• 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.

• Asian Pacific Journal of Cancer Prevention
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• 제17권10호
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• pp.4577-4581
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• 2016

Objective: The aim of this study was to assess thyroid function in breast cancer patients exposed to therapeutic external beam radiation. The focus was on possible progressive changes and any relationships between the incidence of primary hypothyroidism, the time required to become hypothyroid, and factors such as chemotherapy, hormonotherapy and immunotherapy. Materials and Methods: Seventy females undergoing 3D conformal and IMRT radiation therapy for breast cancers were enrolled in a non-randomized prospective study. The patients was divided into two groups: those after mastectomy or breast conserving surgery (BCS) were irradiated to a scar of the chest wall/breast and the ipsilateral supraclavicular and the axillary areas (supraclavicular radiotherapy group - SC-RT group - 32 patients) and the control group receiving adjuvant chest wall/breast RT only (BCT group - 38 patients).The total doses were 50.0 to 70 Gy in 5 to 7 weeks. The median follow-up term was 24 months (range, 1-40 months). Thyroid function was evaluated by measuring thyroid stimulating hormone (TSH), free thyroxine (fT4), and free triiodothyronine (fT3) levels. The minimum, maximum and mean thyroid gland doses for 20 Gy (V20) were calculated for all patients. Results: Statistically significant results were obtained for the SC-RT group. Two yearsa fter the end of RT the chance of an event was increased in 6% of the population (p=0.009) in the SC-RT group. In the BCT group no significance was noted. No statistically significant differences were found for V20, chemio-, immunotherapy and hormonotherapy or Ki67 values (p=0.12). No significant results were obtained for development of hypothyroidism and clinical factors (age, thyroid volume, treatment modalities). Conclusion: Radiotherapy is associated with a higher incidence of thyroid toxicity in breast cancer patients. Routine thyroid function monitoring should be recommended in such cases.

• 대한핵의학회지
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• 제18권1호
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• pp.19-24
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• 1984

Clinical measurement of thyroid autoantibodies in sera of some thyroid disorders have been widely applied since about twenty years ago. We investigated the incidence and titers of both anti microsomal and antithyroglobulin antibodies in forty eight cases with controls and one hundred and thirty three patients with some form of thyroid disorders. The results were as follows; 1) In controls, antimicrosomal antibodies were positive in 2% but anti thyroglobulin antibodies were all negative. 2) In a series of one hundred and thirty three patients with thyroid disease, anti microsomal antibodies were positive in 44% but antithyroglobulin antibodies were positive in only 15%. 3) The rate disclosing the positive results of antimicrosomal antibodies were 71 % in Hashmoto's disease, 60% in Graves' disease, and 38% in primary hypothroidism, respectively. On the other hand, the positive results of antithyroglobulin antibodies showed 21 % in Graves' disease, 19% in primary hypothyroidism, and 18% in Hashmoto's disease, respectively. Though there were relatively high rate of both antimicrosomal and anti thyroglobulin antibodies in patients with nodular goiter, they were only seven cases in our series. 4) The rate with the extremely high titers of antimicrosomal and antithyroglobulin antibodies$(>1:160^2)$ was 83% and 67% in Hashmoto's disease, 50% and 67% in primary hypothyroidism, and 41% and 18% in Graves' disease. Accordingly, the thyroid autoantibodies were commonly found higher positive rate in patients with Hashmoto's disease, primary hypothyroidism, and Graves' disease. Among these disorders, the extremely high positive rate of the thyroid autoantibodies was found in patients with Hashmoto's disease.

• 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.

• Journal of Nutrition and Health
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• 제45권3호
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• pp.218-228
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• 2012

The prevalence rate of thyroid dysfunction (hypothyroidism and hyperthyroidism) has increased within the Korean population and seems to be affected by iodine dietary habits. Some studies reported that the prevalence of thyroid dysfunction increase both in the area of iodine deficiency and excess. In this study, we tried to discover the difference in iodine intake, anthropometric measurements, and blood parameters between male subjects with or without subclinical thyroid dysfunction. A total of 5,249 subjects (Euthyroid: 4706, SubHypo: 454, SubHyper: 89) were used in this study. There were no significant differences in BMI, body fat, visceral fat, waist circumference, SBP, DBP, total cholesterol, HDL-cholesterol, LDL-cholesterol, TG, fasting serum glucose, HbA1c, alcohol intake, however significant differences were noticed in both age and smoking status. Through a food frequency questionnaire (FFQ), iodine intake per day was estimated. The average iodine intake was similar (SubHypo $392.9{\pm}279.0{\mu}g$, Euthyroid $376.5{\pm}281.7{\mu}g$, SubHyper $357.3{\pm}253.8 {\mu}g$) among groups. The main source of iodine intake was eggs (52.8%, 54.2%, 52.4%) followed by milk (16.3%, 15.8%, 17.8%), then sea mustard & sea tangle (12.4%, 11.9%, 11.6%). The prevalence of subclinical hypothyroidism and subclinical hyperthyroidism was higher in subjects whose intake was higher than the recommended nutrient intake (RNI). These results suggest that the excess consumption of iodine intake may act as one of the risk factors regarding thyroid dysfunction in Korea. Therefore, an adequate amount of iodine intake is necessary in order to prevent subclinical thyroid dysfunction and clinical thyroid dysfunction.

