Gruppo Krausz
Research Team’s name “Androgenetics and onco-andrology Unit”
Coordinator Prof. Csilla Krausz
Brief Biographical sketch of the Coordinator
Professor in Endocrinology and research team leader at the University of Florence, Italy and co-director of the Florence European Academy of Andrology (EAA) Training Center. Obtained her MD cum laude and her specialization in Endocrinology at the University of Florence, Italy, and her PhD in Human Genetics at the Pasteur Institute/University Paris 7, France. She is and EAA certified clinical andrologist.
She has authored >170 scientific publications in international peer-reviewed journals and her H-index:77. Her major clinical and research interest is in male infertility, reproductive endocrinology and andro-genetics.
She is an Academician of the EAA and was the President of the EAA from 2014-2022. She has served the European Society of Endocrinology as the Clinical Lead of the Reproductive Endocrinology focus area from 2017-2021. She is the current President of the International Society of Andrology (ISA).
Member of the Scientific Board the Doctorate/Phd Program in
- SCIENZE BIOMEDICHE, University of Florence, Italy
Member of the following Scientific Societies
- European Academy of Andrology (EAA) – Academician
- Società Italiana di Endocrinologia (SIE); 2013-2017 member of the Executive committee
- Società Italiana di Andrologia Medica e Sessuologia (SIAMS)
- European Society of Endocrinology (ESE);
- Hungarian Society of Andrology (MATT) – Honorary Member
- Hungarian Society of Urology MUT) (honorary member)
- Hungarian Oncology Society (MOT) – Honorary Member
Member of editorial board of the following Journals
- International Journal of Andrology (Associate Editor) – 2004-2014
- Human Reproduction (Associate Editor) – 2004-2007
- Basic and Clinical Andrology (Associate Editor) – from 2013 to date
- Andrology (member of the Editorial board) – from 2014 to date
Research Team
- Ginevra Farnetani, PhD
- Viola Bonini, PhD student
- Chiara Abrardo, MSc
- Matteo Vannucci, MD
- Luca Bressan, MD
Current research interest
Genetics of male infertility:
- Discovery and validation of monogenic causes through next-generation sequencing approaches (WES and gene panels)
- Y chromosome microdeletions and mosaic loss of Y chromosome
- X chromosome linked azoospermia
- Genetics of rare endocrine diseases; congenital hypogonadotropic hypogonadism
Onco-andrology:
- Search for monogenic causes or predisposing candidate genes for testicular germ cell tumour (TGCT) through next-generation sequencing approaches (WES)
- Effect of cytotoxic treatments on the sperm genome and epigenome
- gr/gr deletion of the Y chromosome and testis cancer
Key words
Genetics; Male Infertility; Testicular Germ Cell Tumour; testis cancer, Non-Obstructive Azoospermia; epigenetics
Current/recent sources of funding
HORIZON-MISS-2024-CANCER-01-05 (PredictAYA)
PRIN 2022-2024, Italian Ministry of Instruction and Research
10 most relevant pubblications of the last 5 years
- Krausz C, Abrardo C, Rosta V, Moreno-Mendoza D, Bressan L, Vannucci M, Passerotti R, Meacci A, Farnetani G, Bonini V, Corona G, Fino MG, Ruiz-Castañé E, Riera-Escamilla A. Broader Familial Cancer Risk in Relatives of Testicular Cancer Patients: Insights From Two Mediterranean Populations. Andrology. 2026. doi: 10.1111/andr.70211.
- Riera-Escamilla A, Arafa MM, Farnetani G, Xavier MJ, Oud MS, Majzoub AA, Ramos L, Abrardo C, Spinelli M, Moreno-Mendoza D, Defazio G, Ars E, Pybus M, Sánchez Curbelo JR, Elbardisi HT, Nawaz S, Syed N, Ruiz-Castané E, van der Heijden GW, Fakhro KA, Veltman JA, Krausz C. Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia. Hum Reprod Open. 2025. doi: 10.1093/hropen/hoaf049.
- Stallmeyer B, Bühlmann C, Stakaitis R, Dicke AK, Ghieh F, Meier L, Zoch A, MacKenzie MacLeod D, Steingröver J, Okutman Ö, Fietz D, Pilatz A, Riera-Escamilla A, Xavier MJ, Ruckert C, Di Persio S, Neuhaus N, Gurbuz AS, Şalvarci A, Le May N, McEleny K, Friedrich C, van der Heijden G, Wyrwoll MJ, Kliesch S, Veltman JA, Krausz C, Viville S, Conrad DF, O'Carroll D, Tüttelmann F. Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility. Nat Commun. 2024. doi: 10.1038/s41467-024-50930-9.
