main scientific contributions
- Discovery of the prognostic value of AZF deletions in azoospermic men
- Discovery of the X chromosome-linked CNV burden in infertile men
- Discovery of the first X chromosome linked recurrent deletions in spermatogenic failure
-The first description of isolated USP9Y gene deletions compatible with spermatogenesis
-The first description on the correlation between Progesterone induced acrosome reaction and in vitro fertilization rate
-The first description on the correlation between ROS in seminal fluid and in vitro fertilization rate;
Dr Ruiz-Castané and Dr E. Ars, Fundacio Puigvert, Barcelona, Spain, Prof. M Esteller IDIBEL, Barcelona, Spain, Dr Bonomi and Prof L. Persani, Istituto Auxologico, Milano; Dr W. Baarends, Erasmus University , Rotterdam, the Neetherlands; Prof D Carrell, Utah University, USA
Other relevant information
The laboratory of Prof Krausz is the reference laboratory for the EMQN/EAA AZF quality control scheme and Prof Krausz is the scheme organizer for AZF deletion screening for EMQN (European Molecular Genetics Quality Network).