Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

@article{Grasberger2005IdentificationOA,
  title={Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1},
  author={H. Grasberger and M. Vaxillaire and S. Pannain and J. Beck and A. Mimouni-Bloch and V. Vatin and G. Vassart and P. Froguel and S. Refetoff},
  journal={Human Genetics},
  year={2005},
  volume={118},
  pages={348-355}
}
Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attributed to inherited defects in PAX8 and the TSHR gene. The shared clinical picture caused by these defects is a variable degree of thyrotropin resistance (RTSH [MIM 275200]), accompanied in its severe… Expand
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TLDR
This chapter explores the abnormalities in the development of the thyroid gland during organogenesis referred to as thyroid dysgenesis, and mutations that activate the thyrotropin receptor (TSH) receptor and one of its clinical presentations is congenital hyperthyroid goiter. Expand
Genetics and phenomics of hypothyroidism due to TSH resistance
TLDR
The prevalence of TSHR mutations, on the molecular mechanisms leading to TSH resistance and on the variable clinical expression of this disease are focused on. Expand
Possible non-Mendelian mechanisms of thyroid dysgenesis.
TLDR
Evidence that non-Mendelian mechanisms must be involved in the vast majority of cases of thyroid dysgenesis is reviewed, for which the percentage of sporadic cases and of discordance between monozygotic twins exceeds 95%. Expand
Random variability in congenital hypothyroidism from thyroid dysgenesis over 16 years in Québec.
TLDR
The incidence of CHTD did not vary over the observation period, and its monthly variation was random, suggesting that environmental factors do not appear to play a significant role in the etiology ofCHTD. Expand
Screening for Pax8 Mutations in Patients with Congenital Hypothyroidism in South-West Germany
TLDR
These findings confirm the contribution of mutations in the Pax8 gene to the etiology of thyroid dysgenesis with a variable penetrance, but also demonstrate the rare overall incidence in CH. Expand
Severe skeletal dysplasia caused by undiagnosed hypothyroidism.
TLDR
In this patient, X-rays found no evidence for a mutation of the PAX8 gene known to cause an ectopic and/or hypoplastic thyroid, and the patient showed coarse facial features and a severe truncal shortening due to kyphoscoliosis of the spine. Expand
Resistance to thyrotropin.
TLDR
This review provides a succinct overview of currently defined causes of nonsyndromic RTSH, their differential diagnoses (autoimmune; partial iodine organification defects; syndromic forms of R TSH) and implications for the clinical approach to patients with RTSh. Expand
Chapter 8 – Developmental Abnormalities of the Thyroid
TLDR
Gain-of-function mutations of the thyroid hormone stimulating receptor (TSHR) gene are discussed, which are a rare cause of congenital hyperthyroidism. Expand
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
TLDR
Recognition of these rare thyroid disorders is of great importance not only for informed genetic counselling but also for avoiding diagnostic mistakes that may lead to incorrect and potentially dangerous treatments. Expand
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
TLDR
TSHR and TPO gene mutations were identified alone and together in individuals of a consanguineous kindred to evaluate the genotype-phenotype correlations when mutations in both genes are present alone or together in the same individual. Expand
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