scholarly journals High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia

2014 ◽  
Vol 17 (1) ◽  
pp. 31-35 ◽  
Author(s):  
V. Anastasovska ◽  
Koviloska R. ◽  
Kocova M.

Abstract Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 newborns, during the period 2002-2011. The DELFIA method was applied to measure the thyroid-stimulating hormone (TSH) concentration in dried blood spot samples on standard filter paper taken 48 hours after birth by heel-stick. The TSH cut-off level was 10 mU/L. The neonatal thyroid screening coverage was 93.4%. Eight newborns with CH were detected, with an incidence of 1:1220 live births, significantly higher compared to the nationwide results 1:2602. The TSH level was not significantly dependent on the gender of the newborn. There was a statistically significant difference between the TSH level and the timing of newborn screening sampling (p <0.05) and between the TSH level and the newborn birth weight (p = 0.01). One point ninety-two percent of newborns with TSH levels above 5 mU/L indicated an iodine sufficiency in Prilep. The incidence of CH in Prilep, which is higher when compared with that reported in surrounding countries, might be a consequence of the higher percentage of the Romany population in this region. Further analysis of this population in other regions is warranted.

Background: Iodine deficiency is associated with goiter and impaired brain function. Neonatal thyroid-stimulating hormone (TSH) screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L in newborn screening corresponds to the impaired iodine status of the population. The aim: to estimate the iodine deficiency and the effectiveness of iodine prophylaxis in Krasnoyarsk territory, Republics of Tuva and Khakassia according the results of neonatal TSH_screening. Methods: An 18-year analysis was performed in 34,980 newborns participating in the national thyroid newborn screening program. The TSH concentration was measured in dry blood spots collected by heel stick on filter paper, 96 hours after birth, using DELFIA method. Results: According to the data of the congenital hypothyroidism screening the rate of TSH < 5 mU/1 was 11.8% in Krasnoyarsk territory (23.9% in 2000) and corresponded to mild iodine deficiency. In different regions of Krasnoyarsk territory the rate of TSH < 5 mU/1 in the newborn varied from 3.5% to 23.7%. The highest values were marked in the Arctic peninsula Taimyr, in cities Zheleznogorsk (nuclear facility) and Sosnovoborsk, in Irbeysky, Suchobuzimsky, Eniseysky, Tuchtetsky, Novoselovsky regions (20.9–23.7%). In the Republic of Khakasia the rate of TSH < 5 mU/1 was 12.5%. In the Republic of Tyva the rate of TSH < 5 mU/1 was – 6.6% (38.6% in 1997; 11.5% in 2000). These results indicate mild iodine deficiency. Conclusion: Our investigations show mild iodine deficiency in Central Siberia demanding continuous adequate iodine prevention. Additional assessment of the iodine intake in the regions with mild iodine deficiency is needed to prevent suboptimal cognitive and psychomotor outcomes.


2003 ◽  
Vol 10 (1) ◽  
pp. 2-4 ◽  
Author(s):  
K A Yunis ◽  
M R Nasr ◽  
G Lepejian ◽  
S Najjar ◽  
R Daher

The screening of newborn babies for congenital hypothyroidism has changed the natural history of this abnormality. We describe here a case of a female patient with congenital hypothyroidism that was missed by primary neonatal thyroid screening (using thyroid-stimulating hormone) at two days of age; it was detected only after the development and persistence of jaundice during the first three weeks of life. A normal neonatal screening result does not preclude the development of hypothyroidism later in infancy. Clinical vigilance must be maintained by practitioners. A second screening between two and six weeks of age may be useful in order to detect the few cases missed at first screening.


2005 ◽  
Vol 5 (4) ◽  
pp. 26-29 ◽  
Author(s):  
Husref Tahirović ◽  
Alma Toromanović

Primary congenital hypothyroidism is a common preventable cause of mental retardation. Neonatal thyroid screening is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p > 0.05). Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested.


2021 ◽  
Vol 7 (2) ◽  
pp. 29
Author(s):  
Altantuya Tsevgee ◽  
Khishigjargal Batjargal ◽  
Tsolmon Munkhchuluun ◽  
Naranchimeg Khurelbaatar ◽  
Gerelmaa Nansal ◽  
...  

