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"ABSTRACTCongenital 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."

"ABSTRAKLatar 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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ABSTRACTBackground 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"

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak 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 positifmenderita 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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ABSTRACTCongenital 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"

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosistepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan danperkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupunada, 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 Permenkestentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHKtahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkanoutcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkandata riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung.Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positifmenderita HK.Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosisinisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasiltersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan padapenyimpangan tumbuh kembang.Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihatadanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HKyang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolonganmedis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining danterapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegahakibat gejala gangguan tumbuh kembang.

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

"Hipotiroid kongenital didefisikan sebagai kurangnya hormon tiroid yang mempengaruhi anak sejak lahir (kongenital) disebabkan kegagalan perkembangan kelenjar tiroid atau ektopik sehingga berpengaruh bagimetabolisme, pertumbuhan dan perkembangan otak yang normal Hipotiroid kongenital mempengaruhi perkembangan fisik, intelektual, dan juga emosi serta perilaku anak. Penelitian mengenai permasalahan fisik dan medis anak hipotiroid kongenital sudah banyak dilakukan namun penelitian pada aspek psikologi khususnya emosi dan perilakunya masih minim. Oleh karena itu penelitian ini bertujuan untuk mendapatkan gambaran mengenai masalah emosi dan perilaku anak penderita hipotiroid kongenital yang dilakukan melalui metode observasi, wawancara, tes CBCL 4/18 dan AAMD- Adaptive Behaviour Scale Bagian II.Penelitian ini menggunakan pendekatan kualitatif yang bersifat deskriptif Subjek penelitian diambil dari 3 pasien anak dengan diagnosa hipotiroid kongenital di bagian Endokrin RSCM, Jakarta. Hasil penelitian menunjukkan terdapat masalah perilaku sosial, masalah atensi, perilaku agresif, dan reaksi buruk terhadap frustrasi anak penderita hipotiroid kongenital. Selanjutnya pada masing-masing anak terdapat variasi masalah emosi dan perilaku lainnya 1 subjek mengalami masalah perilaku menarik diri, keluhan somaris, mudah terganggu, masalah perilaku sosial, masalah atensi, perilaku soliter dan perilaku tidak menyenangkan.Subjek lainnya mengalami masalah perilaku sosial, masalah atensi, perilaku tidak menyenangkan dan seorang subjek lagi mengalami keluhan somatis, masalah perilaku sosial dan masalah atensi. Hasil penelitian ini juga menemukan adanya perubahan perilaku sebelum dan sesudah pengobatan hipoliroid, yang awalnya pasif menjadi aktif dan lebih agresif."

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Kanker nasofaring merupakan pertumbuhan sel secara abnormal yang berkembang di sekitar nasofaring. Kanker nasofaring menempati urutan keempat sebagai kanker dengan angka kejadian terbanyak di Indonesia. Pengobatan pada pasien kanker nasofaring meliputi kemoterapi, radioterapi, atau gabungan dari keduanya. Kedua pengobatan tersebut memiliki efek samping pada pasien yang dapat bersifat akut (kurang dari 3 bulan) ataupun kronik (lebih dari 3 bulan). Pada penelitian ini, akan difokuskan pada penyakit hipotiroid sebagai efek samping dari radioterapi pada pengobatan pasien penderita kanker nasofaring. Hipotiroid adalah kondisi ketika kelenjar tiroid tidak mampu menghasilkan hormon tiroid yang cukup. Penelitian ini memiliki dua tujuan utama, yaitu mengidentifikasi faktor-faktor yang berasosiasi dengan penyakit hipotiroid dan mengetahui hubungan penyakit hipotiroid dengan kualitas hidup. Untuk mencapai tujuan pertama, akan digunakan metode classification tree dan regresi logistik. Classification tree digunakan untuk memperoleh variabel-variabel penting dalam pengklasifikasian kelas subjek. Kemudian, regresi logistik digunakan untuk mengkuantifikasi risiko dari variabel-variabel yang muncul pada classification tree, faktor-faktor risiko penyakit hipotiroid, dan faktor-faktor penanda penyakit hipotiroid. Berdasarkan analisis, diperoleh bahwa secara keseluruhan faktor-faktor yang berasosiasi pada penelitian ini adalah variabel symptom, physical sign, kebiasaan merokok, jenis kelamin, usia, IMT, hormon TSH (Thyroid Stimulating Hormon) dan fT4 (free tiroksin), serta semua item pada skor Zulewski, kecuali item delayed ankle reflex dan slow movements. Selanjutnya, untuk mencapai tujuan kedua, yaitu mengetahui hubungan penyakit hipotiroid dengan kualitas hidup pasien, akan digunakan metode regresi linear dan crosstab. Berdasarkan hasil dari analisis regresi linear, diperoleh bahwa penyakit hipotiroid cenderung sejalan dengan penurunan kualitas hidup. Pada data penelitian ini, penyakit hipotiroid cenderung memiliki efek terhadap domain fungsi sosial dan emosi, serta berdampak pada peningkatan beberapa gejala, seperti gejala kelelahan, nyeri, insomnia, dan konstipasi, serta meningkatkan masalah kesulitan finansial. Selanjutnya, berdasarkan analisis crosstab, diperoleh bahwa seseorang yang memiliki penyakit hipotiroid berisiko sekitar enam kali lebih besar untuk memiliki trend kualitas hidup yang turun dibandingkan seseorang yang normal.

