• PMID: 15513974
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results suggest that gr/gr deletions are a risk factor for spermatogenic failure in Spanish population
• PMID: 15513974
• Gene Name: DAZ1
• Condition: Spermatogenic failure, Azoospermia, Oligospermia, Male infertility
• Association: gr/gr deletions were detected in 11 of 217 oligospermic and in one of 66 azoospermic consecutive ICSI candidates, but in none of 232 controls. The fertility rate was not different in the four patients of the gr/gr deleted group treated by ICSI as compared
• Mutation: gr/gr deletion
• Population size: 515
• Population details: 515 (217 oligospermic, 66 azoospermic, 232 controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Spermatogenic failure, Azoospermia, Oligospermia, Male infertility

High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates

de Llanos M, Ballescà JL, Gázquez C, Margarit E, Oliva R.

BACKGROUND: The Y chromosome gr/gr microdeletion eliminates two copies of the DAZ gene and several additional transcriptional units and has been associated as a risk factor for infertility. Our objective was to study the presence of the gr/gr deletion in ICSI candidates in our population and to determine whether the laboratory, clinical and ICSI outcome were different in the gr/gr deleted patients. METHODS: Two hundred and eighty-three ICSI candidates were studied. Semen analysis, serum FSH, LH, testosterone, inhibin B, karyotype and detection of sequence tagged sites in the Y chromosome were performed. RESULTS: gr/gr deletions were detected in 11 (5.07%) of 217 oligospermic and in one (1.52%) of 66 azoospermic consecutive ICSI candidates, but in none of 232 controls (P=0.002). The fertility rate was not different in the four patients of the gr/gr deleted group treated by ICSI (64.38%; 47/73) as compared to average results at our center (65.49%; 2393/3654). CONCLUSIONS: gr/gr deletions are a risk factor for spermatogenic failure at our population, but the prognosis of the four patients of the gr/gr deleted group treated by ICSI is not different from that of other ICSI patients. FAU - de Llanos, Maite AU - de Llanos M AD - Grup de Genètica Humana, Departament de Ciències Fisiològiques I, Faculty of Medicine, University of Barcelona, Spain. FAU - Ballescà, José Luís AU - Ballescà JL FAU - Gázquez, Cristina AU - Gázquez C FAU - Margarit, Ester AU - Margarit E