UNASSIGNED: Children with PTEN hamartoma tumor syndrome (PHTS) are at increased risk for developing thyroid abnormalities, including differentiated thyroid carcinoma (DTC). The Dutch PHTS guideline recommends ultrasound surveillance starting from age 18. Since the literature describes PHTS patients who developed DTC before age 18, the Dutch PHTS expertise centre has initiated annual ultrasound surveillance starting from age 12. The purpose of this study was to identify the yield of thyroid ultrasound surveillance in children.
UNASSIGNED: A retrospective single centre cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 between 2016-2023 were included. Patients\' medical records have been reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.
UNASSIGNED: Forty-three patients were included. Two patients (5%) were diagnosed with DTC at ages 12 and 17. Both DTCs were identified as minimally invasive follicular carcinoma at stages pT3NxMx and pT1NxMx respectively. A total of 84% were diagnosed with thyroid abnormalities at a median age of 12 years (range 9-18). Most common findings were benign, including nodular disease (74%), goiter (30%) and autoimmune thyroiditis (12%). Nodular growth was observed in 14 patients (33%) resulting in (hemi)thyroidectomy in 7 patients (16%).
UNASSIGNED: Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children at least from age 12, preferably within an expertise centre.

Biallelic loss-of-function variants in the IYD gene cause hypothyroidism resulting from iodine wasting. We describe 8 patients (from 4 families in which the parents are first cousins) who are homozygous for a variant in IYD (including a novel missense deleterious variant, c.791C>T [P264L], in 1 family). Seven patients presented between 5 and 16 years of age with a large goiter, overt hypothyroidism, and a high serum thyroglobulin. The goiter subsided with levothyroxine therapy in most. Upon stopping levothyroxine in 5 patients, goiter and hypothyroidism reappeared in 3. In these 3 patients, a rising serum thyroglobulin concentration preceded hypothyroidism and goiter and urinary iodine excretion was low. In patients who remained euthyroid, urinary iodine was normal. In conclusion, these patients bearing biallelic pathogenic variants in IYD developed a large goiter, a high serum thyroglobulin, and overt hypothyroidism when their iodine intake was low.

UNASSIGNED: Iodine deficiency is considered as a global challenge, even after decades of efforts to solve the issue. Our objective was to assess the iodine deficiency status and associated prevalence of goiter in population groups (school-age children and women) from rural areas of District Poonch, and to assess the determinants of iodine deficiency in the area.
UNASSIGNED: Cross-sectional study was conducted in District Poonch Azad Jammu and Kashmir from 25 April 2022 to 30 June 2023. A total of 150 goiter patients from different villages of the District Poonch was included. Their urinary iodine concentration and goiter prevalence was assessed. Using palpation techniques, a trained and experienced public health officer assessed the presence of goiters based on WHO/ UNICEF/ICCIDD criteria. Descriptive statistics were computed for continuous variables and presented in frequency and percentage, based on the distributional characteristics of the data. chi-square was used to check association between socio-demographic factors and goiter. It was a HEC Project No.: 20-16988/NRPU/R&D/HEC/2021.
UNASSIGNED: Iodine status and associated goiter prevalence was high and 59.3% of them were severely iodine deficient. Within the district, the highest severe iodine deficiency was observed in 81.1% goiter patients of the Rawalakot subdivision, Hajira and Abbaspur subdivisions. Regarding goiter status 40% of the patients were classified with palpable-visible goiter and 56% were characterized with visible but nodular goiter.
UNASSIGNED: Study showed that there was a severe iodine deficiency and associated goiter prevalence in the area. Policymakers should take actions for future to overcome iodine deficiency in future.

Diffuse toxic goiter (DTG) is an autoimmune disease caused by antibodies against thyroid-stimulating hormone (TSH) receptors. Combinations of DTG with other autoimmune diseases such as endocrine ophthalmopathy, pretibial myxedema and acropathy are often observed in clinical practice. Along with this pathology, the patient has hypodynamia and, as a result, the development of functional disorders of the musculoskeletal system. Aim - to analyze the comprehensive clinical observation of the diagnosis and treatment of DTZ with EOP of a child aged 15 years. Material and methods. Analysis of medical history data, comprehensive examination, including fixation of the physiological and dental status, supervision of patient K., 15 years old, who was on inpatient treatment in the children\'s department of the State Medical Institution \"OKB No. 1\" in Tyumen. Conclusion. This case report demonstrates symptoms of diffuse toxic goiter with ophthalmopathy that may manifest on only one side. It shows a decrease in functional parameters, manifestations in the dental system, due to a decrease in habitual motor activity, which corresponds to the clinical picture of manifestations of periodontal disease. In addition, it shows the possibility of relapse of the disease after clinical and laboratory remission during medication intake, what may be an indication for surgical treatment. Practitioners need to remember about this pathology and the need for its timely diagnosis, including specialists in related fields.

