The course will focus on endocrine and genetic aspects of male infertility. In particular, it will deal with: i) the analysis of Y chromosome microdeletions (AZF deletions and the gr / gr deletions); ii) the mutational screening of candidate genes of congenital hypogonadotrophic hypogonadism. Student will be introduced to basic Bioinformatics and molecular genetic techniques (through practical course) and to the male gamete cryopreservation techniques.
1. Tournaye H, Krausz C, Oates RD. Novel concepts in the aetiology of male
reproductive impairment. Lancet Diabetes Endocrinol. 2016 Jul 6. pii:
S2213-8587(16)30040-7.
2: Tournaye H, Krausz C, Oates RD. Concepts in diagnosis and therapy for male
reproductive impairment. Lancet Diabetes Endocrinol. 2016 Jul 6. pii:
S2213-8587(16)30043-2. doi: 10.1016/S2213-8587(16)30043-2.
3: Krausz C, Escamilla AR, Chianese C. Genetics of male infertility: from
research to clinic. Reproduction. 2015 Nov;150(5):R159-74. doi:
10.1530/REP-15-0261. Review.
4: Krausz C. Male infertility: pathogenesis and clinical diagnosis. Best Pract
Res Clin Endocrinol Metab. 2011 Apr;25(2):271-85. doi:
10.1016/j.beem.2010.08.006. Review.
5. EAA/EMQN Guidelines (disponibile online)
Krausz et al (2014) EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013; Andrology, 2014, 2, 5–19;
Teaching Methods
frontal lessons and practical part in groups
Further information
contact directly Prof Krausz by email: csilla.krausz@unifi.it
Type of Assessment
oral exam
Course program
Frontal classes:
Etiopathogenesis of male infertility and genetics of male infertility
Hormonal regulation of spermatogenesis, hormone dosage (technical aspects and clinical meaning)
Y chromoosme-linked microdeletion analysis
Practical part:
the basis of bioinformatics and of molecular genetics
-Techniques of sperm cryoconservation