Ricerca Gruppi di ricerca e contributi alla ricercaThe Section of Clinical PathophysiologyGruppo Krausz

Gruppo Krausz

Laboratory androgenetics

 

Coordinator Prof. Csilla Krausz

 

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 the Doctorate/Phd Program in

• SCIENZE BIOMEDICHE, University of Florence, Italy

 

Member of the following Scientific Societies

1. Academician” of the European Academy of Andrology (EAA)
2. Member of the Società Italiana di Endocrinologia (SIE); 2013-2017 member of the Executive committee
3. Member of the Società Italiana di Andrologia Medica e Sessuologia (SIAMS)
4. Member of the European Society of Endocrinology;
5. Honorary Member of the Hungarian Society of Andrology (MATT)
6. Honorary member of the Hungarian Oncology Society (MOT)

 

International appointments:

• from 2014 President of the European Academy of Andrology, EAA (second mandatum)
• from 2010 chair of the Examination Committee of the EAA
• 2016-2020 clinical lead of the Reproductive Endocrinology focus area
• from 2018 representative of the University Hospital Careggi for the European Reference Network on Rare Endocrine Conditions (ENDOERN); responsible of rare Endocrine diseases in the Tuscan region
• from 2022: Vice-coordinator of the COST action ANDRONET

 

Member of 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 2013 Basic and Clinical Andrology (Associate Editor)
4. from 2014 Andrology (member of the Editorial board)

 

Research Team

• Ginevra Farnetani, PhD-student, Biotechnologist
• Matteo Vannucci, MD
• Matilde Spinelli MS, Biotechnologist
• Fino Maria Grazia, Biomedical laboratory technician
• External member: Antoni Riera-Escamilla, PhD, Biologist

 

Former Research Team

Former PhD students:

• Claudia Giachini, Biotechnologist
• Chiara Chianese, Biotechnologist
• Deborah Lo Giacco, Biotechnologist
• Elena Casamonti, Biotechnologist
• Antoni Riera-Escamilla (Marie Curie Network), Biologist
• Francesca Cioppi, Biotechnologist
• Viktoria Rosta, MD

 

Former post-doc/MDs:

• Elena Guarducci, Biologist
• Serena Vinci, Post-Doc, Biotechnologist
• Daniel Moreno-Mendoza, MD

 

Current research interest

• Genetics of male infertility: Y chromosome deletions, X chromosome–linked CNVs and monogenic causes, discovery of novel monogenic causes through whole exome analysis; DNA repair gene defect and azoospermia; genetic link between bone marrow failure and azoospermia
• Genetics of testicular germ cell tumour (TGCT): gr/gr deletion of the Y chromosome, exome analysis, genetic risk factors
• Genetics of rare endocrine diseases and congenital hypogonadotropic hypogonadism
• Effect of antineoplastic treatment on sperm DNA and sperm methylation

 

Current/recent sources of funding

1. Ente Cassa di Risparmio di Firenze (2015)
2. PRIN 2017-2020, Italian Ministry of Instruction and Research

 

