The Comparison of Thyroxine versus Thyroxine plus Oral Iodine in the Treatment of Congenital Hypothyroidism due to Iodine Deficiency

Kurtoğlu, Selim; Köroğlu, Şenol; Baştuğ, Osman; Daar, Ghaniya; Yıkılmaz, Ali; Elmalı, Ferhan

doi:10.1159/000358878

Cited by 6 publications

(7 citation statements)

References 33 publications

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“…Iodine deficiency is still the major cause of neonate hypothyroidism worldwide (15,16), and the prevalence was reported to be 2.09% in Guangxi Zhuang Autonomous Region (17). Apart from iodine deficiency, the sporadic CH cases can be caused by mutations in a variety of genes including SLC26A4 (13,18).…”

Section: Discussionmentioning

confidence: 99%

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Zheng

Zhang

et al. 2016

Arch. Endocrinol. Metab.

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Objective: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods: Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by nextgeneration sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results: Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions: The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH. Arch Endocrinol Metab. 2016;60(4):323-7

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Section: Discussionmentioning

confidence: 99%

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Zheng

Zhang

et al. 2016

Arch. Endocrinol. Metab.

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“…Environmental circumstances, such as iodine deficiency, increa-se the frequency of primary CHT 5,6 .…”

Section: Introductionmentioning

confidence: 99%

Oral and systemic manifestations of congenital hypothyroidism in children. A case report.

2015

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Hypothyroidism is the most common thyroid disorder. It may be congenital if the thyroid gland does not develop properly. A female predominance is characteristic. Hypothyroidism is the most common congenital pediatric disease and its first signs and early symptoms can be detected with neonatal screening. Some of the oral manifestations of hypothyroidism are known to be: glossitis, micrognathia, macroglossia, macroquelia, anterior open bite, enamel hypoplasia, delayed tooth eruption, and crowding. This paper briefly describes the systemic and oral characteristics of congenital hypothyroidism in a patient being treated at a dental practice. The patient had early childhood caries and delayed tooth eruption. There are no cases of craniosynostosis related to the primary pathology, which if left untreated, increases the cranial defect. Early diagnosis reduces the clinical manifestations of the disease. Delayed tooth eruption will become a growing problem if the patient does not receive timely treatment and monitoring.

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“…Thus, it is vital that neonates diagnosed with hypothyroidism are treated fast and adequately to become euthyroid. In this issue of Hormone Research in Paediatrics , Kurtoğlu and colleagues from Kayseri, Turkey, report an interesting study where an iodine supplement was added to the obligatory levothyroxine replacement therapy of neonates diagnosed by screening to suffer from hypothyroidism [2]. …”

mentioning

confidence: 99%

“…As a consequence, a neonatal screening program for hypothyroidism was initiated in Turkey in 2006 [2]. Moreover, considerable parts of the Turkish population had previously been affected by iodine insufficiency, and a program of salt iodisation was introduced in the late 1990s [9].…”

mentioning

confidence: 99%

“…Kurtoğlu et al [2] hypothesised that some of the neonates diagnosed with hypothyroidism by screening might have developed it because of low maternal iodine intake, and they performed a randomised study comparing therapy of hypothyroid neonates with levothyroxine alone versus levothyroxine plus iodine. The neonates included had high serum TSH, low fT 4 and a spot urine iodine concentration <100 µg/l.…”

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confidence: 99%

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Keep an Eye on Iodine and the Thyroid and Save the Brain

Laurberg

Andersen

2014

Horm Res Paediatr

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The Comparison of Thyroxine versus Thyroxine plus Oral Iodine in the Treatment of Congenital Hypothyroidism due to Iodine Deficiency

Cited by 6 publications

References 33 publications

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

Oral and systemic manifestations of congenital hypothyroidism in children. A case report.

Keep an Eye on Iodine and the Thyroid and Save the Brain

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