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A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency.
Clin Pediatr Endocrinol
November 2023
Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan.
Article Synopsis
- - The case report discusses a 13-year-old male with TBG-CD who had an asymptomatic follicular adenoma that unexpectedly shrank without treatment.
- - Despite low levels of thyroxin and TBG, the patient presented with a swollen thyroid gland and a nodule detected through ultrasonography.
- - Genetic testing confirmed a variant leading to TBG deficiency; the findings suggest that monitoring via ultrasound may be sufficient for similar cases rather than immediate treatment.
Partial Thyroid Hormone-Binding Globulin Deficiency: A Case Report and Literature Review.
Diabetes Metab Syndr Obes
July 2023
Department of Endocrine Medicine, The Fourth Affiliated Hospital of Guangzhou Medical University, Guangzhou, People's Republic of China.
Background: Thyroxine binding globulin (TBG) deficiency is a rare thyroid disease, mostly caused by genetic mutations and acquired by X-linked recessive inheritance. The clinical features of children with TBG deficiency and their family members were summarised and the Serpina7 gene mutation was analysed, providing a reference for the differentiation of TBG deficiency.
Methods: Thyroid function was detected in TBG deficient patients, and genetic analysis was performed using polymerase chain reaction (PCR) and direct DNA sequencing to detect the characteristics of TBG mutants.
Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea.
Endocrinol Metab (Seoul)
December 2022
Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Article Synopsis
- This study investigates TBG deficiency in five unrelated Korean adults by analyzing the SERPINA7 gene, which produces the thyroxine-binding globulin protein responsible for transporting thyroid hormones.
- Four out of the five patients were found to have SERPINA7 gene mutations, with one novel mutation identified and three cases of a previously known mutation linked to complete TBG deficiency (TBG-CDJ) in Japan.
- The research highlights the importance of accurately diagnosing TBG deficiency to avoid mismanagement, and emphasizes the need for further genetic analysis of SERPINA7 in the Korean population.
Identification of a novel mutation in thyroxine-binding globulin (TBG) gene associated with TBG-deficiency and its effect on the thyroid function.
J Endocrinol Invest
April 2022
Radiation Medicine Centre, Bhabha Atomic Research Centre, TMH Annexe Building, Parel, Mumbai, 400012, India.
Article Synopsis
- * Genetic analysis revealed a specific mutation (S353Q, 354fs3X) linked to TBG deficiency and showed that one of the affected female family members had selective X-chromosomal inactivation.
- * Although initial thyroid function tests showed normal results, changes over time indicated an autoimmune cause, highlighting the need for further testing to clarify the relationship between TBG mutations and thyroid function for better diagnosis and treatment.
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