A
SYNOPSIS OF DISSERTATION FOR SUBMISSION TO ETHICAL COMMITTEE OF AJ INSTITUTE OF MEDICAL SCIENCES MANGALORE
|1 |Name of the Candidate and Address |DR. NISHA CHACKO, |
| | |Department of Paediatrics, |
| | |A.J Institute of Medical Sciences, Kuntikana, Mangalore |
|2 |Name of the Institution |A.J Institute of Medical Sciences (Rajiv Gandhi University), |
| | |Kuntikana, Mangalore |
|3 |Course of Study and Subject |M.D. in Paediatrics |
| | |(3 Years Degree Course) |
|4 |Date of Admission to the Course |25 th May,2009 |
|5 |Title of the Topic: |“CLINICAL STUDY OF CONGENITAL HYPOTHYROIDISM AND ITS CORRELATION |
| | |WITH TECHNETIUM SCAN ”. |
|6. |BRIEF RESUME OF THE INTENDED WORK: |
| |6.1 Need for the study |
| |Congenital hypothyroidism (CH) can be defined as a lack of thyroid hormones present from birth which unless detected and |
| |treated early, is associated with irreversible neurological problems and poor growth. |
| |Congenital hypothyroidism is twice as common in girls as boys. The clinician is dependant on neonatal screening test for |
| |diagnosis of congenital hypothyroidism. Before neonatal screening programs, congenital hypothyroidism was rarely |
| |recognised in new born because the signs and symptoms are not sufficiently developed. It can be suspected and the |
| |diagnosis established during the early weeks of life if the initial, but less characteristics manifestations are |
| |recognised. Prolongation of physiological jaundice, feeding difficulties, especially sluggishness, lack of interest and |
| |choking spells during nursing are often present during the first months of life. Typical respiratory distress syndrome |
| |may occur. Affected infants cry little, sleep much, have poor appetite. There may be constipation that usually does not |
| |respond to treatment. 8 |
| |Hypothyroidism is one of the most common and treatable endocrine disease in which there is insufficient amount of thyroid|
| |hormones.Its absence causes mental and physical slowing, poor resistance to cold and in children, mental retardation and |
| |dwarfism. The overall prevalence of Congenital Hypothyroidism (CH) is 1 per 4000 while that of acquired hypothyroidism is|
| |1:500-1000. |
| |The most serious ill effect of congenital hypothyroidism is permanent brain damage and the ensuing mental |
| |retardation.Early diagnosis is essential,but diagnosis on clinical ground alone in the neonatal period is difficult |
| |because of the paucity of signs and symptoms which are often subtle and non specific. |
| |6.2 Review of Literature |
| |A study was done in Japan and published in Endocrinology Journal 2002 June;49(30):293-7.According to this study, |
| |ultrasonographic images of the thyroid gland with a high-resolution transducer were obtained in 204 healthy infants aged |
| |from newborn to 12 months (Group A), and 174 infants suspected of having CH detected by neonatal mass screening (Group |
| |B). The thyroid gland was imaged by transverse scanning at the anatomic site of the thyroid gland. By comparing with the |
| |normal thyroid gland size and location obtained from Group A, 174 infants of Group B were divided into four subgroups: 1)|
| |Normal in size (n = 117), 2) Enlarged (n = 33), 3) Small (n = 1) and 4) Invisible in the normal location (n = 23). They |
| |were compared with the final diagnoses based on the results of chemical laboratory data and scintigraphic findings.It was|
| |concluded that, ultrasonography is useful for determining the presence or absence of the thyroid gland in the normal |
| |location, whereas normal and enlarged sized glands require further examination to complete the diagnosis.1 |
| |A study was done in Oakland,USA and published in NJEP Pediatrics. 2004 Dec;114(6):e683-8 .This study was done to define |
| |the role of thyroid scintigraphy in diagnosing and managing newborn CH.It was concluded that,Initial laboratory diagnosis|
| |is simple and sufficiently accurate; treatment is simple, inexpensive, and effective. Severe mental retardation and |
| |growth failure can be prevented. Considering today's rapid advances in understanding the basic mechanisms of thyroid |
