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Abstrak :
ABSTRAK
Hipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkan dampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosis tepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan dan perkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupun ada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital (SHK) untuk menemukan kasus bayi yang menderita HK. Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkes tentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHK tahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkan outcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkan data riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung. Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positif menderita HK. Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosis inisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasil Tersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan pada penyimpangan tumbuh kembang. Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihat adanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HK yang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolongan medis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining dan terapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegah akibat gejala gangguan tumbuh kembang.

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ABSTRACT
Congenital hypothyroidism (CH) is a congenital disorder that can have an impact in the form of permanent mental retardation. Giving the right dose of levothyroxine at the earliest possible age, can prevent the disruption of growth and development. Newborns do not show symptoms of CH, and unfortunately the symptoms appear in the late period and in many cases it shows growth disorders. The congenital hypothyroidism screening (CHS) program has been implemented to find infant cases with CH, and followed up with treatment. Although it has been made since 2006, Minister of Health just issued the regulation in 2014 on the implementation of CHS in Indonesia. This economic evaluation of the CHS program in 2014-2015 was done using cost analysis, while outcome obtained from the systematic review (SR). The assumptions used in the analysis were developed based on real data from a CHS screening program in two referral laboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies were found as CH positive cases. The result of the SR revealed that the earlier onset of initiation therapy, the more adequate dose and the more continuous therapy given to the patient, the better result will be achieved. It will prevent the patients from severe complications of CH and will improve the quality of thegrowth and development. The study found that the economic benefit is achieved in the second year of CH treatment, since the pathological symptoms generally appear at the age of 3-6 month and parents seek care in the second year. Consequently, cost to treat patients will increase. The cost of screening and early treatment was found worthy as compared to economic loss resulting from growth disorders

Abstrak :
ABSTRACT
Congenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low. Since many districts have their own public healthcare facilities to screen and diagnose congenital hypothyroidism in children at very young age, a delayed diagnosis in adulthood is actually a rare case. In this medical illustration, we report a case of 21 year-old woman who came to our hospital with abdominal pain. She had mental retardation with no capability to communicate well with other person. She had a short stature (her height was less than 1 meter). She also had mongoloid face with big lips and a very big tongue. There was no goiter or lump on her neck. Her motoric performance was very weak and frail. During abdominal examination, we could see an umbilical bulging on her abdominal wall and on palpation, we could feel an umbilical hernia. By abdominal ultrasound, we could see the umbilical hernia. Unfortunately, no diagnosis of congenital hypothyroidism had been made when she was a newborn, there was also no past or known history of thyroid disease of her and her family. She had a diagnosis of mental retardation with no specific etiology since she was 5-years old. Based on the results of her laboratory examination, we had a confirmed diagnosis of primary hypothyroidism with T4 10,56 nmol/L (normal 60-120 nmol/L) and TSH > 100 mIU/mL. We provided her treatment using levothyroxine based on her body weight (25 mg daily). We arranged her to have abdominal CT Scan and digestive surgery as further management for her umbilical herniation. Some defects are correlated with congenital hypothyroidism when the disease is not treated properly and adequately. Neurocognitive, neuromotoric, growth, and development are some areas which can be disrupted by long-term hypothyroidism condition for patients who had the disease since their early years of life. Congenital hypothyroidism appears to be associated with an increased risk of congenital malformations. Several congenital malformations associated with congenital hypothyrodism are umbilical hernia, congenital heart disease, neurologic abnormalities, genitourinary malformations, cleft palate, and Downs syndrome. Studies concluded that severity of the congenital hypothyroidism has more important role than timing of treatment initiation on long-term cognitive and motor outcomes. Detrimental effects on developmental outcomes in congenital hypothyroidism patients may persist over time; however, early treatment for patients at very early ages may bring the best cognitive outcomes and neuromotoric development. Regardless of the treatment options, we can say that it is a loss case and a very late diagnosis and treatment of congenital hypothyroidism. The unusual age of detection, delayed diagnosis and treatment are some reminders for primary care physicians in our society to pay greater attention to screening programs. 6 Early detection and prompt treatment is an essential part of measures to reduce burden of mental retardation in our society. Delayed diagnosis of congenital hypothyroidism case, which is diagnosed at adulthood, indicates failure in screening program. Early diagnosis and treatment are necessary to prevent long-term catastrophic effects. This a wake-up call of attention and awareness for general public and primary care physicians in our country.

Abstrak :
ABSTRAK
Hipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkan dampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosis tepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan dan perkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupun ada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital (SHK) untuk menemukan kasus bayi yang menderita HK.

Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkes tentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHK tahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkan outcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkan data riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung. Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positif menderita HK.

Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosis inisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasil tersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan pada penyimpangan tumbuh kembang.

Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihat adanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HK yang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolongan medis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining dan terapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegah akibat gejala gangguan tumbuh kembang.

