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Objective: Rare coexistence of disease or pathology Background: We present a rare case of an ectopic thyroid nodule hyperplasia, confirmed postoperatively after excision and histopathological examination of a chronic cervical mass. We discuss the different clinical and therapeutic features of this rare thyroid dysgenesis caused by a defect of migration of the gland along its normal way of descent. Case Report: A 48-year-old man with a history of hypertension and asthma presented with dysphagia and a progressively growing firm mass at the anterior part of his neck over the past 6 months. Ultrasound and computed tomography suggested that the mass was attached only to the anterior part of the larynx, without connection to the thyroid, and with a multinodular gland in normal position. A complete surgical excision was performed under general anaesthesia through an external cervical approach. The mass, measuring 60×40 mm, was sent for a histological assessment, which concluded a fully encapsulated ectopic thyroid mass attached only to the soft tissues of the anterior part of the larynx, not showing any sign of malignancy transformation. The outcome of the surgery was marked by a quick recovery, with an improvement of the initial symptoms, proper healing of the surgical scar, and durable normal thyroid functioning after a regular follow-up of 6 months. Conclusions: Nonspecific symptoms can reveal ectopic thyroid tissue growth. Appropriate neck imaging combined, when available, with fine needle aspiration help to determine the extent of the mass and predict its nature. Surgical excision and histological analysis are required to confirm the diagnosis and to exclude any thyroid neoplasm. [ABSTRACT FROM AUTHOR]

Introduction: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases. This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variants. Methods: The study included cases whose genetic analysis was performed in accordance with the Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update Guidelines recommendations criteria and analyzed them using the next-generation sequencing panel. Results: Sixty one Turkish patients from 45 families were included in the study. The overall frequency of variant detection was 37.7% (out of 45 families, 17 had a positive mutation). Segregation was carried out for all families with positive variants. Variants in the TPO gene are the most frequently encountered, and this situation was identified in 10 families. Variants followed this in the TSHR gene in 7 families, variants in the DUOX2 gene in 5 families, and two variants in the TG and NKX2-1 genes in 2 families each, which are six novel variants. Furthermore, among the NKX2-1 cases, one had thyroid involvement only, while the other had chorea only. We did not find differences between cases with detected mutations and mutation-negative cases regarding gender, neonatal/perinatal parameters, initial thyroid function values, and thyroid morphology. Conclusion: In the current investigation, rare new variations in genes known to be related to CH were discovered, adding to the molecular genetic spectrum. When we compare the overall variant detection frequency, the selection criterion for genetic analysis based on the current guidelines is quite rational, considering the benefits and costs, on the other hand, present in new genes awaiting discovery. Also, TSHR mutations are likely to be common and may account for more than 5% of thyroid dysgenesis cases if we include nonfamilial thyroid dysgenesis. [ABSTRACT FROM AUTHOR]

Thyroid hemiagenesis (THA) is a rare congenital abnormality in which one of the thyroid lobes fails to develop normally. The prevalence rates range from 0.02% to 0.25%, with no gender preponderance and most commonly involve the left lobe. We report a case of left THA in a 37-year-old female that was found incidentally during total thyroidectomy for right papillary thyroid carcinoma. Most patients with THA are asymptomatic, however, may have subclinically raised thyroid-stimulating hormone levels or be predisposed to developing thyroid disorders such as nodular goiter, hyperthyroidism, Grave’s disease, Hashimoto’s thyroiditis, hyperparathyroidism, or malignancy. Usual imaging techniques such as ultrasonography, computed tomography, and magnetic resonance imaging allow the confirmation of diagnosis and provide clearer glandular and regional visualization. Additional modalities such as thyroid scintigraphy enable the functional assessment and identification of any suspicious nodules and aid in decision-making. THA is a very uncommon condition and the diagnosis is primarily made through imaging. Clinicians should be aware that this condition exists along with documented associations of concomitant thyroid disorders and malignancy.

