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Background: Thyroid nodules are common in clinical practice. They are usually benign, but malignancy must be ruled out. Fine needle aspiration (FNA) biopsy of the thyroid is a rapid and cost-effective procedure in the initial evaluation of a thyroid nodule, but its results maybe inaccurate in 10% to 30% of cases. This prospective observational study was conducted to determine the prevalence of thyroid cancer, its related findings, and the diagnostic accuracy of preoperative FNA in a tertiary care center. Methods: We prospectively studied the medical records of 345 subjects, who underwent thyroid resection in the university hospital setting over a 4-year period. Age, gender, FNA and pathologic reports, and whether the lesion was multinodular or a solitary nodule were determined. Results: The sensitivity and specificity of FNA were 64.96% and 62.76%, respectively. The positive predictive value of the test for the diagnosis of malignant nodules was 59.30% and its negative predictive value was 68.20%. In 63.5% of the patients, the preoperative FNA matched the surgical histopathology results. The presence of multinodular goiter was an important risk factor for thyroid malignancy. Fifty-two subjects had papillary microcarcinoma and the rate of aggressive behavior was considerable in this group. Conclusions: Although fine needle aspiration biopsy is the most important step in the workup of the thyroid nodules, it may miss a significant number of malignant lesions. Therefore, there is a mandatory need to evolve other clinical and laboratory adjuncts, which assists the clinicians with the interpretation of FNA more accurately. [ABSTRACT FROM AUTHOR]

Cervical hemorrhage due to non-traumatic, spontaneous rupture of the thyroid artery is rare, which usually results from arterial abnormalities or parathyroid or thyroid disorders. This report describes a 72-year-old woman who presented with a sore throat and slight neck swelling. Computed tomography (CT) revealed a large hematoma in the neck and mediastinum, due to extravasation from the major branch of the left superior thyroid artery. A followup CT the next day demonstrated that the extravasation had resolved. Subsequent surgery revealed both parathyroid adenoma and multinodular goiter in the resected thyroid gland. A transient elevation of parathyroid hormone occurred immediately after the hemorrhage, suggesting that the hemorrhage may have been related to the parathyroid adenoma. However, ruptured thyroid arteries were not observed on histopathological examination of the resected tissue. [ABSTRACT FROM AUTHOR]

Introduction: Thyroidectomy is a common surgery performed especially in treatment of multinodular goitre. The most common post-thyroidectomy complication is a postoperative hypocalcaemia, and the percentage of postoperative hypoparathyroidism could reach even 50%. Tested group and methods: A forward-looking, randomized testing was done on a group of 113 women being subject to multinodular goitre surgery. In this article, we wish to present an analysis of the results obtained in the control group, focusing on the predicative factors which determine the development of postoperative hypocalcaemia. Obtained results: The rate of postoperative biochemical hypocalcaemia development was significantly higher in the group of patients, where the preoperative calcium concentration was lower than 2,4 mmol/l. In that group, the development of biochemical hypocalcaemia was observed in 93,7% of cases (30 out of 32 patients), in comparison with 65,3% (17 out of 26) in the group of higher preoperative concentration of calcium. The highest risk of occurrence of postoperative hypocalcaemia was borne by the total thyroidectomy, while the lowest one by the subtotal thyroid lobectomy of one lobe only. Conclusions: A higher preoperative concentration of calcium in blood serum is related to the lower rate of occurrence of postoperative biochemical hypocalcaemia. However, no such correlation was revealed in the case of postoperative symptomatic hypocalcaemia. Lack of correlation was determined between the preoperative concentration of TSH and FT4 in blood serum and the rate of occurrence of postoperative hypocalcaemia, both symptomatic and asymptomatic. The performed statistics did not reveal a relation between the postoperative hypocalcaemia and the duration of the surgery, but a significant correlation was stated with the scope of the performed surgery. Revealing a relation between the rate of occurrence of postoperative hypocalcaemia and the experience of the surgeon performing the surgery was not successful. [ABSTRACT FROM AUTHOR]

