Familial Forms of Thyroid Dysgenesis

2007 ◽  
pp. 15-28 ◽  
Author(s):  
Mireille Castanet ◽  
Michel Polak ◽  
Juliane Léger
Keyword(s):  
Thyroid Dysgenesis

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

2014 ◽  
Vol 27 (9-10) ◽  
Author(s):  
Hakan Cangul ◽  
Halil Saglam ◽  
Yaman Saglam ◽  
Erdal Eren ◽  
Durmus Dogan ◽  
...  
Keyword(s):  
Splice Site ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Thyroid Dysgenesis ◽  
Tshr Gene

Two novel mutations in Gli-similar 3 in patients with congenital hypothyroidism and thyroid dysgenesis

2021 ◽  
Author(s):  
Jie Lan ◽  
Chunhui Sun ◽  
Xinping Liang ◽  
Ruixin Ma ◽  
Yuhua Ji ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Transcriptional Activation ◽  
Luciferase Assay ◽  
Expression Vectors ◽  
Luciferase Reporter ◽  
Dominant Negative Effect ◽  
Wild Type ◽  
Thyroid Dysgenesis ◽  
Type Protein ◽  
Wild Type Protein

Abstract Background: Thyroid dysgenesis (TD) is the main cause of congenital hypothyroidism (CH). As variants of the transcription factor Gli-similar 3 (GLIS3) have been associated with CH and GLIS3 is one of candidate genes of TD, we screened and characterized GLIS3 mutations in Chinese patients with CH and TD.Methods: To detect mutations, we sequenced all GLIS3 exons in the peripheral blood genomic DNA isolated from 50 patients with TD and 100 healthy individuals. Wild-type and mutant expression vectors of Glis3 were constructed. Quantitative real-time PCR, western blotting, and double luciferase assay were performed to investigation the effect of the mutations on GLIS3 protein function and transcriptional activation.Results: Two novel heterozygous missense mutations, c.2710G>A (p.G904R) and c.2507C>A (p.P836Q), were detected in two unrelated patients. Functional studies revealed that p.G904R expression was 59.95% lower and p.P836Q was 31.23% lower than wild-type GLIS3 mRNA expression. The p.G904R mutation also resulted in lower GLIS3 protein expression compared with that encoded by wild-type GLIS3. Additionally, the luciferase reporter assay revealed that p.G904R mediated impaired transcriptional activation compared with the wild-type protein (p < 0.05) but did not have a dominant-negative effect on the wild-type protein.Conclusions: We for the first time screened and characterized the function of GLIS3 mutations in Chinese individuals with CH and TD. Our study not only broadens the GLIS3 mutation spectrum, but also provides further evidence that GLIS3 defects cause TD.

scholarly journals Incidence of congenital hypothyroidism in the city of Uberaba/Minas Gerais and etiological evaluation of the affected subjects

2012 ◽  
Vol 56 (5) ◽  
pp. 305-312 ◽  
Author(s):  
Heloísa Marcelina da Cunha Palhares ◽  
Lilian Carla Silva ◽  
Luciene Mayumi Sato ◽  
Beatriz Hallal Jorge Lara ◽  
Sybele de Souza Castro Miranzi ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Minas Gerais ◽  
The State ◽  
Thyroid Dysgenesis ◽  
Outpatient Unit ◽  
Transient Hypothyroidism ◽  
Molecular Studies ◽  
Definition Of ◽  
The City

OBJECTIVE: The objective of this study was to determine the incidence and etiology of congenital hypothyroidism (CH) in Uberaba, MG. SUBJECTS AND METHODS: From 2001 to 2010, by reviewing patient files from a public reference outpatient unit. The screening program covered 88% of live-born children. RESULTS: CH was diagnosed in 16 children, representing an incidence of 1:2,017 live-born children screened. The etiological evaluation was done in 15 children and revealed seven cases of thyroid dysgenesis, seven of dyshormonogenesis, and one case of transient hypothyroidism. One child moved away from the state before etiological investigation was carried out. CONCLUSION: We concluded that both the incidence of CH and of dyshormonogenesis as the main causes of CH were increased in the investigated region, but molecular studies are necessary for a better definition of etiology.

scholarly journals Bone Maturnity Delay in Congenital Hypothyroid

2020 ◽  
Vol 3 (1) ◽  
pp. 726-734
Author(s):  
Azhari Gani ◽  
Iskandar Zakaria
Keyword(s):  
Mental Retardation ◽  
Preterm Birth ◽  
Thyroid Hormone ◽  
Thyroid Gland ◽  
Physical Growth ◽  
Growth Disorders ◽  
Thyroid Dysgenesis ◽  
Thyroid Hormone Biosynthesis ◽  
Age Of Diagnosis ◽  
Hormone Biosynthesis

Congenital hypothyroid (CH) is a Hormonal disorder that can be caused by thyroid gland dysfunction and if not treated early on, will cause serious mental and physical growth disorders. CH is divided into permanent and transient forms which etiologically can be divided into primary, secondary or peripheral. Thyroid dysgenesis is the primary cause and 85% of permanent CH is with abnormalities of thyroid hormone biosynthesis from birth (dishormongeneses). The incidence of dysgenesis accounts for 10-15% of cases. Transient congenital thyroid occurs mostly in infants with preterm birth in low-iodine endemic areas. A study showed a permanent incidence of CH 1: 1500 and transient CH 1: 300 in one of the areas with iodine deficiency in Central Java.Survival analysis showed that the risk of developing mental retardation and delayed physical growth was greater at the age of diagnosis over 1 year.

Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis

2018 ◽  
Vol 119 (11) ◽  
pp. 9474-9482 ◽  
Author(s):  
Zhixia Zhou ◽  
Chengyu Yang ◽  
Fuyan Lv ◽  
Wenmiao Liu ◽  
Shengli Yan ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Mutation Analysis ◽  
Thyroid Dysgenesis

Absence of Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) in Patients with Thyroid Dysgenesis

Thyroid ◽  
1997 ◽  
Vol 7 (3) ◽  
pp. 377-381 ◽  
Author(s):  
MARIA GRAZIA PERNA ◽  
DONATO CIVITAREALE ◽  
VITO DE FILIPPIS ◽  
MICHELE SACCO ◽  
CARMELA CISTERNINO ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Thyroid Dysgenesis ◽  
Transcription Factor 1
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