Best pubblications of the last 5 years

1. Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018. doi: 10.1038/s41585-018-0003-3.
2. Houston BJ, Riera-Escamilla A, Wyrwoll MJ, Salas-Huetos A, Xavier MJ, Nagirnaja L, Friedrich C, Conrad DF, Aston KI, Krausz C, Tüttelmann F, O'Bryan MK, Veltman JA, Oud MS. A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships. Hum Reprod Update. 2021. doi: 10.1093/humupd/dmab030.
3. Krausz C, Riera-Escamilla A, Moreno-Mendoza D, Holleman K, Cioppi F, Algaba F, Pybus M, Friedrich C, Wyrwoll MJ, Casamonti E, Pietroforte S, Nagirnaja L, Lopes AM, Kliesch S, Pilatz A, Carrell DT, Conrad DF, Ars E, Ruiz-Castañé E, Aston KI, Baarends WM, Tüttelmann F. Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men. Genet Med. 2020. doi: 10.1038/s41436-020-0907-1.
4. Vockel M, Riera-Escamilla A, Tüttelmann F, Krausz C. The X chromosome and male infertility. Hum Genet. 2021. doi: 10.1007/s00439-019-02101-w.
5. Riera-Escamilla A, Enguita-Marruedo A, Moreno-Mendoza D, Chianese C, Sleddens-Linkels E, Contini E, Benelli M, Natali A, Colpi GM, Ruiz-Castañé E, Maggi M, Baarends WM, Krausz C. Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. Hum Reprod. 2019. doi: 10.1093/humrep/dez042.
6. Krausz C, Riera-Escamilla A, Chianese C, Moreno-Mendoza D, Ars E, Rajmil O, Pujol R, Bogliolo M, Blanco I, Rodríguez I, Badell I, Ruiz-Castañé E, Surrallés J. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med. 2019. doi: 10.1038/s41436-018-0037-1.
7. Corona G, Minhas S, Giwercman A, Bettocchi C, Dinkelman-Smit M, Dohle G, Fusco F, Kadioglou A, Kliesch S, Kopa Z, Krausz C, Pelliccione F, Pizzocaro A, Rassweiler J, Verze P, Vignozzi L, Weidner W, Maggi M, Sofikitis N. Sperm recovery and ICSI outcomes in men with non-obstructive azoospermia: a systematic review and meta-analysis. Hum Reprod Update. 2019. doi: 10.1093/humupd/dmz028.
8. Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C. Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. Andrology. 2019. doi: 10.1111/andr.12563.
9. Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group). Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). Eur J Endocrinol. 2018. doi: 10.1530/EJE-17-0065.
10. Moreno-Mendoza D, Casamonti E, Riera-Escamilla A, Pietroforte S, Corona G, Ruiz-Castañe E, Krausz C. Short anogenital distance is associated with testicular germ cell tumour development. Andrology. 2020. doi: 10.1111/andr.12863.
11. Moreno-Mendoza D, Casamonti E, Paoli D, Chianese C, Riera-Escamilla A, Giachini C, Fino MG, Cioppi F, Lotti F, Vinci S, Magini A, Ars E, Sanchez-Curbelo J, Ruiz-Castane E, Lenzi A, Lombardo F, Krausz C. gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study. Eur J Hum Genet. 2019. doi: 10.1038/s41431-019-0420-7.
12. Kumar K, Lewis S, Vinci S, Riera-Escamilla A, Fino MG, Tamburrino L, Muratori M, Larsen P, Krausz C. Evaluation of sperm DNA quality in men presenting with testicular cancer and lymphoma using alkaline and neutral Comet assays. Andrology. 2018. doi: 10.1111/andr.12429.
13. Casamonti E, Vinci S, Serra E, Fino MG, Brilli S, Lotti F, Maggi M, Coccia ME, Forti G, Krausz C. Short-term FSH treatment and sperm maturation: a prospective study in idiopathic infertile men. Andrology. 2017. doi: 10.1111/andr.12333.
14. Pallotti F, Senofonte G, Konstantinidou F, Di Chiano S, Faja F, Rizzo F, Cargnelutti F, Krausz C, Paoli D, Lenzi A, Stuppia L, Gatta V, Lombardo F. Epigenetic Effects of Gender-Affirming Hormone Treatment: A Pilot Study of the ESR2 Promoter's Methylation in AFAB People. Biomedicines. 2022. doi: 10.3390/biomedicines10020459.

 

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; from 2018 whole exome analysis.

 

Main scientific contributions

Discovery of:

• 7 Novel genes causing meiotic arrest (diagnostic and pre-TESE prognostic value) (doi: 10.1038/s41436-020-0907-1)
• 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 description

• of isolated USP9Y gene deletions compatible with spermatogenesis (doi: 10.1093/hmg/ddl198)
• on the correlation between Progesterone induced acrosome reaction and in vitro fertilization rate (doi: 10.1093/humrep/der289)
• on the correlation between ROS in seminal fluid and in vitro fertilization rate (doi: 10.1002/mrd.1080390304)

 

Collaborations

International

• 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/)
• Testis Cancer Consortium  (TECAC) (https://www.tecac.org/)

 

National

• Prof. Paoli, Università degli Studi di Roma “La Sapienza” and Prof. Gatta, Università degli Studi "G. d'Annunzio" Chieti (PRIN project)

 

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).

Prof Krausz is a member of the Streeming Committee of the International Male Infertility Genomics Consortium.