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Nasopharyngeal cancer is an abnormal cell growth that develops around the nasopharynx. Nasopharyngeal cancer is the fourth common cancer in Indonesia. Treatment of nasopharyngeal cancer patients includes chemotherapy, radiotherapy, or a combination of both. Both of these treatments have side effects in patients who can be acute (less than 3 months) or chronic (more than 3 months). In this study, we will focus on hypothyroidism as a side effect of radiotherapy in the treatment of patients with nasopharyngeal cancer. Hypothyroidism is a condition when the thyroid gland is unable to produce enough thyroid hormone. This study has two main objectives, namely identifying the factors associated with hypothyroidism and knowing the relationship of hypothyroidism with quality of life. To achieve the first objective, classification tree and logistic regression methods will be used. Classification tree is used to obtain important variables in the classification of subject classes. Then, logistic regression is used to quantify the risk of variables that appear in the classification tree, hypothyroidism risk factors, and hypothyroidism marker factors. Based on the analysis, it was found that overall the factors associated in this study were variable symptom, physical sign, smoking habits, sex, age, BMI, TSH (Thyroid Stimulating Hormone) and fT4 (free thyroxine) hormone, and also all items on Zulewski's score, except items delayed ankle reflex and slow movements. Furthermore, to achieve the second goal, linear regression and crosstab methods will be used. Based on the results of linear regression analysis, it was found that hypothyroidism tends to reduce quality of life. In this research data, hypothyroidism tends to have an effect on the domain of social and emotional functioning, and has an impact on improving several symptoms, such as symptoms of fatigue, pain, insomnia, and constipation, and also increasing the problem of financial difficulties. Furthermore, based on the crosstab analysis, it was found that someone who has hypothyroidism is about six times more likely to have a decreased quality of life trend than someone who is normal.

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"Wanita bermukim di daerah pertanian berisiko terpajan pestisida yang dapat berakibat hipotiroidisme yang pada kehamilan dapat menyebabkan gangguan tumbuh-kembang janin. Tujuan penelitian ini adalah mengetahui angka kejadian keracunan pestisida dan hipotiroidisme pada wanita usia subur di daerah pertanian. Penelitian ini menggunakan disain penelitian cross-sectional dan 26 WUS terpilih sebagai subjek secara acak. Semua subjek dilakukan pengukurankadar TSH, fT4 dan enzim kolinesterase, sementara kadar T3, UEI, dan Pb darah diukur pada sub-sampel. Penderita dinyatakan keracunan pestisida apabila ditemukan kadar enzim kolinesterase <3,9 μg/L dan dinyatakan hipotiroidisme apabila kadar TSH >4,5 μIU/L. Penelitian ini menemukan rerata kadar kolinesterase adalah 7,26 (±1,28) dengan kisaran nilai 5,33-9,39 μg/L; rerata kadar TSH adalah 5,09 (±6,14), dengan kisaran nilai 0,47-31,73μIU/L; rerata kadar fT4 adalah 15,18 (±2,09), dengan kisaran nilai 8,73-18,87 pmol/L; rerata kadar T3 adalah 1,75 (±0,51), dengan kisaran nilai 1,24-2,95 pmol/L. Prevalensi keracunan pestisida pada WUS 0,0% dan prevalensi hipotiroidisme 46,2%."

"Anomali kongenital dapat mengakibatkan kematian pada anak apabila tidak ditangani secara tepat. Pembedahan merupakan intervensi utama untuk mencegah mortalitas, namun dapat menimbulkan kecemasan pada orang tua. Kecemasan orang tua erat kaitannya dengan tingkat pengetahuan pra-operasi. Penelitian ini bertujuan untuk mengidentifikasi hubungan tingkat pengetahuan pra-operasi dan tingkat kecemasan orang tua pada anak dengan anomali kongenital. Penelitian ini menggunakan desain penelitian potong lintang (cross sectional) dengan metode consecutive sampling yang melibatkan 125 orang tua. Instrumen yang digunakan adalah instrumen pengetahuan pra-operasi dan State Trait Anxiety Inventory Form Y-1 (STAI Form Y-1). Analisis uji statistik menggunakan uji Chi-square dan Fisher exact. Hasil penelitian menunjukkan terdapat hubungan bermakna antara tingkat pengetahuan pra-operasi dan tingkat kecemasan orang tua pada anak dengan anomali kongenital (p= 0,014;α= 0,05). Penelitian ini diharapkan dapat berguna untuk pengembangan ilmu keperawatan dimasa yang akan datang terkait edukasi pra-operasi untuk menurunkan tingkat kecemasan orang tua.

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Congenital anomalies can result in death in children if not handled properly. Surgery is the main intervention to prevent mortality, but it can cause anxiety in the parents. Parental anxiety is closely related to the level of pre-operative knowledge. This study aimed to identify the relationship between preoperative knowledge and parents’ anxiety in children with congenital anomalies. The research design was cross-sectional with a consecutive sampling method involving 125 parents. The instruments used were preoperative knowledge instruments and State-Trait Anxiety Inventory Form Y-1 (STAI Form Y-1). Statistical test analysis using the Chi-square test and Fisher's exact. The results showed that there was a significant relationship between the level of preoperative knowledge and the anxiety level of parents in children with congenital anomalies (p= 0,014; α= 0,05). This research is expected to be useful for the development of nursing science in the future related to pre-surgery education to reduce parents' anxiety levels."