1.R243W mutation in thyroid hormone resistance syndrome beta: A case report
Jia Cheng Ong ; W Mohd Hilmi W Omar ; Tuan Salwani Tuan Ismail ; Krishna Chatterjee ; Suhaimi Hussain
Journal of the ASEAN Federation of Endocrine Societies 2024;39(2):81-85
A three-year-old female with a history of recurrent tonsillitis was investigated for failure to thrive and global developmental delay. Clinically, she had a triangular face with low-set ears and intermittent tachycardia. She had growth failure with her weight under the third centile while her height was within normal limits. Other systemic examinations were unremarkable. The presence of an elevated free T4 (FT4) with an inappropriately high thyroid stimulating hormone (TSH) in this patient raised the clinical suspicion of Thyroid Hormone Resistance Syndrome. DNA sequencing confirmed the diagnosis, which showed R243W gene mutation in Thyroid Hormone Receptor-Beta1 (THRB1).
Receptors, Thyroid Hormone
;
Thyroid Hormone Resistance Syndrome
;
Goiter
2.Surgical management of goiter with intrathoracic extension at the Philippine General Hospital Department of Otolaryngology Head and Neck Surgery
Kevin Michael L. Mendoza ; Daryl Anne D. Madrid
Philippine Journal of Otolaryngology Head and Neck Surgery 2023;38(2):35-41
Objective:
To describe the demographic and clinical characteristics of patients diagnosed with intrathoracic thyroid masses managed surgically in our institution, determine associated factors affecting eventual operative approaches for these patients, and assess postoperative outcomes and complications associated with surgical intervention.
Methods:
Design: Retrospective descriptive case series.
Setting:Tertiary National University Hospital.
Participants: 24 patients.
Results:
The mean age of patients diagnosed with intrathoracic goiters was 55.71 years old, with a 1:1.4 male to female ratio; with most having an intrathoracic extent of Huins Grade 1 (67%) compared to others having Huins Grade 2-3. Majority of patients pre-operatively had a Fine Needle Aspiration (FNA) Bethesda Thyroid Nodule Classification of Category II (benign); 79% of total patients underwent excision of thyroid mass utilizing a transcervical approach alone. As Intrathoracic Extension (ITE) grade increased, additional transthoracic approaches were performed; duration of operation, average estimated blood loss, length of hospital stay was also noted to increase. Majority of post operative surgical histopathology results revealed malignant thyroid masses, in contrast to pre-operative FNA. Post-operative transient hypocalcemia was the most reported immediate complication.
Conclusions
Management of intrathoracic goiter is often multidisciplinary. Referral to the thoracic vascular service is warranted for access to the thoracic inlet. Classification by grade of intrathoracic goiters is helpful to determine the most appropriate operative approach and may
be predictive of intraoperative and postoperative outcomes. Postoperative histopathology across all ITE grades mostly yield malignant results; hence, preoperative FNA results should be used with caution.
Thyroid Diseases
;
Thyroid Neoplasms
;
Goiter
;
Thyroid Gland
;
General Surgery
;
Thyroidectomy
;
Sternum
;
Manubrium
3.Clinical application of retrograde thyroidectomy from top to bottom in retrosternal thyroid surgery.
Jing WU ; Xiaohong LI ; Changyu YAO ; Daming WANG ; Yehai LIU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2023;37(12):1011-1018
Objective:To investigate the value of retrograde thyroidectomy from top to bottom in the operation of retrosternal thyroid surgery. Methods:Retrospective analysis was performed on the cases of retrosternal goiter excised by our surgeons from January 2017 to June 2022,the technical points, feasibility and advantages of the operation were summarized. Results:A total of 15 cases of retrosternal goiter treated by retrograde thyroidectomy were collected, including 5 cases of type Ⅰ retrosternal goiter and 10 cases of type Ⅱ retrosternal goiter.The postoperative pathology was benign. The surgical time is 40-60 minutes for unilateral retrosternal goiter and 70-90 minutes for bilateral goiter. All patients were discharged normally within 7 days after operation, and no operative complications were observed such as bleeding, hoarseness or hypoparathyroidism. Conclusion:This surgical excision method of thyroid is suitable for the type Ⅰ and type Ⅱ retrosternal goiter surgery, which can avoid the difficulties in exposing and separating the the inferior thyroid behind the sternum in conventional surgical method, speed up the operation and reduced the difficulty of operation, and has certain promotion value in clinic.
Humans
;
Thyroidectomy/methods*
;
Retrospective Studies
;
Goiter, Substernal/pathology*
;
Hypoparathyroidism/surgery*
4.Mechanism Study on Chinese Medicine in Treatment of Nodular Goiter.
