Ectopic thyroid is a rare condition (1/4000 to 1/8000 among patients with hypothyroidism). The underlying etiological pathogenic mechanisms remain unknown. Diagnosis is established on the basis of imaging findings. We report two cases of hypothyroidism in adult females who had ectopic sublingual thyroid glands. The first patient was a 20-Year-old woman who had been treated for hypothyroidism since the age of 13 Years before the diagnosis of ectopic thyroid 7 Years later. In both patients, the thyroid gland was palpable. In the first patient the physical examination revealed an ectopic sublingual gland. Scintigraphy confirmed the diagnosis in both patients. The CT-scan and MRI were positive in the second patient. Hormonal substitution therapy using L-thyroixine was given.
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http://dx.doi.org/10.1016/s0003-4266(04)95678-8 | DOI Listing |
JCEM Case Rep
February 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama 222-0036, Japan.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps.
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January 2025
Department of Thyroid Surgery, Jilin Provincial Key Laboratory of Surgical Translational Medicine, Jilin Provincial Precision Medicine Laboratory of Molecular Biology and Translational Medicine on Differentiated Thyroid Carcinoma, The China-Japan Union Hospital of Jilin University, Changchun, China.
Objective: To review a rare case of a lateral neck mass pathologically confirmed as an encapsulated papillary thyroid carcinoma in our center for complementing the lack of management of rare cases, and to explore the differentiation of primary ectopic thyroid carcinoma and metastatic disease in the context of the presence of malignant tumors within the situ thyroid gland.
Methods: We searched for studies on lateral neck ectopic thyroid cancer to compare and analyze it with metastatic carcinoma of the thyroid gland in terms of clinical features, imaging manifestations, pathological features at molecular level, and treatment principles.
Results: Based on available data, we concluded that the mass of this patient was consistent with metastatic lateral neck ectopic thyroid carcinoma.
Am J Perinatol
January 2025
Department of Pediatrics, Division of Neonatology, Oregon Health & Science University, Portland, United States.
Objective: To determine the prevalence of septo-optic-dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC) or dysgenesis of the corpus callosum (DCC).
Study Design: This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016-2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation.
Natl J Maxillofac Surg
November 2024
Department of Oral and Maxillofacial Surgery, Mamata Dental College, Khammam, Telangana, India.
Ectopic thyroid is a rare congenital anomaly that results from failure of decent from the foramen cecum to the primitive thyroid during the stage of embryogenesis. The specific prevalence ranges from 1 in 100,000-300,000 population. Development, genetics, and mutation play a role in the formation of ectopic thyroid.
View Article and Find Full Text PDFJCEM Case Rep
January 2025
Section of Endocrinology and Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London W12 ONN, UK.
We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded.
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