Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism

Endocrine ◽  
2013 ◽  
Vol 45 (2) ◽  
pp. 206-212 ◽  
Author(s):  
Hakan Cangul ◽  
Kristien Boelaert ◽  
Murat Dogan ◽  
Yaman Saglam ◽  
Michaela Kendall ◽  
...  
2011 ◽  
Vol 75 (5) ◽  
pp. 311-321 ◽  
Author(s):  
Héctor M. Targovnik ◽  
Cintia E. Citterio ◽  
Carina M. Rivolta

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Toshio Kahara ◽  
Noboru Igarashi ◽  
Akira Hishinuma ◽  
Yuko Nakanishi ◽  
Akio Uchiyama ◽  
...  

Thyroglobulin gene mutation is a rare cause of congenital hypothyroidism, but thyroglobulin gene mutations are thought to be associated with thyroid cancer development. A 21-year-old Japanese man treated with levothyroxine for congenital hypothyroidism had an enlarged thyroid gland with undetectable serum thyroglobulin despite elevated serum TSH level. The patient was diagnosed with thyroglobulin gene mutation, with compound heterozygosity for Gly304Cys missense mutation and Arg432X nonsense mutation. Ultrasonography showed a hypovascular large tumor in the left lobe that appeared as a cold nodule on thyroid scintigraphy. He underwent total thyroidectomy, but pathological study did not reveal findings of thyroid carcinoma, but rather a hyperplastic nodule with hemorrhage. Strong cytoplasmic thyroglobulin immunostaining was observed, but sodium iodide symporter immunostaining was hardly detected in the hyperplastic nodule. The clinical characteristics of patients with thyroglobulin gene mutations are diverse, and some patients are diagnosed by chance on examination of goiter in adults. The presence of thyroid tumors that appear as cold nodules on thyroid scintigraphy should consider the potential for thyroid carcinoma, if the patient has relatively low serum thyroglobulin concentration in relation to the degree of TSH without thyroglobulin autoantibody.


2016 ◽  
Vol 423 ◽  
pp. 60-66 ◽  
Author(s):  
Xuyun Hu ◽  
Rongyu Chen ◽  
Chunyun Fu ◽  
Xin Fan ◽  
Jin Wang ◽  
...  

Thyroid ◽  
2008 ◽  
Vol 18 (7) ◽  
pp. 783-786 ◽  
Author(s):  
Viviane Pardo ◽  
Ileana G.S. Rubio ◽  
Meyer Knobel ◽  
Manoel H. Aguiar-Oliveira ◽  
Marcos M. Santos ◽  
...  

Author(s):  
Erik Artur Cortinhas Alves ◽  
Raissa Coelho Andrade ◽  
Carlos Eduardo de Melo Amaral ◽  
Milena Coelho Fernandes Caldato ◽  
Adriana Maria Rocha Bastos ◽  
...  

AbstractPrimary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000–4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already been described in the coding region of the tshr gene. The aim of present study was to investigate tshr gene mutations in patients with primary congenital hypothyroidism, analyzing a sample of 106 patients that were diagnosed with PCH. Genomic DNA was isolated from peripheral blood samples, and 10 exons from the TSH receptor were automatically sequenced. Five nucleotide alterations (P52T, N187N, A459A, L645L, and D727E. N187N and D727E polymorphisms) were associated with positive medical history. In view of the clinical, biochemical and molecular heterogeneity of the etiology of the PCH, the study of polymorphisms is critical for investigating the possible associations with prevailing symptoms of this disorder.


2005 ◽  
Vol 152 (2) ◽  
pp. 193-198 ◽  
Author(s):  
Carina Rodrigues ◽  
Paula Jorge ◽  
José Pires Soares ◽  
Isaura Santos ◽  
Regina Salomão ◽  
...  

Objective: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme. Subjects and methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon. Mutation screening in the TPO gene (exons 1–17) was performed by single-strand conformational analysis followed by sequencing of fragments with abnormal migration patterns. Results: Eight different mutations were detected in 13 patients (seven homozygotes and six compound heterozygotes). Novel mutations included three missense mutations, namely 391T > C (S131P), 1274A > G (N425S) and 2512T > A (C838S), as well as the predictable splice mutation 2748G > A (Q916Q/spl?). The undocumented polymorphism 180-47A > C was also detected. Conclusion: The results are in accordance with previous observations confirming the genetic heterogeneity of TPO defects. The proportion of patients in which the aetiology was determined justifies the implementation of this molecular testing in our CH patients with dyshormonogenesis.


2011 ◽  
pp. P3-610-P3-610
Author(s):  
Ester Saraiva Brust ◽  
Cristine Barboza Beltrao ◽  
Tomoco Watanabe ◽  
Maria Cristina Chammas ◽  
Suemi Marui

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria C. Opazo ◽  
Juan Carlos Rivera ◽  
Pablo A. Gonzalez ◽  
Susan M. Bueno ◽  
Alexis M. Kalergis ◽  
...  

Fetus and infants require appropriate thyroid hormone levels and iodine during pregnancy and lactation. Nature endorses the mother to supply thyroid hormones to the fetus and iodine to the lactating infant. Genetic variations on thyroid proteins that cause dyshormonogenic congenital hypothyroidism could in pregnant and breastfeeding women impair the delivery of thyroid hormones and iodine to the offspring. The review discusses maternal genetic variations in thyroid proteins that, in the context of pregnancy and/or breastfeeding, could trigger thyroid hormone deficiency or iodide transport defect that will affect the proper development of the offspring.


2000 ◽  
Vol 85 (10) ◽  
pp. 3708-3712 ◽  
Author(s):  
Bert Bakker ◽  
Hennie Bikker ◽  
Thomas Vulsma ◽  
Janine S. E. de Randamie ◽  
Brenda M. Wiedijk ◽  
...  

2016 ◽  
Vol 59 (10) ◽  
pp. 526-531 ◽  
Author(s):  
Hong Jiang ◽  
Jinhua Wu ◽  
Shengzhong Ke ◽  
Yue Hu ◽  
Anxing Fei ◽  
...  

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