Chang-Lin WANG ; Ming-Zhou GAO ; Xiang-Ju GAO ; Xiang-Yu MU ; Jie-Qiong WANG ; Dong-Mei GAO ; Ming-Qi QIAO
Chinese journal of integrative medicine 2023;29(6):566-576
Nodular goiter has become increasingly prevalent in recent years. Clinically, there has been a burgeoning interest in nodular goiter due to the risk of progression to thyroid cancer. This review aims to provide a comprehensive summary of the mechanisms underlying the therapeutic effect of Chinese medicine (CM) in nodular goiter. Articles were systematically retrieved from databases, including PubMed, Web of Science and China National Knowledge Infrastructure. New evidence showed that CM exhibited multi-pathway and multi-target characteristics in the treatment of nodular goiter, involving hypothalamus-pituitary-thyroid axis, oxidative stress, blood rheology, cell proliferation, apoptosis, and autophagy, especially inhibition of cell proliferation and promotion of cell apoptosis, involving multiple signal pathways and a variety of cytokines. This review provides a scientific basis for the therapeutic use of CM against nodular goiter. Nonetheless, future studies are warranted to identify more regulatory genes and pathways to provide new approaches for the treatment of nodular goiter.
Humans
;
Goiter, Nodular/metabolism*
;
Medicine, Chinese Traditional
;
Thyroid Neoplasms
;
Apoptosis
;
China
5.SHENG Can-ruo's experience in treatment of goiter with integrated acupuncture and herbal medication.
Yan SHENG ; Hui-Xin YAN ; Yi-Fang ZHOU ; Can-Ruo SHENG
Chinese Acupuncture & Moxibustion 2022;42(7):811-814
The paper introduces professor SHENG Can-ruo's experience in treatment of goiter with the combination of acupuncture and herbal medication. Professor SHENG believes that this disease is mostly related with emotional injury, improper diet and geographical and climatic factors, as well as body constitution. Qi stagnation, phlegm retention, blood stagnation and interaction of phlegm and stasis are the essential pathogenesis of goiter. Either acupuncture or herbal medication should focus on "phlegm and stasis" in treatment. Besides, the theory of western medicine should also be considered. In western medicine, thyroid enlargement is classified into Ⅰ, Ⅱ and Ⅲ degrees of struma, thus, the pathogenesis and treatment with Chinese medicine should be adjusted accordingly. The created "four throat points", combined with acupuncture at distal points, relieve the local masses. The basic herbal formula is prepared and the couplet medicines are modified based on syndrome differentiation. The integrated acupuncture and herbal medication regulates emotions and provides a comprehensive treatment for goiter.
Acupuncture Therapy
;
Combined Modality Therapy
;
Goiter/drug therapy*
;
Humans
;
Medicine, East Asian Traditional
;
Neck
6.Analysis on specific effect of acupoints at the upper arms in treatment of scrofula and goiter.
Shan-Ze WANG ; Chao YANG ; Wei-Mei ZENG ; Teng-Hui ZHONG ; Xu-Dong ZHANG ; Jia-Xin QIN ; Lu CHENG ; Shu-Qi MI ; Ji-Ping ZHAO
Chinese Acupuncture & Moxibustion 2021;41(10):1171-1174
Through analyzing the indication distribution of the different acupoints located at the upper limbs recorded in
Acupuncture Points
;
Arm
;
Goiter
;
Humans
;
Meridians
;
Tuberculosis, Lymph Node
7.Correlations of water iodine concentration to earlier goitre frequency in Sweden-an iodine sufficient country with long-term iodination of table salt.
Sofia MANOUSOU ; Maja STÅL ; Robert EGGERTSEN ; Michael HOPPE ; Lena HULTHÉN ; Helena FILIPSSON NYSTRÖM
Environmental Health and Preventive Medicine 2019;24(1):73-73
BACKGROUND:
Before iodination of Swedish table salt in 1936, iodine deficiency resulting in goitre and hypothyroidism was common. Sweden has become iodine sufficient, as shown in a national survey in 2007, proving its iodination fortification programme effective for the general population. The objective of this study was to collect drinking water from water treatment plants nationally and test if water iodine concentration (WIC) correlated to urinary iodine concentration (UIC) of school-aged children in a national survey 2007 to former goitre frequency in 1929 and to thyroid volume data in 2007.
METHODS:
In 2012, 166 treatment plants, located in 57% (166 of 290) of all Swedish municipalities, were asked to collect drinking water samples of approximately 10 ml. In 2007, tap water samples of the same volume were collected from 30 randomly selected schools for the national survey. Analysis of WIC was done in both treatment plants in 2012 (n = 166) and tap water in 2007 (n = 30). The correlation of WIC to the children's UIC and thyroid volume after iodination was tested based on data from the national survey in 2007. The association of WIC to former goitre frequency was tested based on pre-iodination data, derived from a map of goitre frequency drawn in 1929.
RESULTS:
The median WIC from water treatment plants was 4.0 μg/L (range 0-27 μg/L). WIC was similar in coastal and inland areas, for both ground and surface water. WIC correlated with historical goitre areas and was lower in the goitre areas than in non-goitre areas (p < 0.001). WIC in the same municipalities as the schools correlated with the UIC of children (p < 0.01), but not with their thyroid volume.
CONCLUSIONS
WIC still contributes to iodine nutrition in Sweden, but iodination overrides the goitre effect.
