نتایج جستجو برای: Thyroid dysgenesis

تعداد نتایج: 85068  

2017
Clebson Pantoja Pimentel Erik Artur Cortinhas-Alves Edivaldo Herculano Correa de Oliveira Luiz Carlos Santana-da-Silva

Background. Recent data have suggested that polymorphisms in the length of the polyalanine tract (polyA) of FOXE1 gene may act as a susceptibility factor for thyroid dysgenesis. The main purpose of this study was to investigate the influence of polyA of FOXE1 gene on the risk of thyroid dysgenesis. Method. A case-control study was conducted in a sample of 90 Brazilian patients with thyroid dysg...

A Ordookhani, F Azizi, P Mirmiran,

Introduction: To assess the relationship between parental consanguinity and permanent congenital hypothyroidism (PCH). Materials And Methods: From February 1998 to August 2002, cord dried blood spot samples, viz. only live births, in eight hospitals and a rural birth center in Tehran and Damavand were collected on Whatman BFC 180 filter papers. Samples with cord TSH  20 mU/L (two-site IRMA) ...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2004
Jussara Vono-Toniolo Peter Kopp

Congenital hypothyroidism affects about 1:3000-1:4000 infants. Screening programs now permit early recognition and treatment, thus avoiding the disastrous consequences of thyroid hormone deficiency on brain development. In about 85%, congenital hypothyroidism is associated with developmental defects referred to as thyroid dysgenesis. They include thyroid (hemi)agenesis, ectopic tissue and thyro...

An ectopic thyroid is a form of thyroid dysgenesis in which an entire or parts of the thyroid gland may be located in another part of the body than what is the usual place. The most frequent location is the base of tongue. Although most cases are asymptomatic, symptoms related to tumor size and its relationship with surrounding tissues, hormonal dysfunction and seldom malignancy may also occur....

Thyroid ectopia is a dysgenesis of thyroid gland and Lingual position represents the most frequent ectopic location accounting up to 90% of ectopic cases. Hypothyroidism is commonly present because of absence of a normal thyroid gland in most instances. Primary hypothyroidism in juvenile population generally leads to retardation of linear growth and delay or even arrested puberty. We present a ...

Journal: :Molecular and cellular endocrinology 2010
Henrik Fagman Mikael Nilsson

Congenital hypothyroidism is mainly due to structural defects of the thyroid gland, collectively known as thyroid dysgenesis. The two most prevalent forms of this condition are abnormal localization of differentiated thyroid tissue (thyroid ectopia) and total absence of the gland (athyreosis). The clinical picture of thyroid dysgenesis suggests that impaired specification, proliferation and sur...

2017
Abhinav Kumar Gupta Syed Mohd. Razi Deepak Chand Gupta Saqib Ahmad Khan Pankaj Jain Keshav Kumar Gupta

Introduction: Congenial hypothyroidism due to thyroid dysgenesis is usually regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%). Herein, we describe a case report of unusually large family of 10 siblings, out of which five were affected with congenital hypothyroidism, which is supposed to be the world’s largest series of familial congeni...

Journal: :Hormone research in paediatrics 2010
Mireille Castanet Daniela Marinovic Michel Polak Juliane Léger

The pathophysiology of thyroid dysgenesis remains unclear and, until recently, this disorder was generally regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%) through the study of subjects with congenital hypothyroidism, and more recent work has revealed an even higher proportion of familial thyroid dysgenesis in both symptomatic and asy...

Journal: :ORL; journal for oto-rhino-laryngology and its related specialties 2010
W K Mydlarz K Zhang S T Micchelli M Kim R P Tufano

BACKGROUND/AIMS To describe a case of left thyroid dysgenesis, accompanied by ipsilateral double parathyroid adenomas in a setting of primary hyperparathyroidism, and to review the pertinent literature on the diagnosis of these rare clinical scenarios. METHODS Review of the English literature with addition of a case report. RESULTS Preoperative evaluation included both sestamibi and ultraso...

Journal: :Arquivos brasileiros de endocrinologia e metabologia 2010
Frouzandeh Mahjoubi Mona Malek Mohammadi Maryam Montazeri Masoud Aminii Mahin Hashemipour

OBJECTIVE Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS The patients were classified in two group...

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