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Curr Med Chem 6(23): 623-33. 1 PHỤ LỤC 01 DANH SÁCH BỆNH NHÂN NGHIÊN CỨU STT MSBV MS Lab Họ và tên Năm sinh Giới tính 1 040-75108 CYP11B1-001 Trần Thị Minh N. 2002 Nữ 2 CYP11B1-001F Trần Công T. 1973 Nam 3 CYP11B1-001M Phùng Thị N. 1977 Nữ 4 01-50826 CYP11B1-002 Khuất Thế A. 1993 Nam 5 CYP11B1-002F Khuất Văn V. 1969 Nam 6 CYP11B1-002M Đỗ Thị P. 1969 Nữ 7 CYP11B1-002YB Khuất Văn N. 1996 Nam 8 120308545 CYP11B1-003 Lý Hải H. 2010 Nữ 9 125ST- 181760 CYP11B1-004 Lê Văn T. 1996 Nam 10 090-105638 CYP11B1-005 Phạm Ngọc A. 1995 Nữ 11 040-88696 CYP11B1-006 Trần Quang H. 1998 Nam 12 CYP11B1-006F Trần Trọng H. 1972 Nam 13 CYP11B1-006M Trần Thị L. 1975 Nữ 14 CYP11B1-006OB Trần Việt H. 1995 Nam 15 130102666 CYP11B1-007 Trịnh Hữu T. 2011 Nam 16 12205993 CYP11B1-008 Vũ Quỳnh P. 2012 Nữ 17 CYP11B1-008F Vũ Anh T. 1983 Nam 18 CYP11B1-008M Nguyễn Thị Hồng S. 1984 Nữ 19 110283397 CYP11B1-009 Trần Hải Đ. 2006 Nam 20 CYP11B1-009F Trần Trọng Q. 1968 Nam 21 CYP11B1-009M Đỗ Thị N. 1968 Nữ 22 83ST-156324 CYP11B1-010 Nguyễn Thị B. 1995 Nữ 23 11345550 CYP11B1-011 Nguyễn Kim Hoàng N. 1991 Nam 24 CYP11B1-011M Lê Thị H. 1961 Nữ 25 160462372 CYP11B1-012 Nguyễn Thiên T. 2016 Nam 26 CYP11B1-012F Nguyễn Thế D. 1991 Nam 2 27 CYP11B1-012M Vũ Thị Kim T. 1995 Nữ 28 160493319 CYP11B1-013 Nguyễn Việt H. 2014 Nam 29 CYP11B1-013F Nguyễn Thế H. 1979 Nam 30 CYP11B1-013M Bùi Thanh L. 1983 Nữ 31 110612488 CYP11B1-014 Đàm Hưng T. 2011 Nam 32 159871321 CYP11B1-015 Nguyễn Tiến Đ. 2012 Nam Chú thích: F: Bố; M: Mẹ; OB: Anh trai; YB: Em trai Hà Nội, ngày tháng năm 2018 Cán bộ hướng dẫn Xác nhận của bệnh viện PGS. TS. Nguyễn Huy Hoàng PGS.TS. Nông Văn Hải PGS.TS. Trần Minh Điển 3 PHỤ LỤC 2 MẪU BỆNH ÁN NGHIÊN CỨU 1. THÔNG TIN BỆNH NHÂN Mã số bệnh án: Nội trú...Ngoại trú Họ và tên bệnh nhân:. Ngày sinh..Giới.... Địa chỉ:.. Điện thoại liên hệ: Tuổi chẩn đoán/Ngày vào viện:. Mã số lab: 2. KHÁM LÂM SÀNG Tiền sử bệnh nhân: Cân nặng lúc mới sinh: Bộ phận sinh dục ngoài lúc sinh Nôn sau sinh: Khám toàn thân: Tăng trưởng nhanh: Mức độ mất nước: Xạm da: Giọng ồm: Trứng cá: Khám bộ phận sinh dục ngoài: Lông mu: Mức độ nam hoá trẻ gái: Khám dương vật trẻ trai: 3. XÉT NGHIỆM CẬN LÂM SÀNG Nhiễm sắc thể: 4 Phân tích gene CYP21A2: X quang