• Annals of Pediatric Endocrinology and Metabolism
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• v.23 no.4
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• pp.169-175
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• 2018

Thyroid dyshormonogenesis is characterized by impairment in one of the several stages of thyroid hormone synthesis and accounts for 10%-15% of congenital hypothyroidism (CH). Seven genes are known to be associated with thyroid dyshormonogenesis: SLC5A5 (NIS), SCL26A4 (PDS), TG, TPO, DUOX2, DUOXA2, and IYD (DHEAL1). Depending on the underlying mechanism, CH can be permanent or transient. Inheritance is usually autosomal recessive, but there are also cases of autosomal dominant inheritance. In this review, we describe the molecular basis, clinical presentation, and genetic diagnosis of CH due to thyroid dyshormonogenesis, with an emphasis on the benefits of targeted exome sequencing as an updated diagnostic approach.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.9-15
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• 2010

Congenital hypothyroidism (CH) is detected at a rate of 1 in 3,000 to 4,000 live births, making it the most common congenital endocrine disorder worldwide. CH is most commonly caused by defects in thyroid development leading to thyroid dysgenesis or dyshormonogenesis. Congenital hypothyroidism is usually sporadic, but up to 2% of cases of thyroid dysgenesis are familial, and CH caused by organification defects is often inherited in a recessive manner. The candidate genes associated with this genetically heterogeneous disorder fall into two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSHR gene in nonsyndromic CH, and Gsa and the thyroid transcription factor (TTF-1, TTF-2, and Pax-8) genes, which are associated with different complex syndromes that include CH. Among genes associated with dyshormonogenesis, the TPO and TG genes were initially described, and more recently PDS, NIS, and THOX2 gene defects. There is some evidence for a third group of CH conditions associated with iodothyronine transporter defects that are, in turn, associated with severe neurological sequelae.

• The Korean Journal of Nuclear Medicine
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• v.1 no.1
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• pp.67-78
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• 1967

Over the past 6 years, from May 1960 to June 1966, 1,716 patients with various diseases of thyroid were examined and thyroid function tests with $^{131}I$ were done. Among them, 545 patients with hyperthyroidism were treated with $^{131}I$. A summary of the clinical data of the $^{131}I$-thyroid function tests and the therapeutic results of $^{131}I$ were presented and discussed. 1. The patients examined consisted of; 596 cases(34.7%) with toxic diffuse goiter, 412 cases(24.0%) with non-toxic nodular goiter, 278 cases(16.2%) with euthyroidism, 236 cases(13.8%) with non-toxic diffuse goiter, 89 cases(5.2%) with hypothyroidism, 53 cases(3.1%) with toxic nodular goiter, 32 cases(1.9%) with thyroiditis and 20 cases(1.2%) with dyshormonogenesis. 2. There were 218(12.7%) male patients and 1,498(87.3%) female patients, showing a ratio of 1:6.9. female predominantly. 3. The majority of patients(79.6%) were in the 3rd through 5th decades of their lives showing the peak in the 4th decades(35.9%). 4. The diagnostic values and normal ranges of $^{131}I$ uptake test, 48 hour serum activity, $T_3$ red blood cell uptake and $PB^{131}I$ conversion ratio were discussed. 5. An attention was given to dyshormonogenesis, a qualitative hypothyroidism, due to its characteristic findings of clinical and $^{131}I$ thyroid function tests, and its pathogenesis was briefly reviewed. 6. Among 545 patients with hyperthyroidism treated with $^{131}I$, 68.3% was cured after single. therapeutic dose and another 24.0% was cured after second dose. 7. The complications of $^{131}I$ therapy were discussed in some details and myxedema had developed. in 3.9% of our cases. No thyroid cancer was found after $^{131}I$ therapy.

• Clinical and Experimental Pediatrics
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• v.61 no.7
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• pp.221-225
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• 2018

Purpose: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. Methods: The medical records of Korean CH patients (n=45) were reviewed. The FH was examined and target height (TH) was calculated based on mid-parental height. The FH z score (FHZ) and TH z score (THZ) were computed using the 2007 Korean National Growth Chart. The FHZ and THZ were compared with a Student t test. The impact of the etiology of CH (athyreosis, dyshormonogenesis, ectopic thyoid, hypoplastic thyroid), initial serum thyroid stimulating hormone (TSH) level, initial free thyroxine (T4) level, and time of therapy initiation based on FH was assessed. Results: The mean FHZ was $0.10{\pm}1.01$ for male patients and $-0.11{\pm}1.09$ for female patients. There were no significant differences between FHZ and THZ for both female (P=0.356) and male patients (P=0.237). No significant relationship was found between FH and the etiology of CH, initial TSH level, initial free T4 level, and the time of therapy initiation. Conclusion: Early intervention and satisfactory management do not appear to impede growth in Korean patients with CH. Thus, early detection and proper management of patients with CH detected by newborn screening program are necessary.