Screening for congenital hypothyroidism in Turkey

Yordam, Nurşen; Çalıkoğlu, Ali S.; Hatun, Şükrü; Kandemir, Nurgün; Oğuz, H.; Teziç, Tahsin; Ozalp, I

doi:10.1007/bf02079061

Cited by 33 publications

(32 citation statements)

References 13 publications

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“…Although iodine deficiency causes transient type hypothyroidism, it would be difficult to distinguish it from the permanent type during the screening period, since definitive diagnosis can only be made after the age of 3 years. 23 Since the time of screening for CH in our program was between 1-33 days, treatment allowed adequate growth and development in all confirmed babies. This was not possible in previously diagnosed cases in Lebanon, where most of the cases were detected after the age of 1 year and none before 3 months.…”

Section: Hypothyroidismmentioning

confidence: 93%

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

et al. 2003

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Background: Neonatal screening programs for common disorders like phenylketonuria, congenital hypothyroidism, and glucose-6-phosphate dehydrogenase (G6PD) deficiency are not fully established at the national level in Lebanon. Screening for the above disorders was carried out for newborns delivered at the American University of Beirut Medical Center over a period of five years. Subjects and Methods: Blood specimens collected 2-3 days after birth were applied to neonatal screening blood collection cards. A total of 9117 newborns were screened using phenylalanine, thyroid-stimulating hormone, and G6PD activity measurements on blood spots. Results: One case of phenylketonuria and another of hyperphenylalaninemia were detected. We also detected 5 cases of permanent type congenital hypothyroidism, giving an incidence of 5:9117 (1:1823). The age range at initiation of hormonal replacement therapy was 9-46 days. The overall incidence of G6PD was 106:9117 (1:86 or 1.16%), of which 84 had complete deficiency (1:109 or 0.92%), and 22 with intermediate activity. Conclusion:The incidence of these disorders found in this Lebanese sub-population warrants consideration of a comprehensive nationwide neonatal screening program.

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Section: Hypothyroidismmentioning

confidence: 93%

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

et al. 2003

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“…Therefore, screening programs were initiated throughout the world with the objective of early diagnosis (2,(10)(11)(12). In our country, PCH has been included in the screening program by the Ministry of Health since December 2006 (13). Investigations directed to the underlying cause are postponed until the age of three years when central nervous system myelinization is completed to a great extent, because treatment is usually initiated without investigations directed to the etiologic cause in cases of primary congenital hypothyroidism (1,2).…”

Section: Introductionmentioning

confidence: 99%

Etiological evaluation of primary congenital hypothyroidism cases

et al. 2017

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Aim: Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Material and Methods:Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. Results:The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/ kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Conclusions:Transient primary congenital hypothyroidism is more frequent than expected and found often in males in the primary congenital hypothyroidism cases, started thyroxin therapy in neonatal period. While fT4, thyroid-stimulating hormone, Tg levels at diagnosis do not predict transient/permenant primary congenital hypothyroidism, thyroxin dose before the therapy cessation at the age of 3 may make the distinction between transient/permenant primary congenital hypothyroidism. (Turk Pediatri Ars 2017; 52: 85-91)

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“…7,17,18 The causes of the different prevalence of the disease in different parts of the world can be due to the different contraceptive criteria for the diagnosis of hypothyroidism, use of T4 or TSH to screen, iodine deficiency in some parts of the world, the percentage of different marriages and ethnic and racial differences. [19][20][21][22][23][24][25] In this study, the rate of recall was 5600 cases or 35 cases per 1000 (3.5%) infants. In the Siami's study (25), the recall rate was 6.1%.…”

Section: Discussionmentioning

confidence: 97%

Screening for congenital hypothyroidism: results of screening 5600 Ardabil province infants

et al. 2017

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Background: Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency which varies more by geographic areas and affecting 1 in 3000 to 4000 of newborns. The aim of this study was to investigate the screening of CH results in in Ardabil Province, Iran.Methods: This descriptive study was conducted on 158624 neonates during 2007 to 2013 which were screened for CH by measuring serum TSH obtained by heel prick. Of all neonates 5600 neonates who had a TSH ≥5 mU/L were recalled for measurement of serum T4 and thyroid stimulating hormone (TSH) in venous samples. Collected data analyzed by statistical methods in SPSS.16. Results: The incidence of congenital hypothyroidism was found to be 1:916 with a female to male ratio of 0.76:1. In 220 patients with CH, 40 patients were diagnosed with permanent CH (18.2%) and 140 with transient hypothyroidism (81.8%). The frequency of transient hypothyroidism was 4.5 times more than permanent hypothyroidism and was significant. In newborns with permanent hypothyroidism the average of TSH levels in the first and second times was 37.15 and 31.56 μIU/ml, respectively.Conclusions: Results showed that the prevalence of CH in Ardabil province was significantly high and comparing the results of this study with other studies in other countries suggests the proper efficacy of congenital hypothyroidism screening in Ardabil's health system. Also we should be attention to other environmental factors especially during pregnancy which affect the performance of the mother’s thyroid.

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Screening for congenital hypothyroidism in Turkey

Abstract: The incidence of CH is notably higher in Turkey than reported in most other countries. Iodine deficiency and/or dyshormonogenesis might contribute to this high incidence. This result emphasizes the necessity of a nationwide screening programme.

Cited by 33 publications

References 13 publications

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

A Neonatal Screening in Lebanon: Results of Five Years’ Experience

Etiological evaluation of primary congenital hypothyroidism cases

Screening for congenital hypothyroidism: results of screening 5600 Ardabil province infants

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