HIPOTIROID KONGENITALDr.Vivekenanda Pateda,SpABAGIAN ILMU KESEHATAN ANAKUNSRAT MANADO

DefinisiSuatu keadaan produksi hormon tiroid yang tidak mampu memenuhi kebutuhan tubuh dan bisa mengakibatkan retardasi mental

InsidenBerbagai negara rata-rata 1 : 3000-4000Pada sindrom down insiden 1 : 141Perempuan : laki-laki = 2 :1RSCM (1992-2004) 93 kasus (Perempuan 61% dan laki-laki 39%)

Fisiologi Sumber: http://www.apcweb.com/copyright.html

Klasifikasi

KlasifikasiHipotiroid primer Kelainan pada tiroid baik kongenital atau didapatHipotiroid sekunder Kelainan di hipofisisHipotiroid tersier Kelainan di hipotalamus

THYROID AXIS TRHPRIMARYSECONDARYTERTIER

EtiologiCraniopharyngiomaTumor hipofisisDisgenesis (80-90%)Aplasia/hipoplasiaDishormonogenesi (5-10%)Tersier(hipotalamus)Sekunder(hipofisis)Primer(tiroid)

Hasil Skrining Hipotiroid Kongenital

PatofisiologiKel tiroid abnormalpelepasan hormon tiroidTahap awal T4masih rentang normal{ } T4 bebaskonversi T4 ke T3TSH TSH stimulasi kel tiroid sintesis dan penglepasan T4 dan T3

Manifestasi klinis

Manifestasi klinisAsimptomatikWajah dismorfik: miksedema, hidung pesek, hipertelorisme, makroglosia Ubun-ubun anterior & posterior melebar Kesulitan makan, konstipasi, distensi abdomen, hernia umbilikalis

Manifestasi klinisObstruksi sal nafas,apneaKulit kering, retardasi mental, perawakan pendek, gangguan pendengaran Kelainan jantung: bradikardi, bising jantung, kardiomegali

Diagnosis

Manifestasi klinis Laboratorium Fungsi tiroid T4 dan TSHs,T3,TBG Bila T4 dan TSHsHIPOTIROID Pemeriksaan darah perifer ; anemia Radiologis Bone age (usia tulang): delayed Skintigrafi tiroid Pemeriksaan telinga : BERA

Indeks Neonatal HipotiroidSkor: HK 4; bayi normal 2 fT4 & TSHsTidak bermanfaat pada usia > 6 bulan(Letarte, Garagorri,1989)

Gejala KlinisSkor1.Gangguan makan12.Konstipasi 13.Tidak aktif14.Hipotoni15.Hernia umbilikalis (>0.5cm)16.Makroglosi17.Kutis marmorata18.Kulit kering1.59.Ubun-ubun besar lebar (>0.5cm)1.510.Fasies khas3Total13

ALUR PENAPISANRUJUK

PenatalaksanaanNatrium levotiroksin (seumur hidup) Tujuan: mencapai kadaT4 & kadar TSH yang normal

Dosis L tiroksinUmur dosis(g/kg)0-3 bln 10-153-6 bln 8-106-12bln 6-81-5thn 5-66-12thn 4-5>12 thn 2-3

Pemantauan AAP: Pemantauan tumbuh kembang Pemeriksaan serum T4 dan TSH:Minggu II & IV setelah terapi inisialSetiap 1 - 2 bulan sampai usia 1 tahunSetiap 2 - 3 bulan pada usia 1-3 tahunSetiap 3 12 bulan sampai pertumbuhan lengkap

PrognosisUji tapis neonatus prognosis > baik

Masalah AnemiaKeterlambatan bicaraRetardasi mentalGangguan pendengaranPerawakan pendekGagal tumbuh

Hasil IntervensiSetelah intervensi

*The low T4, nonelevated TSH profile is seen in 3% to 5% of neonates on newborn screening, but these infants rarely have thyroid insufficiency. These results often can be explained by immaturity of the hypothalamic-pituitary axis, which is seen more frequently in premature infants. Less common thyroid problems include protein-binding abnormalities, such as TBG deficiency, hypopituitary hypothyroidism, and primary hypothyroidism associated with delayed TSH rise or mild TSH elevation. Over the 20-year period between 1975 and 1995, such follow-up detected 63 infants with hypothyroidism, including 29 infants with hypopituitary hypothyroidism, 25 infants with delayed TSH rise, and 9 infants with mild hypothyroidism (TSH < 25).Perhaps the most serious condition causing a low T4 without elevation of TSH is hypopituitary hypothyroidism. Hypopituitary hypothyroidism is a relatively rare condition (1:60,269) and is often associated with other hormonal deficiencies. Recognition of clinical signs and symptoms of hypopituitarism, such as hypoglycemia, microphallus, or prolonged jaundice, will aid in the diagnosis of these infants. An advantage of follow-up of low T4, nonelevated TSH test results is the early recognition of affected infants, leading to earlier identification of other associated hormone deficiencies, or congenital ophthalmologic or neurologic abnormalities, and prevention of their complications.