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Retrospective analysis on 312 patients, operated for thyroid nodules between 2014 and 2015, was conducted to evaluate the impact of frozen section analysis on the strategy of thyroid nodule surgery. One hundred and ninety-three patients were included. They all underwent preoperative US, fine needle aspiration cytology (FNAC), per operative frozen section (FS) and post operative definitive pathological analysis. Se, Sp, VPP and VPN of FNAC and FS were calculated and compared (McNemar's test). Multivariate analysis was performed to identify independent factor of good results. Se of FS and FNAC were, respectively, 86.1 and 81% with significant superiority of FS ( p = .0352). Sp of FS and FNAC were, respectively, 100 and 72% with significant superiority of FS ( p = .0156). A strategy based only on FNAC would have led to a 3.6% rate of unnecessary total thyroidectomy vs. 0% using FS. Overall rate of second procedure after lobectomy would have been significantly greater 28.9% without (28.9%) than with (10.3%) FS ( p = .018). Overall rate of undone one-stage central neck dissection concurrent to total thyroidectomy for MNG would not have been significantly different without (9.4%) and with (2.1%) FS (.058). FNAC alone is unable to determine the extent of thyroid nodule surgery whatever the Bethesda subtype may be. FS significantly decreases the risk of two-stage procedure. For one-stage total thyroidectomy for MNG, the gain with FS is scarce. [ABSTRACT FROM AUTHOR]

The anatomical approach to the intrathoracic goiter (ITG) was used to understand its etiology and to rationalize surgical technique of thyroidectomy. For a retrospective chart review, we selected cases of multinodular goiter with totally ITGs ( n = 69; M 29, F 40), while 916 cases with cervical goiter were used for comparison. The topography of the thyroid gland was assessed against the tracheal rings and against the vertebrae. The regional anatomy of the thoracic inlet was assessed by its bony margins and the relations of structures traversing the area. Average tracheal-diameter-to-thoracic-inlet ratio was calculated. The ITG group consisted of 52 cases of retrosternal goiter (75.4 %), nine cases of retrotracheal goiter (13 %), and eight cases of retroesophageal goiter (11.6 %). In all but one analyzed cases, the goiters were removed via cervical incision. Mean weight of goiters was 183 g. The area of thoracic inlet in the cases of ITG had no difference in comparison with the cases of cervical goiter (F/M p = 0.11/0.15), but the tracheal-diameter-to-thoracic-inlet ratio was significantly smaller (F/M p = 0.06/0.04). In the ITG cases, the position of the upper edge of the isthmus of the thyroid was about 1.5 tracheal rings lower than in healthy individuals ( p = 0.03). The area of the thoracic inlet, the neck size, and the anteroposterior diameter of the inlet do not affect the development of the ITG. The smaller tracheal-diameter-to-thoracic-inlet ratio and the lower position of the thyroid gland are the main indicators for the development of the ITG. [ABSTRACT FROM AUTHOR]

Summary Background/Objective Limited animal and human studies have shown function, albeit inadequate, of implanted thyroid tissue in muscles. This work aimed to ascertain results in a larger number of patients, finding practical method for implantation, studying the effect of changing weight of implant and effect of passage of time on its function. Methods Forty patients had total thyroidectomy for simple multinodular goiters. A piece of the excised gland was finely minced, mixed with saline as emulsion, and injected in thigh muscles. Twelve patients had 5-g implants, while 28 patients had 10-g implants. Four parameters were studied at 2 months, 6 months, and 12 months: technetium isotope uptake by the implant; thyroid stimulating hormone (TSH); free T3 (FT3); and free T4 (FT4). Results All autotransplanted thyroid tissue survived and functioned. After 12 months, mean values (± standard deviation) of isotope uptake, TSH, FT3, and FT4 of the 5-g implants were 0.44 ± 0.16%, 27.74 ± 30.4 UI/mL, 3.07 ± 1.10 pg/mL, and 1.01 ± 0.3 ng/dL, repectively. Those for the 10 g implants were 0.71 ± 0.20%, 22.78 ± 19.7 UI/mL, 3.92 ± 1.2 pg/mL, and 1.05 ± 0.3 ng/dL, repectively. Ten-gram implants showed significantly higher isotope uptake than 5-g. TSH, FT3, and FT4 significantly improved over the period of 1 year. Conclusion Injection of thyroid tissue suspension is a simple method for thyroid autotransplantation. TSH was elevated in the majority to maintain normal or near normal thyroid hormones. Ten-gram implants showed higher isotope uptake than 5-g, although this difference was not reflected by thyroid hormone profile. The implant seemed to function better with the passage of time from 2 months to 12 months. [ABSTRACT FROM AUTHOR]

