Clinical and genetic characteristics of a large monocentric series of patients affected by thyroid hormone (Th) resistance and suggestions for differential diagnosis in patients without mutation of Th receptor β

Hypothyroidism is a common disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. Underactivity of thyroid is usually primary, from disease of thyroid, but may be secondary to hypothalamic-pituitary disease (reduced TSH drive). Untreated hypothyroidism can cause a number of health problems, such as obesity, hypertension, dyslipidaemia, infertility. The prevalence increases with age, and is higher in females than in males. Autoimmune thyroid disease is the most common aetiology of hypothyroidism. Clinical symptoms of hypothyroidism are nonspecific and may be subtle, especially in older persons. TSH and FT4 measurement are the laboratory examinations necessary for the diagnosis of hypothyroidism as well as the differential diagnosis between primary (clinical or subclinical) and secondary one. In the majority of patients, alleviation of symptoms can be accomplished through oral administration of synthetic levothyroxine, and most patients will require lifelong therapy.KYAMC Journal Vol. 7, No.-1, Jul 2016, Page 707-713

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New-onset thyrotoxicosis in a patient with anaplastic thyroid carcinoma: a diagnostic challenge

Endocrinology Diabetes and Metabolism Case Reports ◽

10.1530/edm-21-0053 ◽

2021 ◽

Vol 2021 ◽

Author(s):

Marcio José Concepción Zavaleta ◽

Sofia Pilar Ildefonso Najarro ◽

Esteban Alberto Plasencia Dueñas ◽

María Alejandra Quispe Flores ◽

Diego Martín Moreno Marreros ◽

...

Keyword(s):

Differential Diagnosis ◽

Thyroid Cancer ◽

Thyroid Hormone ◽

Anaplastic Thyroid Cancer ◽

Thyroid Stimulating Hormone ◽

Anaplastic Thyroid Carcinoma ◽

List Type ◽

Diagnostic Challenge ◽

Adequate Treatment ◽

The Right

Summary Anaplastic thyroid cancer (ATC) is the type of thyroid cancer that has the worst prognosis. It usually presents as a rapidly growing cervical mass that generates compressive symptoms. Its association with thyrotoxicosis is rare. A 76-year-old woman, with no contributory history, presented with a 3-month course of fast-growing cervical tumor, associated with tenderness, cough, and weight loss. Physical examination revealed goiter, localized erythema, and a painful and stone tumor dependent on the right thyroid lobe. Due to the malignant findings of the thyroid ultrasound, the patient underwent a thyroid core needle biopsy, which indicated ATC. Laboratory tests revealed leukocytosis, decreased thyroid-stimulating hormone, elevated free thyroxine (fT4), and increased thyroperoxidase (TPO) antibodies. At the beginning, we considered that the etiology of thyrotoxicosis was secondary to subacute thyroiditis (SAT) after SARS-CoV-2 infection, due to the immunochromatography result and chest tomography findings. The result of markedly elevated TPO antibodies left this etiology more remote. Therefore, we suspected Graves’ disease as an etiology; however, thyroid histopathology and ultrasound did not show compatible findings. Therefore, we suspect that the main etiology of thyrotoxicosis in the patient was the destruction of the thyroid follicles caused by a rapid invasion of malignant cells, which is responsible for the consequent release of preformed thyroid hormone. ATC is a rare endocrine neoplasm with high mortality; it may be associated with thyrotoxicosis, whose etiology can be varied; therefore, differential diagnosis is important for proper management. Learning points Anaplastic thyroid cancer is the thyroid cancer with the worst prognosis and the highest mortality. The association of anaplastic thyroid cancer with thyrotoxicosis is rare, and a differential diagnosis is necessary to provide adequate treatment. Due to the current pandemic, in patients with thyrotoxicosis, it is important to rule out SARS-CoV-2 as an etiology. Anaplastic thyroid cancer, due to its aggressive behavior and rapid growth, can destroy thyroid follicular cells, generating preformed thyroid hormone release, being responsible for thyrotoxicosis.

