Humans ; Pyriform Sinus/surgery* ; Thyroid Neoplasms/diagnosis* ; Fistula/surgery* ; Diagnostic Errors ; Pharyngeal Diseases/surgery*

Female ; Humans ; Hypothyroidism ; Infant ; Mothers ; Thyroid Diseases/diagnosis* ; Thyroid Function Tests

Hashimoto's encephalopathy (HE) is a rare and underdiagnosed neuropsychiatric illness. We present the case of a 17-year-old girl who was admitted to a tertiary-care psychiatric center with acute onset psychosis and fever. Her psychotic symptoms were characterized by persecutory and referential delusions, as well as tactile and visual hallucinations. Her acute behavioral disturbance warranted admission and treatment in a psychiatric setting (risperidone tablets, 3 mg/day). She had experienced an episode of fever with a unilateral visual acuity defect approximately 3 years before admission, which was resolved with treatment. Focused clinical examination revealed an enlarged thyroid, and baseline blood investigations, including thyroid function test results were normal. Abnormal laboratory investigations revealed elevated anti-thyroid peroxidase (anti-TPO) and anti-thyroglobulin (anti-TG) levels (anti-TPO of 480 IU/mL; anti-TG of 287 IU/mL). Results of other investigations for infection, including cerebrospinal fluid examination, electroencephalography, and brain magnetic resonance imaging were normal. She was diagnosed with HE and was treated with intravenous corticosteroids (methylprednisolone up to 1 g/day; tapered and discontinued after a month). The patient achieved complete remission of psychotic symptoms and normalization of the anti-thyroid antibody titers. Currently, at the seventh month of follow-up, the patient is doing well. This case highlights the fact that in the absence of well-defined clinical diagnostic criteria, a high index of suspicion is required for early diagnosis of HE. Psychiatrists need to explore for organic etiologies when dealing with acute psychiatric symptoms in a younger age group.
Adolescent ; Adrenal Cortex Hormones ; Brain ; Brain Diseases ; Cerebrospinal Fluid ; Delusions ; Early Diagnosis ; Electroencephalography ; Female ; Fever ; Follow-Up Studies ; Hallucinations ; Humans ; Magnetic Resonance Imaging ; Methylprednisolone ; Peroxidase ; Psychiatry ; Psychotic Disorders ; Risperidone ; Tablets ; Thyroid Function Tests ; Thyroid Gland ; Visual Acuity

Digital medicine has the capacity to affect all aspects of medicine, including disease prediction, prevention, diagnosis, treatment, and post-treatment management. In the field of thyroidology, researchers are also investigating potential applications of digital technology for the thyroid disease. Recent studies using artificial intelligence (AI)/machine learning (ML) have reported reasonable performance for the classification of thyroid nodules based on ultrasonographic (US) images. AI/ML-based methods have also shown good diagnostic accuracy for distinguishing between benign and malignant thyroid lesions based on cytopathologic findings. Assistance from AI/ML methods could overcome the limitations of conventional thyroid US and fine-needle aspiration cytology. A web-based database has been developed for thyroid cancer care. In addition to its role as a nationwide registry of thyroid cancer, it is expected to serve as a clinical platform to facilitate better thyroid cancer care and as a research platform providing comprehensive disease-specific big data. Evidence has been found that biosignal monitoring with wearable devices may predict thyroid dysfunction. This real-world thyroid function monitoring could aid in the management and early detection of thyroid dysfunction. In the thyroidology field, research involving the range of digital medicine technologies and their clinical applications is expected to be even more active in the future.
Artificial Intelligence ; Biopsy, Fine-Needle ; Classification ; Diagnosis ; Hyperthyroidism ; Hypothyroidism ; Learning ; Machine Learning ; Thyroid Diseases ; Thyroid Gland ; Thyroid Neoplasms ; Thyroid Nodule

Nuclear medicine has been offering diagnostic and therapeutic solution since the introduction of radioactive iodine for thyroid diseases since decades. However, the concept of theranostics has given a new found impetus to the use of pairs of radiopharmaceuticals for diagnosis and treatment. Presented here is a perspective on theranostics from Pakistan.
Diagnosis ; Iodine ; Nuclear Medicine ; Pakistan ; Radiopharmaceuticals ; Theranostic Nanomedicine ; Thyroid Diseases