Congenital hypothyroidism (CH) is among the most common conditions leading to intellectual disability, which can be prevented by early detection through newborn screening (NBS). In Mongolia, a regional screening program for CH was launched in 2000, which was supported by the International Atomic Energy Agency (IAEA) for the Asia Pacific Region. In our present study, a total of 23,002 newborns from nine districts in Ulaanbaatar were screened between 2012 and 2020, by the measurement of the thyroid-stimulating hormone (TSH) from dried blood spots, sampled 24 to 72 h after birth. The level of TSH was measured by the DELFIA assay. The overall CH prevalence confirmed at birth was 1/2091. The female-to-male ratio for CH cases was 1.8:1. The majority of patients were asymptomatic (72.7% of CH cases); umbilical hernia and cold or mottled skin were reported symptoms in patients with CH (27.3%). Thyroid dysgenesis (hypoplasia and agenesis) was the most common etiology, with a total of nine cases (81.8%) out of the eleven patients. The lapse between the birth date and the initiation of L-thyroxine treatment in CH-positive children was lower than 15 days in 63.64% of cases or 15 to 30 days in 36.36% of children. Further research is required to expand the screening coverage for CH in Mongolia.


2017 ◽  
Vol 5 (6) ◽  
pp. 708-713
Author(s):  
Ivanka Karagjozova ◽  
Suncica Petrovska ◽  
Slobodan Nikolic ◽  
Vesela Maleska-Ivanovska ◽  
Ljubica Georgievska-Ismail

BACKGROUND: The use of a 12-lead electrocardiogram (ECG) in the screening of young athletes still has some controversies regarding the cost-benefit of the procedure.AIM: We wanted to identify types and frequency of ECG changes in athletes in the Republic of Macedonia as well as its relation to age, gender, duration, frequency and type of sports.METHODS: The study population included 256 trained amateur athletes who were prospectively examined.RESULTS: The 12-lead ECG patterns were considered normal in 19.9% of athletes, with common training-related changes found in 48.8%, while abnormal and borderline ECG changes were present in 6.6% and 24.6% of athletes respectively. ECG changes were more frequent in males than in females without significant difference regarding the age of athletes. There was a significant correlation between more pronounced ECG changes and longer duration of sports engagement, higher duration of sports activity and type of sport practised.CONCLUSION: The prevalence of abnormal ECG patterns in athletes in RM which could indicate structural cardiac disease and greater risk of sudden cardiac death exist in a proportion that should implicate mandatory 12-lead ECG in the pre-participation screening program and further on the regular annual basis.


2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.


2014 ◽  
Vol 174 (4) ◽  
pp. 443-448 ◽  
Author(s):  
Mirjana Kocova ◽  
Violeta Anastasovska ◽  
Elena Sukarova-Angelovska ◽  
Milica Tanaskoska ◽  
Elizabeta Taseva

PEDIATRICS ◽  
1983 ◽  
Vol 72 (2) ◽  
pp. 263-264
Author(s):  
Howard W. Kilbride ◽  
Robert J. Lull ◽  
Heinz G. Lehman

Although the New England Regional Screening Program report1 indicates that human error is the most likely cause of failure to detect congenital hypothyroidism in infants, our experience suggests that compensated hypothyroidism might be missed in some newborns unless screening includes a thyroid-stimulating hormone (TSH) assay and a thyroxine (T4) concentration. In the past 2 years, we have diagnosed congenital hypothyroidism in three infants. In at least one of these infants, the disease would not have been identified by T4 concentration screening alone.


PEDIATRICS ◽  
1985 ◽  
Vol 76 (5) ◽  
pp. 734-740
Author(s):  
Stephen H. LaFranchi ◽  
Cheryl E. Hanna ◽  
Patricia L. Krainz ◽  
Michael R. Skeels ◽  
Richard S. Miyahira ◽  
...  

To determine the benefit of collecting two routine specimens to test for congenital hypothyroidism, we examined the results of our newborn screening program during the last 9.5 years. The Northwest Regional Screening Program (NWRSP) performs a primary thyroxine test with thyroid-stimulating hormone determinations on the lowest 10% of dried blood filter paper specimens. An initial specimen is obtained in the newborn period, and a routine second specimen is collected at approximately 4 to 6 weeks of age in all infants born in Oregon and 25% of infants born in Idaho, Montana, Alaska, and Nevada. Between May 1975 and October 1984, 182 infants with primary hypothyroidism were detected from 811,917 infants screened, a prevalence rate of 1:4,461. The routine second specimen led to the diagnosis of 19 infants of 484,604 infants screened, a detection rate of 1:25,505. When infants detected by the second screen were compared with those detected by the first screen, they had higher thyroxine and lower thyroidstimulating hormone concentrations on filter paper and serum specimens. When thyroid scanning was used, all but one infant detected by the second screen had some residual thyroid tissue, whereas 35% of infants detected by the first screen had thyroid aplasia. Skeletal maturation was more likely to be normal in infants detected by the second screen. These infants appear to have milder hypothyroidism due to a later age of onset or slower evolution of thyroid failure. At a cost of $31,881 per infant detected by the second screen, the NWRSP found it cost-effective to obtain a routine second specimen.


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