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Thyroid hormone resistance syndrom: difficulties in differential diagnosis

Clinical and experimental thyroidology ◽

10.14341/ket9522 ◽

2018 ◽

Vol 14 (1) ◽

pp. 39-46

Author(s):

Lyudmila A. Ruyatkina ◽

Aguniya A. Molchanova ◽

Alina S. Ruyatkina ◽

Lyudmila Y. Rozhinskaya

Keyword(s):

Differential Diagnosis ◽

Thyroid Hormone ◽

Thyroid Hormones ◽

Thyroid Hormone Receptor ◽

Signs And Symptoms ◽

Thyroid Stimulating Hormone ◽

Heterozygous Mutation ◽

Hormone Resistance ◽

Thyroid Hormone Resistance ◽

Free Thyroid Hormones

Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by reduced peripheral tissue responses to thyroid hormones (TH) and elevated levels of circulating free thyroid hormones. Resistance to thyroid hormone is caused by mutations of the thyroid hormone receptor beta (THRB) gene. In this article, we present case of 26-years-old women who presented with unclear signs and symptoms. Thyroid morphology and function were evaluated with standard ultrasound of the thyroid, scintigraphy and cytological specimen obtained by FNAB. The features of the basic assessment of thyroid status with an emphasis on the concept of “±feedback” of thyroid-stimulating hormone (TSH) and TH. A differential diagnosis of TSH-secreting pituitary adenoma and RTH was discussed. Heterozygous mutation p.P453T in the THRB gene was detected. Thus, the given clinical case demonstrates the necessity of the thorough examination of patients in identifying disorders of the principle of “±feedback”. The observation in dynamics is recommended.

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Reference Intervals for Total T4 and Free T4 in Cynomolgus Macaques (Macaca fascicularis) and Rhesus Macaques (Macaca mulatta)

Journal of the American Association for Laboratory Animal Science ◽

10.30802/aalas-jaalas-20-000126 ◽

2021 ◽

Author(s):

Joseph D Sciurba ◽

Jennifer M Hayes ◽

Seyed Mehdi Nouraie ◽

Heather M Wilson ◽

Jeffrey D Fortman ◽

...

Keyword(s):

Differential Diagnosis ◽

Thyroid Hormone ◽

Rhesus Macaques ◽

Clinical Signs ◽

Thyroid Function Test ◽

Reference Intervals ◽

Serum Samples ◽

Free T4 ◽

Cynomolgus Macaques ◽

Age Range

Thyroid diseases, associated with either increased or decreased concentrations of circulating thyroid hormones, are prevalent in both human and veterinary populations. Hypothyroidism is a differential diagnosis for many medical problems as the disease presents with nonspecific clinical signs that can include lethargy, weight gain, cold intolerance, and dermatologic manifestations such as alopecia. Alopecia is a frequently reported problem in captive nonhuman primates (NHP), and hypothyroidism is considered to be a differential diagnosis. However, thyroid function test results in NHP using total T4 (TT4) and free T4 (FT4) assays are difficult to interpret without accurate reference intervals (RI) for comparison. As a consequence,hypothyroidism may be underdiagnosed in these species. The objective of this study was to establish RI for TT4 and FT4 in healthy populations of cynomolgus macaques (n = 133; age range 2.6 to 24.7 y) and rhesus macaques (n = 172; age range 0.8 to 31.0 y). Serum samples were collected across a 14-y period during routine anesthetic events in clinically healthy animals, and TT4 and FT4 concentrations were measured using commercially available immunoassays. The RI established for TT4 andFT4 were 5.1 to 14.9 ug/dL and 0.48 to 1.17 ng/dL for cynomolgus macaques, and 3.9 to 14.7 ug/dL and 0.36 to 1.12 ng/dL for rhesus macaques. Significant differences in thyroid hormone concentrations were found between Indian and Chinese origin rhesus, and between Mauritian and other origin cynomolgus. In addition, juvenile and subadult rhesus exhibited significantly higher FT4 and TT4 concentrations than did older animals. Individual RI were established for subgroups with adequately different thyroid hormone concentrations. These results will allow a more thorough diagnostic evaluation of cynomolgus and rhesus macaques with clinical signs consistent with thyroid disease and will ultimately be a refinement in NHP medicine.

