Distribusi Pasien Ambiguitas Seksual dan Hipospadia di Laboratorium Sitogenetika Semarang
Tahun 2004 Volume 39 Nomor 4
Oleh : Sultana MH. Faradz’, Noor Maziyati Nida”
Latar Belakang : Jumlah anak yang lahir dalam keadaan ambigus genitalia dan hipospadia belum diketahuisecarapasti. Rendahnyaperhatian danpemahaman terhadap ambiguitas seksual dan hipospadia merupakanpenyebab keterlambatan penanganan kasus tersebut. Laboratorium sitogenetika di Semarang sering menerima permohonan analisis kromosom untuk kasus ambiguitas seksuaL Penyebab ambiguitas seksual dan hipospadia umumnya belum 4iketahui, selain itu kariotipnya bervarias: Tujuanpenelitian ini adalah mengetahui disiribusi usia,jenis kelamin dan kemungkinan diagnosis terhadappasien ambiguitas seksual dan hipospadia diSemarang.
Metoda: Penelitian ini bers deskript belah lintang . Analisis dilakukan terhadap data catatan medis dan hasil pemeriksaan kromos om pasien ambiguitas seksual dan 2 laboratorium Sitogenetika diSemarangpada bulan Oktober 1991 s/dApril2
Hasil: Hasil penelitian menunjukkan 134 kasus yang terdiri dan 92 kasus ambiguitas seksual dan 42 kasus hipospadia. Jumlah pasien cenderung mengalami kenaikan tiap tahunnya dengan jumlah tertinggi pada tahun 2002 sebanyak 38 kasus. Umur rata-rata pasien adalah 8 tahun, 47,76% pasien berumur kurang dan 4 lahun sedangkan sisanya berusia anlara 5-37 tahun. Sebanyak 50(56%) pasien ambiguitas seksual memiliki kariotip laki-laki (46,XY) (I4pasien memiliki gender yang berbeda dengan kariotipnya), 27pasien memiliki kariotipperempuan (46. Xk7 dengan 3 pasien yang memiiki gender yang berbeda dengan kariotipnya, l3pasien memiliki kariotip mosaic dan 2pasiengagal dalam preparasi kromososm .Berdasarkan fisik, analisis sitogenetika, analisis sitogenetika, DNA dan hormonal , 43 dari 92 kasus telah didapat didiagnosis jenis kelainannya yaitu 18 pasien dengan Congenital Adrenal Hyperplasa (CAH) , 7 pasien Partial Androgen Insensivity syndrome(PAIS) dan 18 pasien Gonadal Dysgeneses
Simpulan : Analisis sitogenetik penting dalam penentuan jenis kelamin meskipun pemeriksan menyeluruh konseling genetika sebaiknya terhadap pasien ambiguitas seksual dan hipospadia
Background: Children born with ambiguous genitalia and hypospadia are not definitely diagnosed and immediately managed due to the lack of knowledge and concern on them by inedi cal personnel as well as parents. Recently, chromosome analysis on those cases was frequently requested to Cytogenetic Laboratories in Semarang. The causes of ambiguous genitalia and hypospadia are mostly unknown, besides their karyotypes are varied. The aim of this research is to evaluate the distribution of age. sex andpossible diagnosis ofambiguous genitalia and hypospadia patients.
Method : This was a descriptive cross sectional study following medical and chromosome report from cytogenezic laboratories in Semarang during October 1991 to April2004.
Result: There were 134 recorded cases consisting of 92 intersex and 42 hypospadia samples. The number of ambiguous genitalia and hypospadia cases examined in Cytogenetic Laboratories in Semarang tend to increase year to year and reach the peak in 2002 (38 cases). Their average were 8 years with 47.76% of them are under 4 years and 52.24% are between 5- 37 years. There were 50 (56%) ambiguous genitalia patients with male karyotype (46,XY), 14 of them demonstrated d genotype from their known gender There were 27(29%) ambiguous genitalia patients with female karyotype (46, XX) and 3 of them demonstrated d genotype from their known gender There were 13 (15%) ambiguous genitalia patients with mosaic karyotype and 2 patients had failure in chromosome preparation. According to the physical, cytogenetic, hormonal and DNA tests, there were 18 patients diagnosed as Congenital Adrenal Hyperplasia (CAH)a, 7 patients as PartialAndrogen Insens itivity Syndrome (PAlS) and 18 patients as Gonadal Dysgenesis.
Conclusion: Cytogenetic analysis is very helpful in sex assignment. although comprehensive examination including molecular analysis and genetic counselingshouldbe undertaken to ambiguous genitalia and hypospadia patients.