Tần suất và đặc điểm mất đoạn AZF trong hội chứng Klinefelter

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Tác giả: Đình Hiếu Lê, Phi Hùng Lê, Thái Lộc Lý, Nhật Thăng Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y Dược học Phạm Ngọc Thạch, 2023

Mô tả vật lý: tr.136

Bộ sưu tập: Metadata

ID: 339398

Thêm vào giỏ Liên kết toàn văn

- Đặt vấn đề: Hội chứng Klinefelter là một nhóm triệu chứng do có ≥ 2 nhiễm sắc thể (NST) X ở nam giới. Nguyên nhân do không phân ly các NST giới tính từ bố hoặc mẹ trong quá trình tạo tinh trùng và trứng. Mất đoạn NST Y có thể làm tăng nguy cơ không phân ly. Chúng tôi khảo sát tỷ lệ và đặc điểm mất đoạn AZF (azoospermic factor) ở BN Klinefelter và so sánh với BN vô tinh không bế tắc 46,XY để đánh giá liên hệ giữa mất đoạn AZF và hội chứng Klinefelter.- Phương pháp nghiên cứu: 396 BN thiểu tinh và vô tinh có kết quả NST đồ và AZF từ 5/2018 đến 5/2021, được hồi cứu hồ sơ, ghi nhận kết quả thăm khám lâm sàng, tinh dịch đồ và nội tiết tố sinh dục nam. Trong đó, có 24 BN Klinefelter và 131 BN vô tinh không bế tắc 46,XY.- Kết quả: Tỷ lệ mất đoạn AZF là 25% ở BN Klinefelter và 34,4% ở BN vô tinh không bế tắc 46,XY (χ2, p=0,370). 6 BN Klinefelter bị mất đoạn AZFc (gồm 5 gr/gr và 1 b2/b4) so với 4 AZFbc và 41 AZFc (gồm 8 b2/b4, 29 gr/gr và 4 b2/b3) ở BN vô tinh không bế tắc 46,XY (Fisher’s Exact, p=1). Tỷ lệ suy sinh dục nam là 70,8% ở BN Klinefelter và 32,8% ở BN vô tinh không bế tắc 46,XY (χ2, p <
0,0001). BN Klinefelter có nồng độ FSH và LH máu cao hơn BN vô tinh không bế tắc 46,XY (T, p <
0,0001). Không khác biệt về tuổi và thời gian từ khi lập gia đình đến khi chẩn đoán nguyên nhân hiếm muộn giữa 2 nhóm nghiên cứu. 2/4 BN Klinefelter được làm mTESE và tìm thấy tinh trùng và tinh tử kéo đuôi có thể dùng làm ROSI.- Kết luận: Mất đoạn AZF tương đối phổ biến ở BN Klinefelter, tỷ lệ và hình thức mất đoạn AZF không khác biệt với BN vô tinh không bế tắc 46,XY. Do đó, các mất đoạn NST Y này có thể không phải là nguyên nhân của các NST X thừa số và vì thế, không làm tăng nguy cơ hội chứng Klinefelter.Abstract- Introduction: Klinefelter’s syndrome is a group of symptoms due to the presence of 2 or more X - chromosomes in male. Numerical X - chromosome aberrations arise by non-disjunction of parental or maternal sex-chromosomes either during meiotic divisions occurring in germ - cell development or in early embryonic mitotic cell divisions. Y - chromosome deletions is considered to increase the risk of non-disjunction. We investigated the frequencies and characteristics of AZF (azoospermic factor) microdeletions in patients with Klinefelter’s syndrome and compared to nonobstructive azoospermic (NOA) patients with normal karyotype (46,XY) in order to assess the association between AZF microdeletions and Klinefelter’s syndrome.- Patients and Methods: 396 oligo - and oligo - and azoospermic patients who had karyotype and AZF - microdeletion analyses from May 2018 to May 2021 were retrospectively studied. Clinical examination, semen analysis and male sex - hormones were evaluated. There were 24 patients with Klinefelter’s syndrome and 131 NOA patients with 46,XY.- Results: The rate of AZF microdeletions was of 25% in patients with Klinefelter’s syndrome and of 34,4% in NOA patients with 46,XY (χ2 test, p = 0,370). 6 patients with Klinefelter’s syndrome suffered from AZFc microdeletions (including 6 gr/gr and 1 b2/b4) in comparison with 4 AZFbc and 41 AZFc microdeletions (including 8 b2/b4, 29 gr/gr and 4 b2/b3) in NOA patients with 46,XY (Fisher’s Exact test, p = 1). The rate of hypogonadism was of 70,8% in patients with Klinefelter’s syndrome and of 32,8% in NOA patients with 46,XY (χ2 test, p <
0,0001). Patients with Klinefelter’s syndrome had higher serum FSH and LH levels than NOA patients with 46,XY (T test, p <
0,0001). No significant difference was observed in terms of patient age and duration between date of marriage and date of causal diagnosis of infertility between the 2 study groups. 2/4 patients with Klinefelter’s syndrome underwent mTESE procedures and found mature sperm and spermatids that can be used in ROSI procedures.- Conclusions: AZF microdeletions are quite common in patients with Klinefelter’s syndrome, in which the frequencies and types of AZF microdeletions are not significantly different from those in NOA patients with 46,XY. Therefore, these Y - chromosome deletions might not be the cause of supernumerary X - chromosomes, and as a result, could not enhance the risk of Klinefelter’s syndrome. DOI: 10.59715/pntjmp.1.4.15

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