| |embryogenesis and gene abnormalities, thyroid scintigraphy may provide insight into clinical and genetic correlates in |
| |CH.2 |
| |A study was done in 2002 and published in J Trop Pediatr.J 2006 Dec;52(6):411-5. Epub 2006 Aug 30. The aim of this study|
| |was to evaluate thyroid scintigraphy (TS) findings in infants with CH and to determine the relationship of serum TSH and |
| |T4 values with thyroid agenesia, in an attempt to identify factors that may detect thyroid agenesia before treatment. It |
| |was concluded that Tc-99m TS is a useful diagnostic tool for the initial investigation of suspected CH and considering |
| |the correlation of TS results with blood TSH levels, proper management and close monitoring of hypothyroid infants with |
| |severe hormonal alterations is necessary for the detection of thyroid agenesia.3 |
| |A study was published in Journal of Paediatrics,volume 144,Issue 6 (June 2004)the year 2004.This study was done to know |
| |if congenital hypothyroidism had succeeded or not.It was concluded that early diagnosis and treatment would prevent the |
| |progressive brain damage typically seen in late treated cretinism.Mental retardation has been eradicated and affected |
| |individuals show normal development and achievements into adulthood.4 |
| |A study was done in Indiana University School of Medicine in the year 2004 and published Indiana Journal of |
| |Paediatrics.2004 May;144(5):643-7 .In this study children above 3 years of age without any identified permanent cause |
| |were asked to discontinue thyroxine for a period of 4 weeks and thyroid function tests and thyroid ultrasound were |
| |obtained.An abnormal ultrasound was followed by Technetium scan.The conclusion was that a significant percentage of |
| |children with congenital hypothyroidism have a transient requirement tor thyroid hormone and its safe to discontinue |
| |thyroxine for a period of 4 weeks in children above 3 years of age.5 |
| |A study was done and published in the year 2006 in the American Academy of Paediatrics. According to this study, if |
| |congenital hypothyroidism is detected early in infants and treatment begun,normal development of mental function can |
| |occur.If treatment is delayed spasticity,gait problems and dysarthria and profound mental disability may result.For |
| |reaching this conclusion,developmental quotient and ability asessment covering the 4 areas were considered 6 |
| |A study was conducted in the year 2008 and published in Acta Paediatrica,volume 79 Issue 12,pages 1194-1198.This study |
| |comprised of 54 neonates with congenital hypothyroidism identified by North East and North West Thames Regional |
| |hypothyroid screenig programme..In this study,comparison of radioisotope and ultrasound imaging in 54 cases of congenital|
| |hypothyroidism was pared to the radioisotope scans,ultrasound identified normally sited thyroid tissue in only 7 |
| |out of 10 cases and ectopic thyroid tissue in only 5 out of 26 cases.Three out of 18 cases with no isotope uptake in the|
| |neck appeared to have normally sited tissue on ultrasound.Therefore, it was concluded that ultrasound of the neck has |
| |only limited value in the assessment of young infants with congenital hypothyroidism.7 |
| | |
| |6.3 Objective of the Study |
| |Primary: |
| |To find out the common presenting features of congenital hypothyroidism. |
| |To correlate the clinical features and T3, T4,TSH values with ultrasound and Technitium scan findings. |
| |To identify the etiology of congenital hypothyroidism in children who were previously diagnosed to have |
| |congenital hypothyroidism |
| |Secondary: |
| |1. To find out the male:female ratio |
| |2. Outcome of the study by anthropometric assessment, assessment of developmental milestones and academic |
| |performance |
| |3.To compare the sensitivity of ultrasound neck and Technetium |
| |scan. |
|7. |Materials and Methods: |
| |7.1 Source of Data |
| |It is a hospital based study.Eligible subjects were children who were detected to have congenital hypothyroidism before 1|
