• PMID: 16372123
• Gene Name: USP9Y
• Condition: Azoospermic patients with Klinefelter's syndrome
• Association: Patients may harbor Y chromosome microdeletions
• Mutation: Y- chromosome microdeletions
• Population size: 27
• Population details: 14 azoospermic patients, 13 fertile males
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AZF a, b
• Other associated phenotypes: Azoospermia

Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome

Mitra A, Dada R, Kumar R, Gupta NP, Kucheria K, Gupta SK.

AIM: To study the occurrence of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome (KFS). METHODS: Blood and semen samples were collected from azoospermic patients with KFS (n = 14) and a control group of men of proven fertility (n = 13). Semen analysis was done according to World Health Organization (WHO) guidelines. Blood samples were processed for karyotyping, fluorescent in situ hybridization (FISH) and measurement of plasma follicle stimulating hormone (FSH) by radioimmunoassay. To determine Y chromosome microdeletions, polymerase chain reaction (PCR) of 16 sequence tagged sites (STS) and three genes (DFFRY, XKRY and RBM1Y) was performed on isolated genomic DNA. Testicular fine needle aspiration cytology (FNAC) was done in selected cases. RESULTS: Y chromosome microdeletions spanning the azoospermia factor (AZF)a and AZFb loci were found in four of the 14 azoospermic patients with KFS. Karyotype and FISH analysis revealed that, of the four cases showing Y chromosome microdeletion, three cases had a 47,XXY/46,XY chromosomal pattern and one case had a 46,XY/47,XXY/48,XXXY/48,XXYY chromosomal pattern. The testicular FNAC of one sample with Y chromosome microdeletion revealed Sertoli cell-only type of morphology. However, no Y chromosome microdeletions were observed in any of the 13 fertile men. All patients with KFS had elevated plasma FSH levels. CONCLUSION: Patients with KFS may harbor Y chromosome microdeletions and screening for these should be a part of their diagnostic work-up, particularly in those considering assisted reproductive techniques. FAU - Mitra, Anurag AU - Mitra A AD - Gamete Antigen Laboratory, National Institute of Immunology, Aruna Asaf Ali Marg, New Delhi 110 067, India. FAU - Dada, Rima AU - Dada R FAU - Kumar, Rajeev AU - Kumar R FAU - Gupta, Narmada Prasad AU - Gupta NP FAU - Kucheria, Kiran AU - Kucheria K