Cowden syndrome (CS) or multiple hamartoma syndrome is an infrequent genodermatoses, which is inherited as an autosomal dominant trait resulting from the mutation in the Phosphatase and Tensin homolog gene on the arm 10q and is principally characterized by multiple hamartomas with an increased risk of development of malignancies. Facial and oral signs are remarkable in the form of multiple papules and trichilemmomas on the face. We report one such rare case of CS in a 19-year-old patient who was diagnosed on the basis of her oral mucosal lesions and was further investigated and diagnosed with other hamartomas. The present case report signifies the responsibility of the oral physician in the early diagnosis of this progressive pathological syndrome as it leaves its footmark in the oral cavity in the form of oral mucosal lesions.

Background: The aim of this study was to create a diagnostic model using the artificial neural networks (ANNs) to predict malignancy in multinodular goiter patients with an indeterminate cytology. Materials and Methods: Out of 623 patients, 411 evaluated for multinodular goiter between July 2004 and March 2010 had a fine-needle aspiration biopsy. All patients underwent total thyroidectomy. The interpretation was consistent with an indeterminate lesion in 116 (18.6%) patients. Patient′s medical records including age, sex, dominant nodule size, pre-operative serum thyroid-stimulating hormone level, thyroid hormone therapy and final pathologic diagnosis were collected retrospectively. Results: The mean age of the patients was 44.6 years (range, 17-78 years). About 104 (89.7%) were female and 12 (10.3%) were male patients. Final pathology revealed 24 malignant diseases (20.7%) and 92 (79.3%) benign diseases. After the completion of training, the ANN model was able to predict diagnosis of malignancy with a high degree of accuracy. The area under the curve of ANNs was 0.824. Conclusion: The ANNs technique is a useful aid in diagnosing malignancy and may help reduce unnecessary thyroidectomies in multinodular goiter patients with an indeterminate cytology. Further studies are needed to construct the optimal diagnostic model and to apply it in the clinical practice.

Background DICER1 syndrome is an autosomal dominant tumour predisposition syndrome associated with a wide variety of cancerous and noncancerous conditions, including ovarian sex cord-stromal tumours and thyroid conditions, including multinodular goiter. The most common ovarian sex cord-stromal tumour associated with DICER1 syndrome is Sertoli-Leydig cell tumour, with germline DICER1 mutations present in more than 50% of cases. We present a case in which a patient in her late 30s was diagnosed with a Sertoli-Leydig cell tumour in the background of a strong family history of multinodular goiter and Sertoli-Leydig cell tumour with a germline mutation in DICER1. Case Presentation A 38-year-old woman with history of multinodular goiter was found to have stage iiic ovarian Sertoli-Leydig cell cancer after presenting with abdominal pain. She underwent multiple surgeries and chemotherapy. The patient developed rapid disease progression and died 7 months after diagnosis. Seven years earlier, a daughter had experienced the same disease and was found to have a germline DICER1 mutation. The mother had not undergone testing before her own diagnosis. Summary The co-occurrence of Sertoli-Leydig cell tumour and multinodular goiter is highly suggestive of DICER1 syndrome. The recognition of DICER1 syndrome within a family is essential for increased awareness and potential early recognition of complications. Most conditions associated with DICER1 syndrome occur in childhood, and most of the current screening recommendations are specific for childhood and young adulthood. Cancer risks and findings for the adult population are not as well defined. Clinicians who encounter DICER1 syndrome should review recommendations for genetic testing and surveillance and enrol patients in the DICER1 registry. [ABSTRACT FROM AUTHOR]

Background: Congenital goiter constitutes a rare cause of congenital neck masses. Goitrous enlargement can be associated with serious airway obstruction. Case description: We report a term, girl baby with a large asymmetrical neck mass who presented on day 2 of life. Clinical examination revealed stridor and local examination showed an asymmetric nodular firm swelling with no signs of inflammation. The computerized tomography of the neck and fine needle aspiration cytology (FNAC) confirmed the swelling as being a multinodular goiter. The thyroid function test (TFT) was suggestive of hypothyroid status. Further investigations revealed the cause as being dyshormonogenesis probably secondary to a thyroglobulin synthetic defect. The baby was started on levothroxine supplementation (13 μg/kg/day); neck swelling markedly reduced with normalization of TFT over the next 3 weeks. To the best of our knowledge this is the first reported case of the presence of multinodularity in a baby with congenital goiter. [ABSTRACT FROM AUTHOR]

