Sindroma feminisasi testikular pada usia prepubertas - Laporan Kasus

• Main Author: Perpustakaan UGM, i-lib
• Format: Article NonPeerReviewed
• Published: [Yogyakarta] : Universitas Gadjah Mada 1999
• Subjects: Jurnal i-lib UGM
• Online Access: https://repository.ugm.ac.id/21040/; http://i-lib.ugm.ac.id/jurnal/download.php?dataId=3898
• Institution: Universitas Gadjah Mada

ABSTRACT Background: It is important to diagnose testicular feminization due to other abnormalities with similar clinical findings which needs different treatments. Aim: To diagnose early testicular feminization syndrome by clinical findings, hormone levels, and chromosome analysis. Design: Review of reported cases. Setting: A university hospital. Patient: Phenotypic girl aged 9 years with abnormal external genitalia revealed large clitoris-like structure, normal labia majora, a blind vaginal pouch and no palpable uterus and adnexa. Results: The uterus and adnexa of the patient at ultrasonography and laparoscopy examination were proved to be absent. The serum testosterone concentration was not substantially increased and the karyotype was 46XY. Further examination found left testis in inguinal canal and the right one in labia majora. From biopsy it was found that both seminiferous tubules were in development phase mostly with spermatogonia, and several part in spermatocyte phase. The diagnosis was testicular feminization (androgen insensitivity syndrome). Conclusions: Cases of primary amenorrhea, incomplete external genitalia, and vagina agenesis/hypogenesis, are important to be early diagnosed by investigating the sex chromosome, gonads, sex hormone, genitalia, and sex psychology. Because of the increased risk of malignancy, an orchidectomy has to be performed. Key words : testicular feminization - normal male 46XY - female external genitalia - orchidectomy Latar belakang: Diagnosis feminisasi testikular perlu ditegakkan karena banyak kelainan lain yang memberikan gejala klinis yang sama dengan penanganan yang berbeda. Tujuan penelitian: Mendiagnosis secara dini sindrom feminisasi testikular dengan pemeriksaan klinis, kadar hormon, dan analisa kromosom. Disain: Laporan kasus. Setting: Rumah Sakit. Pasien: Anak perempuan usia 9 tahun, dengan kelainan genitalia eksterna, ditemukan bangunan yang menyerupai struktur klitoris, labia mayora normal serta lubang vagina yang buntu. Uterus dan adneksa tidak teraba. Hasil penelitian: Pada pemeriksaan ultrasonografi dan laparoskopi, dipastikan uterus dan adneksa tidak ada. Pada pemeriksaan hormon, testosteron didapatkan tidak meningkat secara substansial, dan karyotip pemeriksaan kromosom menunjukkan 46XY. Pada pemeriksaan Iebih lanjut, ditemukan testis kin berada di kanalis inguinalis, dan testis kanan di dalam labia majora. Dari biopsi, kedua tubulus seminiferus sebagian berada di fase spermatogonia, sisanya pada fase spermatosit. Diagnosis yang ditegakkan adalah testikuler feminisasi (sindroma insensitifitas terhadap androgen). Simpulan: Penegakan diagnosis secara dini sangat penting dilakukan terhadap kasus dengan amenore primer, tidak lengkapnya genitalia eksterna, dan agenesis/hipogenesis vagina, dengan pemeriksaan: kromosomal seks, gonad, hormon seks, genitalia, serta psikologi seks. Orkhidektomi perlu dilakukan mengingat risiko ke arah malignansi.