1. VÔ KINH NGUYÊN PHÁT
Vô kinh nguyên phát được chẩn đoán khi chưa hề có kinh ở tuổi 14 và không có những đặc điểm sinh dục thứ phát hoặc ở tuổi 16 với sự phát triển của các đặc điểm sinh dục thứ phát.
Có nhiều nguyên nhân gây vô kinh nguyên phát nhưng hai nguyên nhân chính trong số đó là sự bất thường cấu trúc (thiểu sản hoặc vách ngăn âm đạo, màng trinh không thủng, thiểu sản ống muller) hoặc hormone (thiếu nhạy cảm androgen hoàn toàn, rối loạn chức năng tuyến sinh dục như hội chứng Turner hoặc suy yếu vùng hạ đồi-tuyến yên).
BẤT SẢN ỐNG MULLER:
- Vô kinh nguyên phát
- Có sự hiện diện mô vú nhưng không có tử cung
- Có lông mu và lông nách
KHÔNG NHẠY CẢM ANDROGEN
- Vô kinh nguyên phát
- Có vú nhưng không có tử cung
- Không có lông mu và lông nách
RỐI LOẠN PHÁT SINH TUYẾN SINH DỤC
- Vô kinh nguyên phát
- Không có mô vú nhưng có tử cung
- Tăng FSH
SUY HẠ ĐỒI TUYẾN YÊN
- Vô kinh nguyên phát
- Không có mô vú nhưng vẫn có tử cung
- Giảm FSH
MÀNG TRINH KHÔNG THỦNG
- Vô kinh nguyên phát
- Có mô vú và có tử cung
- Chiều cao và cân nặng bình thường
HỘI CHỨNG KALLMAN
- Vô kinh nguyên phát
- Không có sự phát triển tuyến vú nhưng có tử cung
- Mất khứu giác
CÓ VÚ, CÓ TỬ CUNG: bao gồm màng trinh không thủng, âm đạo có vách ngăn, chán ăn tâm thần, tập thể dục quá mức và có thai trước khi có kinh lần đầu.
CÓ VÚ, KHÔNG CÓ TỬ CUNG: bao gồm bất sản ống Muller (hội chứng Rokitansky- Kuster- Hauser) và không nhạy cảm androgen hoàn toàn (nữ hóa tinh hoàn). Thực hiện xét nghiệm testosterone và nhiễm sắc thể đồ có thể giúp chẩn đoán phân biệt.
Bất sản ống Muller: Nữ bình thường kiểu gen 46XX với sự vắng mặt của các cấu trúc phát sinh từ ống Muller không rõ nguyên nhân: ống dẫn trứng, tử cung, cổ tử cung, phần trên âm đạo. Phần dưới âm đạo xuất phát từ xoang niệu dục vẫn hiện diện. Bệnh nhân vẫn phát triển các đặc điểm sinh dục thứ phát vì chức năng buồng trứng vẫn bình thường. Có lông mu và lông nách, nồng độ testosteron trong giới hạn bình thường đối với nữ. Có thể thực hiện phẫu thuật kéo dài âm đạo để thỏa mãn tình dục.
Không nhạy cảm androgen: Kiểu hình nam 46XY với sự thiếu chức năng receptor androgen hoàn toàn, cơ thể không đáp ứng đối với nồng độ cao của androgen. Không có sự kích thích của androgen, ống Woffian bị teo lại. Với sự hiện diện của các yếu tố ức chế ống Muller tại tinh hoàn ảnh hưởng đến các cơ quan phát sinh từ đây.
Không nhận diện cơ thể bởi dihydrotestosterone, cơ quan sinh dục ngoài biệt hóa theo chiều hướng nữ. Bệnh nhân thực hiện chức năng sinh tâm lý như nữ giới và lớn lên như những cô gái. Đến tuổi dậy thì không có kinh sẽ được chẩn đoán. Đặc điểm sinh dục thứ phát ở nữ vẫn có vì tinh hoàn tiết ra estrogen và không chịu sự cạnh tranh của androgen. Không có lông mu và lông nách. Nồng độ testosteron trong giới hạn bình thường của nam giới. Có thể thực hiện cắt bỏ tinh hoàn ở tuổi 20 vì nguy cơ ung thư tinh hoàn có liên quan với nhiệt độ cao khi tinh hoàn nằm trong ổ bụng.
KHÔNG CÓ VÚ NHƯNG CÓ TỬ CUNG: bao gồm loạn sản sinh dục (hội chứng turner) và suy hạ đồi tuyến yên. Nồng độ FSH và nhiễm sắc thể đồ giúp chẩn đoán. Loạn sản sinh dục ( hội chứng Turner ) được gây ra bởi thiếu một nhiễm sắc thể X cần thiết cho sự hiện diện của nang trứng bình thường. Buồng trứng chỉ phát triển dạng vết. FSH gia tăng do thiếu điều hòa ngược của estrogen đối với hạ đồi và tuyến yên. Không có đặc điểm sinh dục thứ phát. Liệu pháp estrogen và progesterone cho sự phát triển các đặc điểm sinh dục thứ phát. Suy hạ đồi tuyến yên: bệnh nhân không có các đặc điểm sinh dục thứ phát nhưng vẫn có tử cung trên siêu âm, một khả năng khác là các nguyên nhân dưới đồi của vô kinh như stress, lo âu, chán ăn tâm thần, tập luyện quá mức. FSH thấp. Điều trị bằng liệu pháp thay thế estrogen-progesterone.
