Background: Abnormalities of the serum thyroid hormone binding proteins are not uncommon but, when properly assessed, they do not present diagnostic difficulties. In contrast, the presence of two inherited defects of thyroid hormone transport, of the type presented in the family described here, may cause a major problem in diagnosis and has not been described previously.
Methods: All conventional thyroid function tests were carried out. In addition, thyroid hormone binding to serum proteins was assessed by agarose gel electrophoresis, and thyroxine binding globulin by immunoassays and by immunodiffusion. The affinity of TBG for thyroxine and its maximal binding capacity were assessed by Scatchard analysis.
Results: Tests carried out on 22 members of the family revealed familial dysalbuminaemic hyperthyroxinaemia in 10 family subjects. All five living siblings of the propositus had familial dysalbuminaemic hyperthyroxinaemia and two tested transmitted this trait to their children and grandchildren. This was not the case with the propositus. Partial thyroxine binding globulin deficiency only, inherited presumably from the propositus' mother, was found in two family members. Both thyroxine binding globulin deficiency and familial dysalbuminaemic hyperthyroxinaemia were detected in the propositus and in his male nephew, masking the typical laboratory abnormalities associated with each of these defects.
Conclusions: Coexistence of two inherited defects of thyroid hormone transport proteins produce atypical thyroid function test abnormalities, which can be misinterpreted as thyroid hormone dysfunction.
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http://dx.doi.org/10.1111/j.1365-2265.1994.tb02508.x | DOI Listing |
Ann Surg
January 2025
University of Alabama at Birmingham, Birmingham, AL, United States.
Objective: To assess the impact of parathyroid gland autotransplantation on the restoration of parathyroid function in patients who are hypoparathyroid after thyroidectomy.
Background Data: Hypoparathyroidism post-thyroidectomy arises when all parathyroid glands are devascularized or injured. Autotransplantation of compromised parathyroids aims to preserve their function and prevent permanent hypoparathyroidism.
iScience
January 2025
Medical Research Institute KITANO HOSPITAL, PIIF Tazuke-kofukai, Kita-ku, Osaka 530-8480, Japan.
Activation of thyroid-stimulating hormone receptor (TSHR) fundamentally leads to hyperthyroidism. To elucidate TSHR signaling, we conducted transcriptome analyses for hyperthyroid mice that we generated by overexpressing TSH. TSH overexpression drastically changed their thyroid transcriptome.
View Article and Find Full Text PDFHeliyon
January 2025
Department of Statistics, Bangabandhu Sheikh Mujibur Rahman Agricultural University, Gazipur, Bangladesh.
Background: Phthalates, a large group of endocrine disruptors, are ubiquitous in the environment and detrimental to human health. This scoping review aimed to summarize the effects of phthalates on laboratory animals relevant to humans, assess toxicity, and analyze mechanisms of toxicity for public health concerns.
Methods: Articles were retrieved from Google Scholar, PubMed, ScienceDirect, and Web of Science search engines.
Cureus
December 2024
Diabetes and Endocrinology, United Lincolnshire Hospital NHS Trust, Lincoln, GBR.
The cardiovascular implications of thyroid disease have been recognized as one of the most characteristic signs that result from the effect of thyroid hormone (TH). Both hyperthyroidism and hypothyroidism produce changes in cardiac contractility, myocardial oxygen consumption, cardiac output, blood pressure, and systemic vascular resistance. The bradyarrhythmias, including atrioventricular block and sick sinus syndrome, are exceedingly rare in hyperthyroidism.
View Article and Find Full Text PDFEJIFCC
December 2024
Department of Chemical Pathology, Inkosi Albert Luthuli Central Hospital, National Health Laboratory Service and University of KwaZulu Natal, Durban, South Africa.
Background: Familial hypocalciuric hypercalcemia (FHH) is a rare, benign condition that shares characteristics with primary hyperparathyroidism (PHPT), a more sinister condition that requires surgical intervention. This case report demonstrates misdiagnosis of FHH and highlights important learning points to prevent this in the future.
Case Presentation: Hypercalcaemia was incidentally discovered in a 21-year-old patient who had no symptoms of hypercalcaemia and no significant family history.
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