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ABSTRACT
Congenital hypothyroidism (CH) is a congenital disorder that can have an impact in the form of permanent mental retardation. Giving the right dose of levothyroxine at the earliest possible age, can prevent the disruption of growth and development. Newborns do not show symptoms of CH, and unfortunately the symptoms appear in the late period and in many cases it shows growth disorders. The congenital hypothyroidism screening (CHS) program has been implemented to find infant cases with CH, and followed up with treatment.

Although it has been made since 2006, Minister of Health just issued the regulation in 2014 on the implementation of CHS in Indonesia. This economic evaluation of the CHS program in 2014-2015 was done using cost analysis, while outcome obtained from the systematic review (SR). The assumptions used in the analysis were developed based on real data from a CHS screening program in two referral laboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies were found as CH positive cases.

The result of the SR revealed that the earlier onset of initiation therapy, the more adequate dose and the more continuous therapy given to the patient, the better result will be achieved. It will prevent the patients from severe complications of CH and will improve the quality of thegrowth and development..

The study found that the economic benefit is achieved in the second year of CH treatment, since the pathological symptoms generally appear at the age of 3-6 month and parents seek care in the second year. Consequently, cost to treat patients will increase. The cost of screening and early treatment was found worthy as compared to economic loss resulting from growth disorders.

Abstrak :
ABSTRAK
Latar Belakang: Hipotiroid kongenital merupakan salah satu penyebab paling umum terjadinya retardasi mental. Padahal, terjadinya komplikasi hipotiroid kongenital dapat dicegah sejak dini. Oleh karena itu, skrining hipotiroid kongenital dengan mengukur kadar TSH menjadi penting terutama pada bayi yang berisiko lebih tinggi terkena hipotiroid kongenital. Usia prematur diduga menjadi salah satu faktor risiko hipotiroid kongenital karena terkait imaturitas organ.Tujuan: Penelitian ini dilakukan dengan tujuan mengetahui persentase bayi prematur, nilai rujukan TSH neonatus di Indonesia, dan hubungan antara kadar TSH neonatus dan status prematuritas.Metode: Desain penelitian yang digunakan adalah studi potong lintang dengan subjek berasal dari data skrining hipotiroid kongenital RSUPN Dr. Cipto Mangunkusumo yang sampel darahnya dianalisis dengan cara Fluorometri dengan reagen Labsystem. Data berasal dari bulan Mei dan Juni 2017 yang diperoleh melalui teknik consecutive sampling. Dari 2987 subjek, terdapat 1700 subjek yang memenuhi kriteria inklusi dan eksklusi. Subjek dibagi menjadi kelompok bayi prematur n=111 dan bayi lahir cukup bulan n=1589 . Sampel kemudian dianalisis menggunakan SPSS versi 20.0 untuk mengetahui hubungan kadar TSH dan status prematuritas dengan uji Mann-Whitney dan uji korelasi, serta MedCalc versi 17.9 untuk mencari nilai rujukan TSH neonatus di Indonesia.Hasil: Persentase bayi prematur yang didapatkan yaitu sebesar 6,5 . Nilai rujukan TSH neonatus berdasarkan kelahiran prematur didapatkan nilai 1,0-8,9 mU/L dengan median 2,5 1,0-12,8 mU/L dan berdasarkan kelahiran cukup bulan sebesar 1,5-8,0 mU/L dengan median 3,2 1,0-19,8 mU/L. Analisis menggunakan uji Mann-Whitney, didapatkan hubungan bermakna antara kadar TSH neonatus dan status prematuritas p.

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ABSTRACT
Background Congenital hypothyroid is one of the most common causes of mental retardation. Actually, this complication can be prevented since earlier. Therefore, congenital hypothyroid screening by measuring TSH level is important to every infants, especially in higher risk of developing congenital hypothyroid. Prematurity is hypothesised as one of risk factor for congenital hypothyroid related to organ immaturity.Objective The aim of this study is to determine the percentage of preterm birth, neonatal TSH reference values in Indonesia, and association between neonatal TSH level with prematurity status.Methods This cross sectional study used subjects which was obtained from congenital hypothyroid screening data in General National Hospital Dr. Cipto Mangunkusumo from May to June 2017 by consecutive sampling. The screening of congenital hypothyroid used Fluorometry with Labsystem reagen to analyse blood samples. From 2987 subjects, 1700 subjects fulfilled the inclusion and exclusion criteria. Subjects were divided into two groups preterm infants n 111 and term infants n 1589 . Then, samples were analysed with SPSS version 20.0 to investigate association between neonatal TSH level with prematurity status by Mann Whitney test and correlation test, also MedCalc version 17.9 to calculate neonatal TSH reference values.Results The percentage of preterm infants was 6.5 . Neonatal TSH reference values based on preterm birth infants were 1.0 8.9 mU L with median 2.5 1.0 12.8 mU L and based on term infants were 1.5 8.0 mU L with median 3.2 1.0 19.8 mU L. There was also a significant association between neonatal TSH level and prematurity status Mann Whitney test, p