• 대한한방내과학회지
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• 제18권2호
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• pp.305-331
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• 1997

So far we oriental medical doctors have referred to Shin(腎) as endocrine system, especially suprarenal gland, sexual gland and autonomic nervous system, thyroid etc. as well as kidney. But the sight on thyroid is weak and the relationship with Shin(腎) hasn't been suggested clearly. The purpose of this study is to find out the relationship between Shin(腎) with thyroid. The following are the results. 1. Ki Gi(氣機) of Shin(腎) is similar to the fuction of thyroid in that they are the base of human metabolism, influencing all the metabolism of human tissue. 2. Shin Yang(腎陽) and thyroid hormone are almost identical in that they are the base of Yang Gi(陽氣), the former as source of heat energy, the latter as energy hormone. 3. Shin(腎) and thyroid hormone are almost the same in that they activate growth of human body. 4. Ki Gi(氣機) of Shin(腎) such as Ju Gol(主骨), Saeng Su(生髓), Tong uh Noi(通於腦) is similar to the effects of thyroid hormone on bones, central nervous system and hair 5. The symptoms of deficiency of Shin Eum(腎陰虛) are almost identical with those of hyperthyroidism, so the process of Yang Hwa Gi(陽化氣) caused by exuberance of Yang due to deficiency of Shin Eum(腎陰虛陽亢) is similar to excessive metabolism caused by hyperthyroidism. 6. The process of Eum Seong Hyung(陰成形) caused by preponderance of Eum due to deficiency of Shin Yang(腎陽虛陰盛) is similar to the lowering of metabolism caused by hypothyroidism. 7. Deficiency of Shin Eum(腎陰虛) is similar to hyperthyroidism, deficiency of Shin Yang(腎陽虛) to hypothyroidism. But there are major difference in edema and the fuction of intestine. To conclude, Ki Gi(氣機) of Shin is similar to the function of throid in many respects. I hope that there will be further studies on the relationship beteen thyroid malfuction with deficiency of Shin Yang(腎陽虛) or of Shin Eum(腎陰虛) in the future.

• Genomics & Informatics
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• 제19권3호
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• pp.29.1-29.10
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• 2021

In our previous studies, we have demonstrated the association of certain variants of the thyroid-stimulating hormone receptor (TSHR), thyroid peroxidase (TPO), and thyroglobulin (TG) genes with congenital hypothyroidism. Herein, we explored the mechanistic basis for this association using different in silico tools. The mRNA 3'-untranslated region (3'-UTR) plays key roles in gene expression at the post-transcriptional level. In TSHR variants (rs2268477, rs7144481, and rs17630128), the binding affinity of microRNAs (miRs) (hsa-miR-154-5p, hsa-miR-376a-2-5p, hsa-miR-3935, hsa-miR-4280, and hsa-miR-6858-3p) to the 3'-UTR is disrupted, affecting post-transcriptional gene regulation. TPO and TG are the two key proteins necessary for the biosynthesis of thyroid hormones in the presence of iodide and H₂O₂. Reduced stability of these proteins leads to aberrant biosynthesis of thyroid hormones. Compared to the wild-type TPO protein, the p.S398T variant was found to exhibit less stability and significant rearrangements of intra-atomic bonds affecting the stoichiometry and substrate binding (binding energies, ΔG of wild-type vs. mutant: -15 vs. -13.8 kcal/mol; and dissociation constant, K_d of wild-type vs. mutant: 7.2E^-12 vs. 7.0E^-11 M). The missense mutations p.G653D and p.R1999W on the TG protein showed altered ΔG(0.24 kcal/mol and 0.79 kcal/mol, respectively). In conclusion, an in silico analysis of TSHR genetic variants in the 3'-UTR showed that they alter the binding affinities of different miRs. The TPO protein structure and mutant protein complex (p.S398T) are less stable, with potentially deleterious effects. A structural and energy analysis showed that TG mutations (p.G653D and p.R1999W) reduce the stability of the TG protein and affect its structure-functional relationship.

