• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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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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• 제7권1호
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• pp.9-15
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• 2010

선천성 갑상샘 기능 저하증은 신생아 3,000명 내지 4,000명당 한 명꼴로 발생하며 선천성 내분비 질환 중 가장 흔한 것으로 알려져 있다. 본 질환은 갑상샘 발달 과정의 결함으로 인한 갑상샘 형성 부전 또는 호르몬 합성 장애로 인해 가장 흔히 발생한다. 이는 대부분 산발성으로 발생하나 갑상샘 형성 부전의 2%정도에서 가족성으로 발생하기도 하며 유기화 결함에 의한 갑상샘 기능 저하증은 열성으로 유전된다. 본 질환과 관련된 후보 유전자들은 갑상샘 형성 부전 군과 갑상샘 호르몬 합성 장애 군 등 크게 두 군으로 나뉜다. 갑상샘 형성 부전과 관련된 유전자는 비증후군성에 속하는 것으로 TSHR 유전자가 있고 여러 다른 복합적 기형을 동반한 증후군성에 속하는 것으로 Gsa 유전자 및 갑상샘 전사 인자 유전자(TTF-1, TTF-2, Pax-8) 등이 있다. 호르몬 합성장애와 관련된 것으로 TPO와 TG 유전자가 언급되었고 근래 PDS, NIS와 THOX2 유전자가 소개되었다. 또한 iodothyronine 이동 결함과 관련되어 심각한 신경학적 후유증을 동반할 수 있는 갑상샘 기능 저하증에 대한 유전적 근거가 제시되었다.

• 대한핵의학회지
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• 제1권1호
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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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• 제61권7호
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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.