Background: A germline mutation of KEAP1 gene was reported as a novel genetic abnormality associated with familial multinodular goiter. That report was limited, and the pathogenic features were not well established.Patient Findings: We report a 47-year-old Japanese woman who presented with hyperthyroidism and a large multinodular goiter. The family history was notable for a paternal history of goiter. Graves’ disease was diagnosed based on positive TRAb, but scintiscan imaging showed that the patient’s radioiodine uptake was restricted in the non-nodular areas, indicating largely cold nodules. A total thyroidectomy was performed. The resected thyroid tissue weighed 209 g, and subsequent pathological findings were benign. The patient had a germline heterozygous KEAP1 mutation, c. 1448 G>A, resulting in an amino acid substitution (p.R483H). A next-generation sequencing analysis covering all known genes associated with multinodular goiter showed no additional germline mutation. The nuclear accumulation of NRF2, a protein associated with KEAP1, was shown at much higher rates in the patient’s nodules compared to nodules obtained from four unrelated patients with multinodular goiters.Conclusions: A novel germline mutation (R483H) of KEAP1 gene was associated with the development of a nontoxic multinodular goiter.

Background: Fine-needle aspiration (FNA) is a useful method for evaluating multinodular goiter; however, its role is still controversial. The aim of this study was to assess the utility of ultrasound-guided thyroid FNA in detecting malignancy in patients with multinodular goiter in Oman. Materials and Methods: This was a retrospective study where all patients with multinodular goiter seen at the Sultan Qaboos University Hospital endocrinology clinic in Oman in 2005 were evaluated. The thyroid FNA results were grouped into either malignancy (positive result) or others (negative result). They were compared to those of final histopathological examination in order to calculate the value of the test in diagnosing malignancy. Analyses were evaluated using descriptive statistics. Results: A total of 272 patients were included in the study. The mean age was 39΁13 years with an age range from 5 to 85 years. The majority of the patients were females (n=236; 87%). The results of thyroid FNA revealed that 6% (n=15) of the patients had malignancies while histopathological results showed that the proportion of subjects with malignancies was 18% (n=49). Out of the 15 cases identified to have malignances by thyroid FNA, only 53% (n=8) of the subjects were confirmed to have malignancy by biopsy. Overall, the results of the tests were poor, revealing a sensitivity of 16%, specificity of 97% and a diagnostic accuracy of 82%, with a positive predictive value of 53% and a negative predictive value of 84%. Conclusion: Thyroid FNA is not a useful test in differentiating multinodular goiter from malignancy, as more than 80% of the malignancies go unnoticed.

Recombinant human thyrotropin (rhTSH) reduces the activity of radioiodine required to treat multinodular goiter (MNG), but acute airway compression can be a life-threatening complication. In this prospective, randomized, double-blind, placebo-controlled study, we assessed the efficacy and safety (including airway compression) of different doses of rhTSH associated with a fixed activity of 131I for treating MNG. Euthyroid patients with MNG (69.3 ± 62.0 mL, 20 females, 2 males, 64 ± 7 years) received 0.1 mg (group I, N = 8) or 0.01 mg (group II, N = 6) rhTSH or placebo (group III, N = 8), 24 h before 1.11 GBq 131I. Radioactive iodine uptake was determined at baseline and 24 h after rhTSH and thyroid volume (TV, baseline and 6 and 12 months after treatment) and tracheal cross-sectional area (TCA, baseline and 2, 7, 180, and 360 days after rhTSH) were determined by magnetic resonance; antithyroid antibodies and thyroid hormones were determined at frequent intervals. After 6 months, TV decreased significantly in groups I (28.5 ± 17.6%) and II (21.6 ± 17.8%), but not in group III (2.7 ± 15.3%). After 12 months, TV decreased significantly in groups I (36.7 ± 18.1%) and II (37.4 ± 27.1%), but not in group III (19.0 ± 24.3%). No significant changes in TCA were observed. T3 and free T4 increased transiently during the first month. After 12 months, 7 patients were hypothyroid (N = 3 in group I and N = 2 in groups II and III). rhTSH plus a 1.11-GBq fixed 131I activity did not cause acute or chronic changes in TCA. After 6 and 12 months, TV reduction was more pronounced among patients treated with rhTSH plus 131I.