2. VÔ KINH THỨ PHÁT
Vô kinh thứ phát là sự vắng mặt của chảy máu kinh trong khi trước kia đã từng xảy ra, được chẩn đoán với sự vắng mặt của máu kinh suốt 3 tháng đối với chu kỳ kinh đều và 6 tháng đối với chu kỳ kinh không đều.
Có nhiều nguyên nhân của vô kinh thứ phát và có thể được phân loại tùy thuộc sự thay đổi của nồng độ FSH và LH bao gồm suy sinh dục ( rối loạn chức năng hạ đồi tuyến yên ), cường tuyến sinh dục (suy nang trứng ) và một số tình trạng bệnh lý hay sinh lý ( thai kỳ, không rụng trứng, bệnh lý của tử cung hoặc đường ra ) .
CHẢY MÁU KINH DO KHÔNG RỤNG TRỨNG SINH LÝ
- Chảy máu âm đạo đột ngột, không theo chu kỳ
- Thường xảy ra tuổi vị thành viên 13 tuổi
- Chiều cao và cân nặng bình thường
CHẢY MÁU KINH DO KHÔNG RỤNG TRỨNG MẠN TÍNH
- Chảy máu âm đạo đột ngột, không theo chu kỳ
- Phụ nữ tuổi 33
- Béo phì, tăng huyết áp
XỬ TRÍ
- Test thai beta-hCG
- Test TSH nếu beta-hCG âm tính. Sự gia tăng TRH trong suy giáp nguyên phát có thể dẫn đến tăng prolactin. Điều trị suy giáp có thể giúp khôi phục kinh nguyệt.
- Test prolactin: có thể do thuốc chống loạn thần hay chống trầm cảm với tác dụng phụ kháng dopamine. U tuyến yên cũng gây tăng prolactine máu, loại trừ bằng CT hay MRI não. Nếu u <1cm, điều trị bằng bromocriptine hoặc kháng dopamine, nếu u >1cm, điều trị phẫu thuật. Nếu nguyên nhân tăng prolactine không được tìm thấy, điều trị bằng bromocriptine.
- Test thử thách progesterone (PCT): nếu beta-hCG âm tính, TSH và prolactin bình thường, tiêm bắp 1 liều progesterone hoặc uống 7 ngày medroxyprogesterone acetate (MPA). Test dương tính nếu xảy ra chảy máu bất kỳ mức độ nào và được chẩn đoán là không rụng trứng. MPA theo chu kỳ là cần thiết để ngăn ngừa tăng sinh nội mạc tử cung. Gây rụng trứng bằng clomiphene nếu bệnh nhân mong muốn có thai. Test âm tính nếu không xảy ra hiện tượng xuất huyết nguyên nhân do thiếu hụt estrogen tác động trên nội mạc tử cung hoặc bất thường đường ra.
- Test thử thách estrogen-progesterone (EPCT). Nếu PCT âm tính, thêm 21 ngày bổ sung estrogen đường uống sau 7 ngày MPA. EPCT dương tính khi xảy ra chảy máu bất cứ mức độ nào. Test FSH giúp xác định nguyên nhân. FSH tăng gợi ý suy buồng trứng, nếu xáy ra <25 tuổi nguyên nhân có thể do thể khảm nhiễm sắc thể Y có liên quan nguyên nhân ác tính và một nhiễm sắc thể đồ cần được làm. Hội chứng Savage hay hội chứng kháng buồng trứng là tình trạng các nang trứng được nhìn thấy trên siêu âm mặc cho chúng không đáp ứng với hormon sinh dục. Nồng độ FSH thấp gợi ý suy hạ đồi-tuyến yên, nên nghiên cứu hình ảnh hệ thần kinh trung ương loại trừ u não. EPCT dương tính cần liệu pháp thay thế estrogen nhằm ngăn chặn loãng xương và tử vong do thiếu hụt estrogen. Pregestin chu kỳ cũng cần được sử dụng để ngăn chặn tăng sinh nội mạc tử cung. EPCT âm tính khi không hiện diện chảy máu kinh gợi ý sự tắc nghẽn đường ra hay dính lòng tử cung ( hội chứng Asherman do nạo lòng tử cung quá nhiều hoặc nhiễm trùng gây dính). Chụp cản quang tử cung ống dẫn trứng (HSG) có thể phát hiện vị trí tổn thương. Dính lòng tử cung được điều trị bằng nội soi tách dình lòng tử cung sau khi kích thích nội mạc bởi estrogen và đặt stent bơm hơi trong khoang tử cung để chống dính các thành tử cung lại với nhau.
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