| |year of age and presently above the age of 3 years,on thyroxine and all freshly detected cases of congenital |
| |hypothyroidism below 1 year of age. After thyroxine was discontinued for 4 weeks, thyroid function tests, ultrasound neck|
| |and Technetium scan were obtained. |
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| | |
| |7.2 Method of the Collection of the Data |
| |Study Design: Two year clinical study |
| |Sample size: 30 children |
| |Sample: It is a hospital based study. |
| |1.All babies that were diagnosed to have hypothyroidism at birth or fresh cases below 1 yr of age ,prior to the |
| |initiation of thyroxine . |
| |2.Those children who were detected to have hypothyroidism within the 1st year of life and presently above 3 yrs of age |
| |in A.J. Hospital, Mangalore. |
| |Place: A.J.Hospital, Kuntikana, Mangalore |
| |Duration: Two years from December 2009 to December 2011. |
| |Method: All those children above 3 yrs of age who were diagnosed to have congenital hypothyroidism on thyroxine, are |
| |advised to stop thyroxine for a period of 4 weeks and all newly detected cases of congenital hypothyroidism are subjected|
| |for thyroid function test.All children with abnormal thyroid function are subjected to an ultrasound neck and Technetium |
| |scan. |
| |Outcome of the study is detected by assessing the development, anthropometry, academic performance ,ultrasound neck and |
| |Technetium scan findings. |
| |Inclusion Criteria |
| |1.Children below 16 and above 3 years of age who were diagnosed to have hypothyroidism before 1 year of age on thyroxine.|
| |2.All freshly detected cases of congenital hypothyroidism below 1 year of age prior to starting thyroxine. |
| | |
| |Exclusion Criteria |
| | |
| |1.Babies who were diagnosed to have hypothyroidism after 1 year of age. |
| |2.Children presenting with clinical features of hypothyroidism after 1 year of age. |
| |3.Babies with metabolic or neurodegenerative diseases. |
| |4.Babies with chromosomal or genetic defects |
| | |
| |Data Analysis: |
| |7.3 Does the study require any investigations or interventions to be conducted on patients or other humans or animals? If|
| |so, please describe briefly. |
| |Yes |
| |1.Stopping of thyroxine for a period of 4 weeks |
| |2.Ultrasound neck and Technitium scan for finding out the underlying etiology |
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| |List of References |
| |1.Ohnishi H, Inomata H, Watanabe T, Wataki K, Sato H, Sanayama K, Noda H, Yasuda T, Niimi H |
| |Clinical utility of thyroid ultrasonography in the diagnosis of congenital hypothyroidismEndocr J. 2002 |
| |Jun;49(3):293-7 |
| |2. Schoen EJ, Clapp W, To TT, Fireman BH |
| |The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital |
| |hypothyroidismPediatrics. 2004 Dec;114(6):e683-8 in NJEP |
| |3.Iranpour R, Hashemipour M, Amini M, Talaei SM, Kelishadi R, Hovsepian S, Haghighi S, Khatibi Kh |
| |[Tc]-99m thyroid scintigraphy in congenital hypothyroidism screening program: J Trop Pediatr. 2006 Dec;52(6):411-5. Epub |
| |2006 Aug 30 |
| |4.Mosby, Inc. - In search of the optimal therapy for congenital hypothyroidism.. |
| |Journal of Pediatrics - Volume 144, Issue 6 (June 2004) |
| |5.Eugster EA, LeMay D, Zerin JM, Pescovitz O, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA. |
| |.Definitive diagnosis in children with congenital hypothyroidism. 1: J Pediatr. 2004 May;144(5):643-7. |
| |6.Guidelines of congenital hypothyroidism (American Academy of Paediatrics) Update of newborn screening and therapy for |
| |congenital hypothyroidism. Paed 2006 June, 117(6):2290-303(Pubmed) |
| |7. Acta Pædiatrica |
| |Volume 79 Issue 12, Pages 1194 - 1198 |
| |Published Online: 21 Jan 2008 |
| |Journal Compilation © 2009 Foundation Acta Pædiatrica |
| |Neonatal Hypothyroidism:Comparison of radioisotope and ultrasound imaging in 54 cases of congenital hypothyroidism |
| |8.Nelson Text book of Paediatrics(2008 edition)Topic:Hypothyroidism,page no.2319 |
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