講演情報
[P27-8]男性不妊を主訴に45,X,?22p[25]/46,X,+mar[5]が判明した一例
○若井 未央1, 玉置 優子1,2,3, 林 裕子1,2,3, 梅村 なほみ1,2, 渋川 茉莉1, 大川 瑞穂1, 主原 翠1, 片桐 由起子1,2,3 (1.東邦大学医療センター大森病院 臨床遺伝診療部, 2.東邦大学医療センター大森病院 産婦人科, 3.東邦大学医療センター大森病院 リプロダクションセンター)
[Background] Genetic and chromosomal abnormalities among male infertility account for approximately 15-30% and 5%, respectively. The most common type of Y chromosome translocation including the SRY region is Y-acrocentric translocation associated with infertility depending on the breakpoints. When discussing ART, it is also important to consider AZF, azoospermia factor region that is located on the long arm of the Y chromosome, which is involved in the growth and development of sperm. We experienced a case of azoospermic male with a complex chromosomal abnormality along with AZF deletions. [Case] A 34-year-old male were referred to our reproduction center to investigate non-obstructive azoospermia. G-banding and AZF test revealed the mosaic karyotype, 45,X,?22p[25]/46,X,＋mar[5], and Y chromosome microdeletions (AZF b1/b4). FISH analysis for SRY was performed to determine the origins of the derivative chromosome 22 and supernumerary marker chromosome (SMC), which revealed the presence of SRY gene on chromosome 22 (SRY＋, DYZ1-) and the absence of SRY on the SMC (SRY-, DYZ1＋). Further tests nor the infertility treatment were undesired. [Conclusion] Although both additional chromosomes were suspected to share the same origin containing SRY and partial AZF, the FISH analysis indicated these are not derived from the same regions. Since the AZF deletion includes AZFb region, sperm retrieval was unlikely to be successful even with TESE. Thus, considering the genetic risk for the offspring was unnecessary. However, such cases of mosaic karyotype need to be carefully examined.