• PMID: 10402374
• Gene Name: DDX3Y
• Condition: Infertility
• Association: The study found three patients with microdeletions (2.2%). Subdivision of the study population revealed a deletion incidence of 4.7% in azoospermic/cryptozoospermic patients; an incidence of 7% in idiopathic patients and an incidence of 16% in idiopathic
• Mutation: CDY, XKRY, eIF-1AY, BPY2
• Population size: 134
• Population details: 134 (22 azoospermic, 42 cryptozoospermic, 53 oligozoospermic, 4 normozoospermic, 13 asthenozoopsermic)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: CDY, XKRY, eIF-1AY, BPY2
• Other associated phenotypes: azoospermic/cryptozoospermic, oligozoospermic

Screening for microdeletions of Y chromosome genes in patients undergoing intracytoplasmic sperm injection

Krausz C, Bussani-Mastellone C, Granchi S, McElreavey K, Scarselli G, Forti G.

The potential of assisted reproduction techniques to transmit genetic defects causing male infertility raises questions concerning the need for a systematic genetic screen and counselling. Deletions of the long arm of the Y chromosome are frequently associated with a failure of spermatogenesis. The search for Y specific sequences and for the gene families RNA binding motif (RBM) and deleted in azoospermia (DAZ) have been introduced in many laboratories. The incidence of Y microdeletions varies widely between studies, from 1-55%. These differences are mainly related to study design. The highest incidence of microdeletions has been reported in well selected idiopathic azoospermic patients. Since microdeletions have been reported also in non-idiopathic patients, it is important to define what is the deletion frequency in unselected patients. We report Y chromosome microdeletion screening in 134 unselected patients undergoing intracytoplasmic sperm injection (ICSI). In the first part of the study we tested six Y chromosome markers. We found three patients with microdeletions (2.2%). Subdivision of the study population revealed a deletion incidence of 4.7% in azoospermic/cryptozoospermic patients; an incidence of 7% in idiopathic patients and an incidence of 16% in idiopathic azoospermic/cryptozoospermic patients. The second part of the study consisted of a screen for the presence of the Y chromosome genes, DBY, CDY, XKRY, eIF-1A, DAZ and BPY2. No additional gene-specific deletions were found. Further data on gene specific screening are needed especially for selected idiopathic patients. FAU - Krausz, C AU - Krausz C AD - Andrology Unit, Department of Clinical Physiopathology, Department of Obstetric and Gynecology, University of Florence, Firenze, Italy. FAU - Bussani-Mastellone, C AU - Bussani-Mastellone C FAU - Granchi, S AU - Granchi S FAU - McElreavey, K AU - McElreavey K FAU - Scarselli, G AU - Scarselli G