UNASSIGNED: In Malawi there is a perception that goitre is common and causes significant public health and economic burdens. The purpose of this study was to assess the demographic distribution, clinical presentation, investigations, management, outcomes and complications of goitre seen at Queen Elizabeth Central Hospital (QECH), Blantyre, Malawi.
UNASSIGNED: A single hospital-based descriptive retrospective study from January 2017 to December 2018 for all patients presenting with goitre.
UNASSIGNED: Out of 9073 patients who presented to ENT department, 105 patients presented with goitre representing 1% of all patients seen during the study period. The Male: Female ratio was 1:25. The mean symptom duration with goitre was 4 years (SD +/- 6.4). Thyroid function test results were available in 54 patients and out of these, 53(98%) patients were euthyroid. Ultrasound scan (USS) reports were available in 44 patients, of these 32(73%) were multinodular goitres. In 70 cases, pathology results were available and showed that 20% were thyroid cancers and that papillary thyroid carcinoma was the commonest cancer (64%). Two recurrent laryngeal nerve injuries were recorded in 79 surgical procedures representing 2.5% of patients (6.3% overall complication rate). Inpatient stay ranged from 2 days to 49 days (median 3 days).
UNASSIGNED: Goitre at our centre is more common in women than in men. One in five patients in this cohort had thyroid cancers. This prevalence is higher than other areas in the world highlighting the need for cytology services on every patient before surgery and histology services after surgery. Recurrent laryngeal nerve injury and other complications were infrequent demonstrating local high safety of thyroid surgery, despite late presentation to the ENT department.

Pediatric thyroid nodules (TNs) present a higher malignancy rate compared to adults. We sought to diagnose the frequency and characteristics of TNs in children and adolescents with subclinical hypothyroidism (SH) and their outcomes after levothyroxine (LT4) therapy. A total of 256 children with TNs and SH were followed every semester from 2006 to 2018. All patients were treated with LT4. Clinical and radiologic findings, such as the size and texture of the nodules, were documented. Analysis included one-way ANOVA, Kruskal-Wallis, Chi-square, and Fisher\'s exact tests. After initial LT4 therapy, TNs disappeared in 85.5% and did not reappear throughout follow-up. In 14.5%, TNs remained the same or increased in size, but they decreased after subsequent LT4 administration with an increased dose. Thyroid disease family history (FHTD) was documented in 77.0%. In total, 64.5% developed a goiter, 46.0% exhibited thyroid heterogeneity on ultrasound, 23.4% had positive Anti-Tg, and 25.4% had positive anti-TPO autoantibodies. Our findings support the possible premise that early pharmacologic intervention with LT4 may be beneficial in children and adolescents with TNs and SH. The increased frequency of FHTD, goiter, thyroid heterogeneity, and Hashimoto in our patients emphasizes that thyroid ultrasounds may be warranted in children and adolescents with these characteristics in order to rule out the presence of TNs.

UNASSIGNED: Thoracic inlet view radiograph is an investigation for assessing patients with goitre in many centres in the sub-Saharan-region. However, there is paucity of information on its usefulness in the diagnosis of retrosternal goitre (RSG) and in planning for thyroidectomy.
UNASSIGNED: A review of patients with goitre managed in the Division of Endocrine Surgery, University College Hospital, Ibadan, Nigeria, between 2002 and 2014 was done. Data were obtained from Operating Theatre Log and electronic data archive of the Division. Clinical RSG (CRSG) was taken as a gland that the examining fingers could not get below its lower margin and Radiological RSG (RRSG) on thoracic inlet view was any extension of the thyroid gland beyond the thoracic inlet. Intra-operatively, if any part of the gland extends beyond the thoracic inlet it was considered as an RSG.
UNASSIGNED: 221 (96.5%) of the 229 patients who had thoracic inlet plain radiograph were included in this study. The Male to Female ratio was 1:5.5. WHO grade III goitre was seen in 56.1% of the patients and 43.9% had grade II goitre. The CRSG, RRSG and Intra-operative RSG were seen in 7.7%, 16.7% and 17.6% respectively. The specificity and sensitivity of clinical examination in determining RSG was 88.7% and 94.1% and that of Thoracic inlet radiograph was 97.8% and 94.6% respectively.
UNASSIGNED: It is a useful study for screening patients with goitre for retrosternal extension, however it could not be used to determine the need for extra-cervical surgical access during thyroidectomy.

UNASSIGNED: We present a case with systemic amyloidosis secondary to ankylosing spondylitis (AA amyloidosis), whose 99mTc PYP scintigraphy revealed amyloid deposition in the thyroid gland (amyloid goiter). Amyloidosis is characterized by extracellular accumulation of amyloid fibril proteins leading to organ malfunction. Even though AA amyloidosis can be observed in patients with systemic inflammatory diseases, it is a very rare complication in ankylosing spondylitis. SPECT/CT images showed diffuse tracer uptake in enlarged thyroid gland containing fat density areas.

Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient\'s age, and sex. To gain insights into clinical occurrences, a retrospective study analyzed medical records from patients with iodine deficiency-induced goiter or thyroid cancer who underwent surgery at the Community Hospital in Riehen, Switzerland, between 1929 and 1989. Despite today\'s adequate iodine supplementation, a significant risk for iodine-independent goiter remains in Switzerland, suggesting that genetic factors, among others, might be involved. Thus, a pilot study exploring the feasibility of genetic analysis of blood spots from these medical records was conducted to investigate and enhance the understanding of goiter development, potentially identify genetic variations, and explore the influence of dietary habits and other environmental stimuli on the disease.Blood prints from goiter patients\' enlarged organs were collected per decade from medical records. These prints had been made by pressing, drawing, or tracing (i.e., pressed and drawn) the removed organs onto paper sheets. DNA analysis revealed that its yields varied more between the prints than between years. A considerable proportion of the samples exhibited substantial DNA degradation unrelated to sample collection time and DNA mixtures of different contributors. Thus, each goiter imprint must be individually evaluated and cannot be used to predict the success rate of genetic analysis in general. Collecting a large sample or the entire blood ablation for genetic analysis is recommended to mitigate potential insufficient DNA quantities. Researchers should also consider degradation and external biological compounds\' impact on the genetic analysis of interest, with the dominant contributor anticipated to originate from the patient\'s blood.

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