BACKGROUND: This study examined the change in the trabecular bone score (TBS), areal bone mineral density (aBMD), and osteoporosis in postmenopausal women who underwent thyrotropin (TSH)-suppressive therapy for treating papillary thyroid cancer after a total thyroidectomy procedure. METHODS: We evaluated 36 postmenopausal women who received a total thyroidectomy for papillary thyroid cancer and were undergoing TSH suppressive therapy with levothyroxine. Postmenopausal women (n=94) matched for age and body mass index were recruited as healthy controls. The aBMD and TBS of the lumbar spine were compared between dual energy X-ray absorptiometry (DXA) at baseline and at follow-up after an average of 4.92 years. RESULTS: There was no significant difference in the rate of diagnoses of osteoporosis, osteopenia, or normal bone status between the 2 groups during the baseline DXA evaluation. However, the TBS was significantly lower whereas aBMD did not show significant difference at the time of baseline DXA measurement (1st DXA, 1.343±0.098 vs. 1.372±0.06317, P < 0.001; 2nd DXA, 1.342±0.095 vs. 1.370±0.062, P < 0.001). The TBS and aBMD did not differ significantly between the initial and follow-up DXA images in both groups of TSH suppressive patients and controls. CONCLUSIONS: The average value of TBS and aBMD did not significantly change during the follow-up period. The TSH suppressive therapy was revealed as not a significant factor for the progressive deterioration of bone status during long term follow-up.
Absorptiometry, Photon ; Body Mass Index ; Bone Density ; Bone Diseases, Metabolic ; Diagnosis ; Female ; Follow-Up Studies ; Humans ; Osteoporosis ; Postmenopause ; Spine ; Thyroid Neoplasms ; Thyroidectomy ; Thyrotropin ; Thyroxine

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

With the generalized use of highly sensitive thyroid stimulating hormone (TSH) and free thyroid hormone assays, most thyroid function tests (TFTs) are straightforward to interpret and confirm the clinical impressions of thyroid diseases. However, in some patients, TFT results can be perplexing because the clinical picture is not compatible with the tests or because TSH and free T4 are discordant with each other. Optimizing the interpretation of TFTs requires a complete knowledge of thyroid hormone homeostasis, an understanding of the range of tests available to the clinician, and the ability to interpret biochemical abnormalities in the context of the patient's clinical thyroid status. The common etiologic factors causing puzzling TFT results include intercurrent illness (sick euthyroid syndrome), drugs, alteration in normal physiology (pregnancy), hypothalamic-pituitary diseases, rare genetic disorders, and assay interference. Sick euthyroid syndrome is the most common cause of TFT abnormalities encountered in the hospital. In hypothalamic-pituitary diseases, TSH levels are unreliable. Therefore, it is not uncommon to see marginally high TSH levels in central hypothyroidism. Drugs may be the culprit of TFT abnormalities through various mechanisms. Patients with inappropriate TSH levels need a differential diagnosis between TSH-secreting pituitary adenoma and resistance to thyroid hormone. Sellar magnetic resonance imaging, serum α-subunit levels, serum sex hormone-binding globulin levels, a thyrotropin-releasing hormone stimulation test, trial of somatostatin analogues, and TR-β sequencing are helpful for the diagnosis, but it may be challenging. TFTs should be interpreted based on the clinical context of the patient, not just the numbers and reference ranges of the tests, to avoid various pitfalls of TFTs and unnecessary costly evaluations and therapies.
Diagnosis ; Diagnosis, Differential ; Diagnostic Errors ; Euthyroid Sick Syndromes ; Homeostasis ; Humans ; Hyperthyroidism ; Hypothyroidism ; Magnetic Resonance Imaging ; Physiology ; Pituitary Neoplasms ; Rare Diseases ; Reference Values ; Sex Hormone-Binding Globulin ; Somatostatin ; Thyroid Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyrotropin ; Thyrotropin-Releasing Hormone

Atrial fibrillation (AF), the most common chronic arrhythmia in adults, is rarely reported in children. Moreover, most of the previously reported children with AF have comorbidities, such as structural heart diseases, rheumatic diseases, and thyroid diseases. This case report is about a healthy 9-year-old boy who was diagnosed with AF without cardiac anomaly. He visited the emergency department with chest pain and palpitation, lasting 2 hours. His electrocardiogram showed narrow-complex tachycardia, which led to the diagnosis of supraventricular tachycardia. The administration of adenosine revealed rapid irregular P waves. After electrical cardioversion, cardiac rhythm was converted to normal sinus rhythm. This case report suggests that when children with narrow-complex tachycardia visit the emergency department, the possibility of AF, in addition to supraventricular tachycardia, should be considered if the RR intervals are markedly irregular.
Adenosine ; Adult ; Arrhythmias, Cardiac ; Atrial Fibrillation ; Cardiovascular Diseases ; Chest Pain ; Child ; Comorbidity ; Diagnosis ; Electric Countershock ; Electrocardiography ; Emergency Service, Hospital ; Humans ; Male ; Pediatrics ; Rheumatic Heart Disease ; Tachycardia ; Tachycardia, Supraventricular ; Thyroid Diseases

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.
Antibodies ; Antibodies, Antinuclear ; Candida ; Candidiasis ; Candidiasis, Chronic Mucocutaneous* ; Candidiasis, Oral ; Child ; Diagnosis ; Exanthema ; Exome ; Fluconazole ; Genetic Background ; Hepatitis ; Hepatitis, Chronic* ; Humans ; Hypothyroidism* ; Immunoglobulin G ; Immunoglobulins ; Immunologic Tests ; Infant ; Lupus Erythematosus, Systemic* ; Male ; Mouth ; Mucous Membrane ; Pharynx ; Rare Diseases ; Skin ; Thyroid Diseases ; Thyroxine