Diagnostic spectrum of congenital hypothyroidism in Turkish children

Tamam, Müge; Adalet, İşık; Bakir, Barış; Türkmen, Cüneyt; Darendelıler, Feyza; Baş, Firdevs; Şanlı, Yasemin; Kuyumcu, Serkan

doi:10.1111/j.1442-200x.2008.02790.x

Cited by 26 publications

(37 citation statements)

References 15 publications

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“…Thyroid dysgenesis was found in 52.2% of the subjects and dyshormogenesis was found in 47.8%. Although the number of subjects with dyshormogenesis was higher than expected, it was compatible with the study of Tamam et al (6). The absence of consanguineous marriage in all patients with PCH with dyshormogenesis in our study suggests that factors other than Mendelian inheritance should be investigated in the etiology.…”

Section: Discussionsupporting

confidence: 79%

“…In the literature, the prevalence of transient PCH has been reported to range between 40.2% and 54% in studies related with PCH (5,6,16,18). In a study that showed the neonatal hypothyroidism screening results of 2008-2010 in our country, the prevalence of PCH was reported as 1/650, but the prevalence of permanent and transient PCH was not specified (17).…”

Section: Discussionmentioning

confidence: 99%

“…In addition, it is not possible to make an interpretation in terms of presence of maternal autoimmune thyroiditis as an underlying cause, because thyroid autoantiboodies were not measured in the babies and mothers. Studies have reported the prevalence of permanent hypothyroidism as 46-70% in subjects with PCH (5,6,16,18). The most common cause of permanent PCH (50-85%) is thyroid dysgenesis.…”

Section: Discussionmentioning

confidence: 99%

“…In cases of primary congenital hypothyroidism, thyroxine treatment is discontinued for 4-6 weeks after the age of three years and a diagnosis of permanent or transient PCH is made by detecting the underlying cause with investigations directed to the etiology. Thus, treatment is terminated confidently in subjects with a diagnosis of transient PCH and hereditary characteristics and prognosis of the subjects with a diagnosis of permanent PCH can be enlightened (5,6,14). By means of this differential diagnosis, unnecessary long-term follow-up and treatment is prevented in children with transient PCH and an appropriate way is specified for the regulation and monitoring of treatment in patients with permanent PCH.…”

Section: Introductionmentioning

confidence: 99%

“…The causes of transient PCH include iodine deficiency, prenatal-perinatal iodine load, antibodies inhibiting maternal thyroid-stimulating hormone (TSH) receptors that pass the placenta, exposure of the mother to radioiodine or antithyroid drugs, and transient organogenesis defects (THOX2 or DUOXA2 heterozygous mutations) (1)(2)(3)5). Although studies have reported different prevalences for transient PCH, it is about 30-50% (5,6). According to the general opinion, subjects with transient PCH should be treated until the age of 3 years, though there are cases where treatment can be terminated earlier because transient thyroid hormone failure is in question (2).…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Discussionsupporting

confidence: 79%