HUBUNGAN KADAR TSH dan FT4 TERHADAP PERAWAKAN DISMORFIK PADA ANAK USIA KURANG DARI TIGA TAHUN DI DESA KARANGPATIHAN, KECAMATAN BALONG, KABUPATEN PONOROGO Oleh: Adindha Sekar Ayu 201110330311103 FAKULTAS KEDOKTERAN UNIVERSITAS MUHAMMADIYAH MALANG 2014 DAFTAR ISI Halaman DAFTAR ISI .................................................................................................... i DAFTAR TABEL ............................................................................................ iv DAFTAR GAMBAR ....................................................................................... v DAFTAR LAMPIRAN .................................................................................... vi BAB I PENDAHULUAN ................................................................................ 1 1.1 Latar Belakang ................................................................................. 1 1.2 Rumusan Masalah............................................................................ 3 1.3 Tujuan .............................................................................................. 3 1.3.1 Tujuan Umum ......................................................................... 3 1.3.2 Tujuan Khusus ........................................................................ 3 1.4 Manfaat Penelitian ........................................................................... 3 1.4.1 Manfaat Masyarakat ............................................................... 3 1.4.2 Manfaat Akademis .................................................................. 4 1.4.3 Manfaat Klinis ........................................................................ 4 BAB II TINJAUAN PUSTAKA...................................................................... 5 2.1 Kelenjar tiroid .................................................................................. 5 2.1.1Anatomi Kelenjar Tiroid ......................................................... 5 2.1.2 Embriologi Kelenjar Tiroid .................................................... 6 2.1.3 Struktur Hormon Tiroid ........................................................ 6 2.1.4 Fisiologi Hormon Tiroid ........................................................ 7 2.2 TSH.................................................................................................. 12 2.2.1 TSH Serum ............................................................................. 13 i 2.3 FT4 ............................................................................................... 13 2.4 Hipotiroid......................................................................................... 13 2.4.1 Definisi Hipotiroid.................................................................. 13 2.4.2 Etiologi ................................................................................... 14 2.5 Hipotiroid Kongenital ...................................................................... 14 2.5.1 Definisi Hipotiroid Kongenital .............................................. 14 2.5.2 Epidemiologi .......................................................................... 15 2.5.3 Etiologi ................................................................................... 15 2.5.4 Klasifikasi Hipotiroid Kongenital .......................................... 18 2.5.5 Manifestasi Klinis .................................................................. 20 2.5.6 Penegakan Diagnosis ............................................................. 24 2.5.7 Prognosis ................................................................................ 27 2.6 Perawakan Dismorfik ...................................................................... 27 2.6.1 Klasifikasi Perawakan Dismorfik (Kongenital Anomali) ...... 28 2.7 Hubungan Hipotiroid Terhadap Perawakan Dismorfik .............29 BAB III KERANGKA KONSEP DAN HIPOTESIS PENELITIAN ............. 31 3.1 Kerangka Konsep ........................................................................... 32 3.2 Hipotesis Penelitian ......................................................................... 33 BAB IV METODE PENELITIAN .................................................................. 34 4.1 Rancangan Penelitian ...................................................................... 34 4.2 Tempat dan Waktu Penelitian.......................................................... 34 4.3 Populasi dan Sampel ........................................................................ 34 4.3.1 Populasi .................................................................................. 34 4.3.2 Sampel .................................................................................... 34 ii 4.4 Bahan dan Instrumen Penelitian ...................................................... 35 4.5 Variabel dan Definisi Operasional .................................................. 36 4.5.1 Variabel .................................................................................. 36 4.5.2. Definisi Operasional .............................................................. 36 4.6 Prosedur penelitian .......................................................................... 38 4.7 Analisa Data .................................................................................... 39 4.7.1 Analisis chi square ................................................................. 