Thyroid hemiagenesis (THA) is a rare congenital abnormality in which one of the thyroid lobes fails to develop normally. The prevalence rates range from 0.02% to 0.25%, with no gender preponderance and most commonly involve the left lobe. We report a case of left THA in a 37-year-old female that was found incidentally during total thyroidectomy for right papillary thyroid carcinoma. Most patients with THA are asymptomatic, however, may have subclinically raised thyroid-stimulating hormone levels or be predisposed to developing thyroid disorders such as nodular goiter, hyperthyroidism, Grave's disease, Hashimoto's thyroiditis, hyperparathyroidism, or malignancy. Usual imaging techniques such as ultrasonography, computed tomography, and magnetic resonance imaging allow the confirmation of diagnosis and provide clearer glandular and regional visualization. Additional modalities such as thyroid scintigraphy enable the functional assessment and identification of any suspicious nodules and aid in decision-making. THA is a very uncommon condition and the diagnosis is primarily made through imaging. Clinicians should be aware that this condition exists along with documented associations of concomitant thyroid disorders and malignancy. [ABSTRACT FROM AUTHOR]

Objectives: It was aimed to investigate the outcomes of babies referred to a tertiary health center in Turkey for evaluation primary congenital hypothyroidism (CH) through newborn screening., Methods: The hospital files of 328 newborns who were referred for CH from newborn screening between June 2013 and June 2020 were retrospectively reviewed. The newborns were evaluated with their clinical characteristics at admission, as well as their follow-up data and final diagnoses., Results: Sixteen (4.9 %) newborns were diagnosed with transient neonatal hyperthyrotropinemia after follow-up. Treatment was initiated in 166 (50.6 %) of the cases with a diagnosis of CH. The median age at initiation of treatment was 17 days (5-69). Treatment was initiated in 88.3 % of the cases in the first month of the life. After at least 3 years of follow-up, 30/120 (20.0 %) of the cases were diagnosed with permanent CH and 11/30 (36.7 %) of them were diagnosed with thyroid dysgenesis. All of the cases who used >37.5 µg per day levothyroxine at the age of 1 or 2 years were diagnosed with permanent CH during their follow-up. For the prediction of transient CH, the sensitivity and specificity of levothyroxine doses of ≤25 µg per day at 1 year of age were calculated as 96.2 and 46.2 %, and for 2 years of age, the sensitivity and specificity were calculated as 97.8 and 65.2 %., Conclusions: In this cohort, 10 % of all referrals result in permanent CH. Thyroid imaging with ultrasonography and levothyroxine dose during follow-up can be guiding in predicting permanent CH., (© 2024 Walter de Gruyter GmbH, Berlin/Boston.)

Introduction: Although thyroid abnormalities are observed less frequently in children than in adults, the increased incidence of thyroid cancer makes it mandatory for all pediatric surgeons to be knowledgeable about the disorders of this gland. Thyroid abnormalities can be associated with hyperthyroidism or hypothyroidism and euthyroidism and/or symmetric or asymmetric enlargement of the gland., Aim: The present study was undertaken to retrospectively analyze the indications, surgical techniques used, results obtained, and complications found in the surgical treatment of thyroid diseases in children and adolescents in a surgical center for the macro-region of western Poland., Methods: The data of 148 patients undergoing total or partial thyroidectomy between 2013 and 2022 were analyzed from the medical records of the Department of Pediatric Surgery, Traumatology, and Urology of the Medical University of Poznan, Poland., Results: A total of 95 children underwent subtotal thyroidectomy and 64 underwent total thyroidectomy, of which the procedure was widened to include prophylactic removal of neck lymph nodes in 45 patients. There were 113 girls (76%) in the analyzed group, and the average age of the patients at the time of surgical treatment was 15 years. The average time from the diagnosis of thyroid disease to surgery was 4 months, ranging from 2 weeks to 3 years. Of the 64 patients undergoing total thyroid resection, 35 (54.69%) were diagnosed with thyroid cancer., Conclusions: Collaboration within a multidisciplinary team ensures optimal surgical outcomes in children and adolescents with thyroid disease. With extreme caution, thyroid removal is a safe procedure with few complications, but the experience of the surgeon performing thyroid surgery in children remains crucial. Despite the absence of such a diagnosis in the first fine-needle aspiration biopsy, the high percentage of thyroid carcinomas in the analyzed group may be because the initial biopsy was performed in a less experienced center, also in terms of histopathological laboratory. Hence, we point out the necessity of performing a repeat fine-needle aspiration biopsy (according to the Bethesda classification) in a more experienced center before the final decision of thyroidectomy., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Sosnowska-Sienkiewicz, Danielewicz, Januszkiewicz-Lewandowska, Rusak, Anderko, Rzepecki, Niedziela, Harasymczuk and Mańkowski.)