tuổi xương: Chẩn đoán hình ảnh tuyến thượng thận: Chẩn đoán hình ảnh tiểu khung: Xét nghiệm Điện giải đồ khi nhập viện: Na (mmol/l) K (mmol/l) Cl (mmol/l) Xét nghiệm ACTH, LH, FSH, Steroid: Xét nghiệm Tuổi xét nghiệm Điều kiện cơ bản Sau kích thích ACTH ACTH Cortisol 17-OHP Testosterone Progesterone Androstenedione 4. PHẢ HỆ VÀ TIỀN SỬ GIA ĐÌNH Tiền sử gia đình: Bố mẹ có quan hệ huyết thống không? Các anh chị em ruột có biểu hiện sau không: Mơ hồ giới tính: Xạm da: Dậy thì sớm: Nôn, không tăng cân sau đẻ: 5 Sơ đồ phả hệ: 5. KẾT QUẢ PHÂN TÍCH ĐỘT BIẾN GENE CYP11B1 Allele 1 Allele 2 Ghi chú Bệnh nhân Bố Mẹ 6 PHỤ LỤC 3 KẾT QUẢ ĐO NỒNG ĐỘ VÀ ĐỘ TINH SẠCH CÁC MẪU DNA TÁCH TỪ MÁU NGOẠI VI CỦA CÁC BỆNH NHÂN Mã số BN Họ và tên BN Nồng độ DNA (ng/μl) Độ tinh sạch (A260/280) CYP11-001 Trần Thị Minh N. 35 1,8 CYP11-002 Khuất Thế A. 42 1,9 CYP11-003 Lý Hải H. 54 2,0 CYP11-004 Lê Văn T. 36 1,8 CYP11-005 Phạm Ngọc A. 72 1,9 CYP11-006 Trần Quang H. 43 1,8 CYP11-007 Trịnh Hữu T. 61 1,7 CYP11-008 Vũ Quỳnh P. 25 1,9 CYP11-009 Trần Hải Đ. 39 1,8 CYP11-010 Nguyễn Thị B. 47 2,1 CYP11-011 Nguyễn Kim Hoàng N. 56 2,0 CYP11-012 Nguyễn Thiên T. 46 1,8 CYP11-013 Nguyễn Việt H. 35 1,9 CYP11-014 Đàm Hưng T. 25 1,8 CYP11-015 Nguyễn Tiến Đ. 45 1,9 7 PHỤ LỤC 4 KIỂU GEN VÀ KIỂU HÌNH BỆNH NHÂN NGHIÊN CỨU BN Họ và tên BN Kiểu gen Kiểu hình CYP11-001 Trần Thị Minh N. Nor/p.R43Q CĐ-NHĐT CYP11-002 Khuất Thế A. p.R43Q/p.R43Q CĐ-NHĐT CYP11-003 Lý Hải H. Nor/p.R43Q KCĐ CYP11-004 Lê Văn T. p.Y395X/p.Y395X CĐ-NHĐT CYP11-005 Phạm Ngọc A. Nor/p.R43Q CĐ-NHĐT CYP11-006 Trần Quang H. IVS6+5G>T/IVS6+5G>T CĐ-NHĐT CYP11-007 Trịnh Hữu T. Nor/p.R43Q CĐ-NHĐT CYP11-008 Vũ Quỳnh P. IVS6+5G>T/IVS6+5G>T CĐ-NHĐT CYP11-009 Trần Hải Đ. Nor/p.R43Q CĐ-NHĐT CYP11-010 Nguyễn Thị B. Nor/p.R51K CĐ-NHĐT CYP11-011 Nguyễn Kim Hoàng N. p.R43Q/p.E147D-p.N152K CĐ-NHĐT CYP11-012 Nguyễn Thiên T. Nor/p.R43Q CĐ-MM CYP11-013 Nguyễn Việt H. Nor/p.R43Q CĐ-NHĐT CYP11-014 Đàm Hưng T. p.R43Q/p.R43Q CĐ-MM CYP11-015 Nguyễn Tiến Đ. Nor/p.R43Q CĐ-NHĐT Ghi chú: Nor: alen không phát hiện đột biến; CĐ-NHĐT: Cổ điển-Nam hóa đơn thuần; CĐ-MM: Cổ điển-Mất muối; KCĐ: Không Cổ điển Hà Nội, ngày tháng năm 2018 Cán bộ hướng dẫn Xác nhận của bệnh viện PGS. TS. Nguyễn Huy Hoàng PGS.TS. Nông Văn Hải PGS.TS. Trần Minh Điển