Adolescent
;
Child
;
Drinking Water
;
chemistry
;
Female
;
Food, Fortified
;
analysis
;
Goiter
;
epidemiology
;
history
;
History, 20th Century
;
History, 21st Century
;
Humans
;
Iodine
;
analysis
;
urine
;
Male
;
Sodium Chloride, Dietary
;
analysis
;
Sweden
;
epidemiology
;
Thyroid Gland
;
anatomy & histology
8.Thyroid Hormone Resistance in a Preterm Infant with a Novel THRB Mutation
Joon Yeol BAE ; Dong Yeop KIM ; Young Dai KWON ; Young Hwa SONG ; Han Hyuk LIM ; Hyung Doo PARK ; Jae Woo LIM
Neonatal Medicine 2019;26(2):111-116
Resistance to thyroid hormone (RTH) is a condition caused by a mutation in the thyroid hormone receptor gene. It is rarely reported in individuals with no family history of RTH or in premature infants, and its clinical presentation varies. In our case, a premature infant with no family history of thyroid diseases had a thyroid stimulating hormone level of 85.0 µIU/mL and free thyroxine level of 1.64 ng/dL on a thyroid function test. The patient also presented with clinical signs of hypothyroidism, including difficulties in feeding and weight gain. The patient was treated with levothyroxine; however, only free thyroxine and triiodothyronine levels increased without a decrease in thyroid-stimulating hormone levels. Taken together with thyroid gland hypertrophy observed on a previous ultrasound examination, RTH was suspected and the diagnosis was eventually made based on a genetic test. A de novo mutation in the thyroid hormone receptor β gene in the infant was found that has not been previously reported. Other symptoms included tachycardia and pulmonary hypertension, but gradual improvement in the symptoms was observed after liothyronine administration. This report describes a case involving a premature infant with RTH and a de novo mutation, with no family history of thyroid disease.
Diagnosis
;
Goiter
;
Humans
;
Hypertension, Pulmonary
;
Hypertrophy
;
Hypothyroidism
;
Infant
;
Infant, Newborn
;
Infant, Premature
;
Receptors, Thyroid Hormone
;
Tachycardia
;
Thyroid Diseases
;
Thyroid Function Tests
;
Thyroid Gland
;
Thyroid Hormone Receptors beta
;
Thyroid Hormone Resistance Syndrome
;
Thyrotropin
;
Thyroxine
;
Triiodothyronine
;
Ultrasonography
;
Weight Gain
9.High-intensity focused ultrasound ablation as a treatment for benign thyroid diseases: the present and future
Nicholas KOTEWALL ; Brian HH LANG
Ultrasonography 2019;38(2):135-142
High-intensity focused ultrasound (HIFU) is a promising ablation technique for benign thyroid nodules. Current evidence has found good short- to medium-term outcomes, similar to those of better-established ablation techniques such as radiofrequency and laser ablation. The fact that it does not require insertion of a needle into the target makes HIFU a truly non-invasive treatment. Although it is not without risks, its low risk profile makes it an attractive alternative to surgery. There is much room for future development, starting from expanding the current indications to enhancing energy delivery. Relapsed Graves disease and papillary microcarcinoma are diseases that can benefit from HIFU treatment. Its role in the mediation of immune responses and synergistic effects with immunotherapy are promising in the fight against metastatic cancers.
Ablation Techniques
;
Goiter, Nodular
;
Graves Disease
;
High-Intensity Focused Ultrasound Ablation
;
Hyperthermia, Induced
;
Immunotherapy
;
Laser Therapy
;
Needles
;
Negotiating
;
Thyroid Diseases
;
Thyroid Gland
;
Thyroid Nodule
;
Ultrasonography
;
Ultrasonography, Interventional
10.Thyrotoxic hypokalemic periodic paralysis due to Graves' disease in 2 adolescents
Jung Gi ROH ; Kyu Jung PARK ; Hae Sang LEE ; Jin Soon HWANG
Annals of Pediatric Endocrinology & Metabolism 2019;24(2):133-136
Thyrotoxic periodic paralysis (TPP) is a notable and potentially lethal complication of thyrotoxicosis, and Graves' disease is the most common cause of TPP. TPP is commonly reported in Asian males between 20–40 years of age, but it is rare in children and adolescents. We report 2 Korean adolescents (a 16-year-old male and a 14-year-old female) with episodes of TPP who were previously diagnosed with Graves' disease. These 2 patients presented with lower leg weakness in the morning after waking up. They were diagnosed with TPP-associated with thyrotoxicosis due to Graves' disease. After they were initially treated with potassium chloride and antithyroid drugs, muscle paralysis improved and an euthyroid state without muscle paralytic events was maintained during follow-up. Therefore, clinicians should consider TPP when patients have sudden paralysis and thyrotoxic symptoms such as goiter, tachycardia, and hypertension.
Adolescent
;
Antithyroid Agents
;
Asian Continental Ancestry Group
;
Child
;
Follow-Up Studies
;
Goiter
;
Graves Disease
;
Humans
;
Hypertension
;
Hypokalemia
;
Hypokalemic Periodic Paralysis
;
Leg
;
Male
;
Paralysis
;
Potassium Chloride
;
Tachycardia
;
Thyrotoxicosis


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