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Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa

Life ◽

10.3390/life11030260 ◽

2021 ◽

Vol 11 (3) ◽

pp. 260

Author(s):

Mei Nakahara ◽

Akio Oishi ◽

Manabu Miyata ◽

Hanako Ohashi Ikeda ◽

Tomoko Hasegawa ◽

...

Keyword(s):

Visual Acuity ◽

Differential Diagnosis ◽

Retinitis Pigmentosa ◽

Myotonic Dystrophy ◽

Clinical Characteristics ◽

Genetic Characteristics ◽

Atypical Form ◽

Important Differential Diagnosis ◽

Minimum Angle ◽

The Subject

Concentric retinitis pigmentosa (RP), in which retinal degeneration is limited in the periphery, is rare and little information exists to date on the subject. Herein, we describe the clinical and genetic characteristics of this atypical form of RP. We retrospectively reviewed our database and identified 14 patients with concentric RP. Additionally, 14 patients with age-matched typical RP were also included. Patients with concentric RP had better visual acuity (logarithm of minimum angle of resolution −0.04 vs. 0.32, p = 0.047) and preserved ellipsoid zones (7630 µm vs. 2646 µm, p < 0.001) compared to typical RP. The electroretinogram showed subnormal but recordable responses in patients with concentric RP. Genetic testing was done in nine patients with concentric RP and revealed causative mutations in the EYS gene in one patient and the RP9 gene in one patient. Two patients had myotonic dystrophy and the diagnosis was revised as myotonic dystrophy-associated retinopathy. Concentric RP is a rare, atypical form of RP with better visual function. There is some overlap in the causative genes in concentric and typical RP. Myotonic dystrophy-associated retinopathy is an important differential diagnosis.

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Acute Kidney Injury and Rhabdomyolysis as an Initial Presentation of Hashimoto’s Thyroiditis

The Southwest Respiratory and Critical Care Chronicles ◽

10.12746/swrccc.v1i2.53 ◽

2013 ◽

Vol 1 (2) ◽

pp. 35

Author(s):

Deephak Swaminath ◽

Chok Limsuwat ◽

Ebtesam Islam

Keyword(s):

Acute Kidney Injury ◽

Differential Diagnosis ◽

Abdominal Pain ◽

Thyroid Hormone ◽

Physical Exercise ◽

Young Patient ◽

Hormone Replacement ◽

Kidney Injury ◽

Thyroid Hormone Replacement ◽

Common Causes

The myopathy associated with hypothyroidism is usually mild and causes myalgia,stiffness, fatigability, and muscle weakness. Severe forms of myopathy, such as rhabdomyolysiswith acute kidney injury (AKI), have rarely been reported in hypothyroidpatients. We describe a young patient who presented with generalized body aches,cramps, and abdominal pain with vomiting after physical exercise. His laboratory studiesdemonstrated that he had rhabdomyolysis and AKI secondary to hypothyroidism;both resolved with thyroid hormone replacement. Hypothyroidism should be consideredin the differential diagnosis of rhabdomyolysis when common causes are excluded.

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Ectopic thyroid - two case reports

Bangladesh Journal of Otorhinolaryngology ◽

10.3329/bjo.v18i2.12016 ◽

2012 ◽

Vol 18 (2) ◽

pp. 193-199

Author(s):

DGM Akaiduzzaman ◽

Md Zahedul Alam ◽

Manilal Aich

Keyword(s):

