Abstract:
BACKGROUND:The risk factors for rapid growth and early metastasis of papillary thyroid carcinoma (PTC) and the role of coexisting Graves' disease in the clinical course of PTC remain uncertain in children. CASE DESCRIPTION:We report on a Japanese girl, whose PTC rapidly grew and metastasized within 4 years. Graves' disease was diagnosed by the presence of serum TSH receptor antibodies at 8 years of age when thyroid ultrasonography detected no nodules. After 4 years of effective treatment with thiamazole, multifocal nodules - up to 47 mm in diameter - were detected on thyroid ultrasonography. Chest CT scan revealed multiple metastatic lesions in the lung. After total thyroidectomy, PTC was pathologically diagnosed. The patient underwent two courses of radioactive iodine (RAI) treatment, but the pulmonary metastatic lesions did not take up the RAI. Molecular analyses of the PTC tissue identified a TFG/NTRK1 chimeric gene and disclosed the preserved expression of TSHR and the reduced expression of SLC5A5 compared with non-tumor thyroid tissue. CONCLUSIONS:Rapid growth and early metastasis of PTC with coexisting Graves' disease in this patient can be related to a combination of multiple factors including preserved TSHR expression, reduced SLC5A5 expression, and TFG/NTRK1 rearrangement.
journal_name
Horm Res Paediatrjournal_title
Hormone research in paediatricsauthors
Shimura K,Shibata H,Mizuno Y,Amano N,Hoshino K,Kuroda T,Kameyama K,Matsuse M,Mitsutake N,Sugino K,Yoshimura Noh J,Hasegawa T,Ishii Tdoi
10.1159/000491102subject
Has Abstractpub_date
2019-01-01 00:00:00pages
210-215issue
3eissn
1663-2818issn
1663-2826pii
000491102journal_volume
91pub_type
abstract::Prenatal treatment of congenital adrenal hyperplasia with dexamethasone (DEX) has been in use since the mid-1980s and has proven effective at reducing virilization of external genitalia in affected girls. However, multiple experimental studies on animals and clinical studies on humans show that prenatal administration...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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abstract::Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to being recognized as a lifelong, chronic condition affecting patients of all age groups. Increasing evidence suggests that patients with CA...
journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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abstract:BACKGROUND:Testicular microlithiasis (TM) is characterized by calcium deposits within the seminiferous tubules and is associated with benign and malign conditions. AIM:To determine TM prevalence in patients with congenital adrenal hyperplasia (CAH) and its association with testicular adrenal rest tumors (TART). PATIE...
journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
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abstract::3-M syndrome is an autosomal recessive primordial growth disorder characterised by severe postnatal growth restriction caused by mutations in CUL7, OBSL1 or CCDC8. Clinical characteristics include dysmorphic facial features and fleshy prominent heels with a variable degree of radiological abnormalities. CUL7 is a stru...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1159/000492398
更新日期:2018-01-01 00:00:00
abstract::The rising incidence of obesity and metabolic diseases such as diabetes mellitus and cardiovascular disease in adolescents and young adults is of grave concern. Recent studies favor a role of lifestyle factors over genetics in the perpetuation of inflammation, insulin resistance and oxidative stress, which are pathoph...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
doi:10.1159/000444053
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND/AIMS:We obtained reference data for testicular volume measured by ultrasound in asymptomatic boys aged 0.5-18 years. In addition, we assessed the validity of the Prader orchidometer per age group by correlating it with the volume measurement by ultrasound. METHODS:The study only included healthy boys with t...
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doi:10.1159/000326057
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更新日期:2016-01-01 00:00:00
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doi:10.1159/000308172
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 杂志文章,多中心研究,随机对照试验
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2013-01-01 00:00:00
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journal_title:Hormone research in paediatrics
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journal_title:Hormone research in paediatrics
pub_type: 临床试验,杂志文章
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更新日期:2013-01-01 00:00:00
abstract:AIMS:To investigate health-related quality of life (HRQoL) in short children born small for gestational age (SGA) during growth hormone (GH) treatment and additional postponement of puberty by gonadotropin-releasing hormone analogue (GnRHa). METHODS:HRQoL was studied longitudinally during 2 years of treatment in 97 sh...
journal_title:Hormone research in paediatrics
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doi:10.1159/000337218
更新日期:2012-01-01 00:00:00
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pub_type: 临床试验,杂志文章
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abstract:BACKGROUND/AIM:Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in ...
journal_title:Hormone research in paediatrics
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doi:10.1159/000284388
更新日期:2010-01-01 00:00:00
abstract::Regular self-monitoring of blood glucose is crucial for proper insulin dosing and gives a reliable foundation for reasonable glycaemic control. According to recent data, recommended values for glycated haemoglobin A1c as set by the professional associations remain out of the reach for a large proportion of the paediat...
journal_title:Hormone research in paediatrics
pub_type: 杂志文章,评审
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更新日期:2015-01-01 00:00:00
abstract:BACKGROUND/AIMS:Genetic variation in several candidate genes has been associated with short stature. Recently, a high-mobility group A2 (HMGA2) gene SNP has been robustly associated with height in the general population. Only few have attempted to study these genes in extremely tall stature. We therefore studied common...
journal_title:Hormone research in paediatrics
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abstract:BACKGROUND:The steroidogenic acute regulatory protein (StAR) is essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause lipoid congenital adrenal hyperplasia. OBJECTIVE AND METHODS:To identify causative mutations in a patient presenting with adrenal failure ...
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pub_type: 临床试验,杂志文章
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更新日期:2013-01-01 00:00:00