- Farnetani G, Vannucci M, Fino MG, Cioppi F, Rosta V, Palma M, Tamburrino L, Vinci S, Casamonti E, Degl'Innocenti S, Spinelli M, Abrardo C, Marchiani S, Lotti F, Muratori M, Riera-Escamilla A, Krausz C. Severe sperm DNA fragmentation may persist for up to 3 years after cytotoxic therapy in patients affected by Hodgkin lymphoma and non-Hodgkin lymphoma. Hum Reprod. 2024. doi: 10.1093/humrep/dead269.
- Wyrwoll MJ, van der Heijden GW, Krausz C, Aston KI, Kliesch S, McLachlan R, Ramos L, Conrad DF, O'Bryan MK, Veltman JA, Tüttelmann F. Improved phenotypic classification of male infertility to promote discovery of genetic causes. Nat Rev Urol. 2024. doi: 10.1038/s41585-023-00816-0.
- Krausz C, Navarro-Costa P, Wilke M, Tüttelmann F. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023. Andrology. 2024. doi: 10.1111/andr.13514.
- Farnetani G, Fino MG, Cioppi F, Riera-Escamilla A, Tamburrino L, Vannucci M, Rosta V, Vinci S, Casamonti E, Turki L, Degl'Innocenti S, Spinelli M, Marchiani S, Lotti F, Muratori M, Krausz C. Long-term effect of cytotoxic treatments on sperm DNA fragmentation in patients affected by testicular germ cell tumor. Andrology. 2023. doi: 10.1111/andr.13429.
- Chan D, Oros Klein K, Riera-Escamilla A, Krausz C, O'Flaherty C, Chan P, Robaire B, Trasler JM. Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer. Clin Epigenetics. 2023. doi: 10.1186/s13148-022-01417-1.
- Riera-Escamilla A, Vockel M, Nagirnaja L, Xavier MJ, Carbonell A, Moreno-Mendoza D, Pybus M, Farnetani G, Rosta V, Cioppi F, Friedrich C, Oud MS, van der Heijden GW, Soave A, Diemer T, Ars E, Sánchez-Curbelo J, Kliesch S, O'Bryan MK, Ruiz-Castañe E; GEMINI Consortium; Azorín F, Veltman JA, Aston KI, Conrad DF, Tüttelmann F, Krausz C. Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure. Am J Hum Genet. 2022. doi: 10.1016/j.ajhg.2022.06.007.
- Csilla Krausz, Antoni Riera-Escamilla, Daniel Moreno-Mendoza, Kaylee Holleman, Francesca Cioppi, Ferran Algaba, Marc Pybus, Corinna Friedrich, Margot J. Wyrwoll, Elena Casamonti, Sara Pietroforte, Liina Nagirnaja, Alexandra M. Lopes, Sabine Kliesch, Adrian Pilatz, Douglas T. Carrell, Donald F. Conrad, Elisabet Ars, Eduard Ruiz-Castañé, Kenneth I. Aston, Willy M. Baarends, Frank Tüttelmann, Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men, Genetics in Medicine, 2020 (doi: 10.1038/s41436-020-0907-1)
Main scientific contributions
- Discovery of 7 novel genes causing meiotic arrest (diagnostic and pre-TESE prognostic value) (doi: 10.1038/s41436-020-0907-1)
- Discovery of 21 novel X chromosome genes ( doi: 10.1016/j.ajhg.2022.06.007)
- First demonstration of long term effect of chemotherapy on sperm DNA integrity (doi: 10.1093/humrep/dead269)
- Definitin of a subgroup of patients affected by SCOS with high risk for late onset Fanconi anemia (doi: 10.1038/s41436-018-0037-1)
- The prognostic value of AZF deletions in azoospermic men (doi: 10.1093/humrep/15.7.1431)
- The X chromosome-linked CNV burden in infertile men (doi: 10.1371/journal.pone.0097746)
- The first X chromosome linked recurrent deletions in spermatogenic failure (doi: 10.1136/jmedgenet-2013-101988)
- The first demonstration that short ano-genital distance in male is a significant risk factor for testis cancer (doi.org/10.1111/andr.12863)
Collaborations
International
- Wellcome Sanger Institute (Prof. Raheleh Rahbari), Cambridge, UK
- Qatar University and Sidra Medicine (Prof. Khalid Fakhro and Prof Mohamed Arafa), Doha, Qatar
- Fundacio Puigvert (Dr Ruiz-Castané and Dr E. Ars), Barcelona, Spain
- International Male Infertility Genomics Consortium (IMIGC) (http://www.imigc.org/)
- Genetics of Male Infertility Initiative (GEMINI) (https://gemini.conradlab.org/)
National
- Prof. Donatella Paoli, Università degli Studi di Roma “La Sapienza”
- Prof. Valentina Gatta, Università degli Studi "G. d'Annunzio" Chieti
Ultimo aggiornamento
04.06.2026