Differential Diagnosis ◽

Thyroid Hormone ◽

Thyroid Gland ◽

Case Reports ◽

Management Strategies ◽

Rare Condition ◽

Ectopic Thyroid ◽

Rare Entity ◽

Thyroid Scintigraphy ◽

Rare Finding

Bachground: Ectopic thyroid is a rare entity resulting from maldescent of the thyroid gland & can be found anywhere between the foramen cecum & the normal pretracheal position of the thyroid gland, as well as in distant places such as the mediastinum and the subdiaphragmatic organs. Although most cases are asymptomatic, obstructive symptoms may appear. Any disease affecting the thyroid gland may also involve the ectopic thyroid, including malignancy. Hypothyroidism is frequent but hyperthyroidism is an exceptionally rare finding. The clinician must distinguish between ectopic thyroid and metastatic deposits emerging from an orthotopic gland, as well as other benign or malignant masses. Thyroid scintigraphy plays the most important role in diagnosing ectopy, but ultrasonography contributes as well. Treatment is indicated in the presence of symptoms & consists initially of full replacement thyroid hormone therapy. Severe or unresponsive cases require excision.Case reports: We present here two case reports & review of the literature.Conclusion: This review provides current understanding about the wide clinical spectrum of this rare condition, optimal diagnostic approach, differential diagnosis, and management strategies. DOI: http://dx.doi.org/10.3329/bjo.v18i2.12016 Bangladesh J Otorhinolaryngol 2012; 18(2): 193-199

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Clinical, hormonal, and molecular genetic characteristics of patients with Р450с17 (17a-hydroxylase/17,20-liase) insufficiency

Problems of Endocrinology ◽

10.14341/probl11304 ◽

2001 ◽

Vol 47 (1) ◽

pp. 20-24

Author(s):

A. N. Tyulpakov ◽

N. Yu. Kalinchenko ◽

S. Yu. Kalinchenko ◽

L. Ya. Rozhinskaya ◽

P. M. Platonova ◽

...

Keyword(s):

Differential Diagnosis ◽

Sex Steroids ◽

Direct Sequencing ◽

Molecular Genetic ◽

Corticosterone Level ◽

Clinical Findings ◽

Testicular Feminization ◽

Genetic Characteristics ◽

Exon 1 ◽

Male Karyotype

Deficiency of Р450с17 (17a-hydroxylase/17,20-liase) is а rare hereditary steroidogenesis defects disordering the synthesis of sex steroids and leading to excessive production of mineralocorticoid production. Clinical findings and results of molecular and hormonal studies in 6patients with P450cl7 deficiency are presented. All patients were born with female phenotype, 5 with male karyotype and 1 with female karyotype. Testicular feminization was erroneously diagnosed in all genetic men, and the genetic woman was treated for ovarian in sufficiency. Five of 6 patients suffered from severe arterial hypertension (up to 100/130 mm Hg). Hypopotassemia was observed in 3 patients. P450cl7 deficiency was diagnosed on the basis of increased serum corticosterone level, and in 4 patients it was confirmed by multisteroid analysis. Amplification and subsequent direct sequencing of CYP17gene revealed homozygotic mutation in exon 1 (R96Q) in 1 patient. The same mutations in exon 6 (V360L) were detected in 2 unrelated families (4 patients). Constituent heterozygosis by 2 mutations, in exon 6 (R347C) and exon 8 (R416C), was detected in 1 patient. These findings evidence the need in differential diagnosis of P450cl7 deficiency and the testicular feminization syndrome.

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Tumor Diagnosis

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100053966 ◽

1982 ◽

Vol 40 ◽

pp. 262-265

Author(s):

Bruce Mackay

Keyword(s):

Electron Microscopy ◽

Transmission Electron Microscopy ◽

Differential Diagnosis ◽

Light Microscopy ◽

Clinical Examination ◽

Ultrastructural Study ◽

Diagnostic Procedures ◽

Specific Diagnosis ◽

Transmission Electron ◽

Microscopic Diagnosis

The broadest application of transmission electron microscopy (EM) in diagnostic medicine is the identification of tumors that cannot be classified by routine light microscopy. EM is useful in the evaluation of approximately 10% of human neoplasms, but the extent of its contribution varies considerably. It may provide a specific diagnosis that can not be reached by other means, but in contrast, the information obtained from ultrastructural study of some 10% of tumors does not significantly add to that available from light microscopy. Most cases fall somewhere between these two extremes: EM may correct a light microscopic diagnosis, or serve to narrow a differential diagnosis by excluding some of the possibilities considered by light microscopy. It is particularly important to correlate the EM findings with data from light microscopy, clinical examination, and other diagnostic procedures.

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