39 4.7.2 Analisis uji koefisien korelasi ................................................ 39 BAB V HASIL PENELITIAN DAN ANALISIS DATA................................ 41 5.1 Hasil Penelitian ............................................................................... 41 5.2 Analisa Chi-Square ......................................................................... 46 5.3 Analisa Korelasi Spearman ............................................................. 47 BAB VI PEMBAHASAN ................................................................................ 51 6.1 Pembahasan .................................................................................... 51 6.1.1 Karakteristik Responden ....................................................... 51 6.1.2 Hubungan Kadar TSH dan FT4 Terhadap perawakan Dismorfik ............................................................................. 53 BAB VII KESIMPULAN ............................................................................... 59 7.1 Kesimpulan ..................................................................................... 59 7.2 Saran ............................................................................................... 59 DAFTAR PUSTAKA ...................................................................................... 60 LAMPIRAN ............................................................................................... . 63 iii DAFTAR TABEL Tabel Halaman 2.1 Skoring hipotiroid kongenital .................................................................... 25 5.1. Distribusi Subjek Penelitian Berdasarkan Jenis Kelamin ........................ 41 5.2 Distribusi subjek penelitian berdasarkan umur .......................................... 42 5.3 Distribusi subjek penelitian berdasarkan perawakan dismorfik................. 42 5.4 Tabel silang Jenis Kelamin dan Perawakan Dismorfik.............................. 43 5.5 Tabel silang Usia dan Perawakan Dismorfik ............................................. 44 5.6 Distribusi frekuensi subjek penelitian berdasarkan kadar TSH ................. 44 5.7 Distribusi Frekuensi subjek penelitian berdasarkan kadar FT4 ................. 45 5.8 Tabel silang tentang perawakan dismorfik, kadar TSH dan kadar FT4 .... 45 5.9Pengujian analisa Chi-square terhadap kadar FT4 ...................................... 46 5.10 Crosstab kadar TSH dalam darah....................................................................... 47 5.11 Hasil Pengujian Korelasi spearman untuk Data FT4 yang berskala numerik dihubungkan dengan kelompok perawakan dismorfik berdasarkan suspect hipotiroid kongenital.............................................. 47 5.12 Hasil Pengujian Korelasi spearman untuk Data TSH yang berskala numerik dihubungkan dengan kelompok perawakan dismorfik berdasarkan suspect hipotiroid kongenital.............................................. 48 5.8 tabel silang perawakan dismorfik, kadar TSH dan kadar FT4 ................... 54 iv DAFTAR GAMBAR Gambar Halaman 2.1 Anatomi kelenjar tiroid ............................................................................. 5 2.2 Struktur kimia tiroksin (T4) dan triiodotironin (T3) ................................ 7 2.3 Sintesis hormon tiroid pada folikel tiroid ................................................. 8 2.4 Sumbu hipotalamus-hipofisis-tiroid .......................................................... 11 2.5 Bayi dengan hipotiroid kongenital. Lidah besar, hipotoni, ikterus, wajah sembab serta letargi. ....................................................................... 21 2.5 Anak perempuan dengan hipotiroid kongenital. ....................................... 22 5.1. Distribusi Subjek Penelitian Berdasarkan Jenis Kelamin ........................ 41 5.2 Distribusi subjek penelitian berdasarkan umur .......................................... 42 5.3 Distribusi subjek penelitian berdasarkan perawakan dismorfik................. 43 5.6 Distribusi frekuensi subjek penelitian berdasarkan kadar TSH ................. 44 5.7 Distribusi Frekuensi subjek penelitian berdasarkan kadar FT4 ................. 45 5.8 grafik linieritas kadar FT4 terhadap perawakan dismorfik ........................ 48 5.9 grafik linieritas antara kadar TSH dengan perawakan dismorfik............... 49 v DAFTAR LAMPIRAN Lampiran Halaman 1. Kuisioner skrining hipotiroid kongenital .................................................... 63 2. Lembar penjelasan ....................................................................................... 64 3. Lembar pernyataan Persetujuan setelah penjelasan (informed consent) Kesediaan mengikuti penelitian .................................................................. 65 4. Panduan dalam Pemeriksaan Fisik Perawakan Dismorfik .......................... 67 5. Hasil Penelitian .......................................................................................... 72 6. Output Hasil Analisa Data ......................................................................... 73 7. Dokumentasi Proses Pengambilan Darah .................................................. 78 vi DAFTAR PUSTAKA 1. R. Kapoor and S. Gupta, 2008. “Prevalence of congenital heart disease, Kanpur, India,” Indian Pediatrics, vol. 45, no. 4, pp.307–311. 2. R. Smitha, S. Karat, D. Narayanappa, B. Krishnamurthy, S. N. Prasanth, and N. 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