• Journal of Nutrition and Health
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• 제55권2호
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• pp.250-262
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• 2022

Purpose: Elevated iodine intake is related to a higher prevalence of subclinical hypothyroidism (SCH). We investigated the short-term effect of dietary iodine restriction on thyroid function in patients with SCH with high iodine intakes. Methods: The iodine levels in 64 SCH patients with serum TSH levels from 4.0 to 10.0 mIU/L and normal serum fT4 levels (n = 64) were assessed using 24-hour urine iodine test results and iodine intake levels calculated using a semi-quantitative food frequency questionnaire. Dietary iodine restriction was not recommended for patients with an iodine intake in the normal range (group A, n = 13), but seaweed restriction was recommended for patients with high iodine intakes (group B, n = 33). Thyroid functions and iodine levels were rechecked after three months. Another eighteen patients were prescribed thyroid hormone replacement therapy according to clinical criteria. Results: Median baseline iodine intake for the 64 patients was 290.61 ㎍/day, and median 24-hour urine iodine was 33.65 µmol/g of creatinine. The major source of dietary iodine was seaweed, which accounted for 72.2% of median baseline intake. Urine iodine and calculated iodine intake levels were positively correlated with serum TSH levels (p < 0.001 and p = 0.027, respectively), and calculated iodine intakes were significantly correlated with urine iodine levels (p = 0.001). In group B, iodine restriction significantly decreased urine iodine (p = 0.042) and TSH levels (p = 0.004), and conversion to euthyroid status was achieved in 16 of the 33 patients (48.5%). Conclusion: Iodine intake and urine iodine levels are correlated with thyroid function in SCH patients, and dietary iodine restriction can aid functional thyroid recovery in patients with elevated iodine intakes.

• 한국임상수의학회지
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• 제39권5호
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• pp.235-239
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• 2022

A 10-year-old neutered male Siberian Husky presented with paraparesis and severe lethargy. On physical examination, the patient was unable to weight-bear and walk and exhibited significant muscle mass loss in both hindlimbs and generalized truncal alopecia with a dull coat of hair. On neurological examination, cranial lumbar vertebral pain, hind limb cross-extensor reflex, delayed hindlimb postural reaction, upper motor neuron bladder dysfunction, and total absence of cutaneous trunci reflex were identified. Computed tomography revealed diffuse idiopathic skeletal hyperostosis and spondylosis deformans of the cervical and thoracolumbar vertebrae. In addition, a generalized decrease in bone mineral density of the vertebrae was identified. Magnetic resonance imaging showed hyperplasia of the epidural fat compressing the spinal cord in the thoracolumbar region and concurrent mild multiple intervertebral disc herniations. No specific findings were observed in cerebrospinal fluid analysis. Blood analysis of thyroid function revealed decreased total T4 and free T4 levels, and increased TSH levels. The patient was tentatively diagnosed with spinal epidural lipomatosis (SEL) secondary to hypothyroidism. The patient was treated with levothyroxine, firocoxib, and gabapentin. Clinical signs gradually improved, and the patient showed normal ambulation 40 days after treatment initiation. SEL is extremely rare in dogs. To the best of our knowledge, this is the first case report of SEL secondary to hypothyroidism that was treated conservatively. Secondary SEL can be sufficiently managed by treating the underlying cause, if possible.

• Journal of Yeungnam Medical Science
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• 제40권1호
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• pp.30-36
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• 2023

Background: Congenital hypothyroidism (CH) is the leading cause of preventable physical and intellectual disabilities. This study aimed to assess the incidence and clinical characteristics of CH in newborns. Methods: We retrospectively reviewed the medical records of all newborns delivered at the Pusan National University Hospital between January 2011 and March 2021. The incidence of CH was compared according to gestational age, birth weight, and small for gestational age (SGA). The patients aged ≥3 years who could not maintain normal thyroid function and required levothyroxine treatment were diagnosed with permanent CH. Logistic regression analysis was performed to compare CH risks. Results: Of 3,722 newborns, 40 were diagnosed with CH (1.07%). Gestational age and birth weight were significantly associated with CH incidence. The odds ratios (ORs) of CH in infants delivered at 32-37, 28-31, and <28 weeks were 2.568 (95% confidence interval [CI], 1.141-5.778), 5.917 (95% CI, 2.264-15.464), and 7.441 (95% CI, 2.617-21.159) times higher, respectively, than those delivered at term. The ORs of CH in infants weighing 1,500-2,499 g, 1,000-1,499 g, and <1,000 g were 4.664 (95% CI, 1.928-11.279), 11.076 (95% CI, 4.089-29.999), and 12.544 (95% CI, 4.350-36.176) times greater, respectively, than those in infants weighing ≥2,500 g. The OR of CH was 6.795 (95% CI, 3.553-13.692) times greater in SGA than in non-SGA infants. Conclusion: The CH incidence in South Korea has increased significantly compared with that in the past. Gestational age, birth weight, and SGA were significantly associated with CH incidence.