Analisis Sitogenetika Pada Pasien Dengan Amenore Primer

ODILIA YULIANI SISTRI; EVA DIAH SETIJOWATI; HERNI SUPRAPTI; RETNO DWI WULANDARI

doi:10.30649/htmj.v22i2.650

Penulis

ODILIA YULIANI SISTRI Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya
EVA DIAH SETIJOWATI Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya
HERNI SUPRAPTI Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya
RETNO DWI WULANDARI Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya

DOI:

https://doi.org/10.30649/htmj.v22i2.650

Kata Kunci:

Kata kunci : Amenore primer, analisis sitogenetika, kelainan kromosom

Abstrak

Amenore didefinisikan sebagai tidak adanya menstruasi pada perempuan usia reproduktif. Disebut amenore primer apabila seseorang belum menstruasi sampai usia 16 tahun dengan adanya ciri-ciri seksual sekunder yang normal atau sampaiusia 14 tahun tetapi tidak ada tanda tanda perkembangan seksual sekunder. Ada banyak faktor penyebab terjadinya amenore primer, seperti kelainan hipofisis/hipotalamus, disfungsi dan kelainan saluran keluar pada vagina dan rahim. Kelainan tersebut di atas disebabkan kelainan pada kelenjar endokrin, genetik (gen dan kromosom), psikologis, lingkungan dan kelainan struktur. Penelitian ini bertujuan untuk mengetahui analisis kromosom pada pasien dengan amenore primer di Laboratorium Genetika Medik Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya. Penelitian merupakan penelitian deskriptif observasional. Populasi dalam penelitian ini adalah seluruh rekam medis pasien amenore primer dan sampel dalam penelitian ini adalah rekam medis pasien dengan amenore primer di Laboratorium Genetika Medik Fakultas Kedokteran Universitas Wijaya Kusuma Surabaya tahun 2018-2023 dan memenuhi kriteria inklusi dan eksklusi. Adapun kriteria inklusi sebagai berikut: pasien dengan riwayat amenore primer dan kriteria eksklusi adalah amenore sekunder (POF) Premature Ovarian Failure. Dari 75 sampel pasien amenore primer didapatkan 39 pasien (52%) memiliki kariotip normal dan 36 pasien (48%) memiliki kariotip abnormal. Pada 36 pasien yang memiliki kariotip abnormal, dapat diklasifikasikan menjadi kelainan jumlah, kelainan struktur, dan pasien amenore primer dengan kariotip 46,XY DSD. Kelainan jumlah kromosom pada pasien, yakni 45,X (sindrom Turner) dan mosaik Turner. Kelainan struktur yakni delesi kromosom, isokromosom, dan translokasi

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