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={Helmut Grasberger and Martine Vaxillaire and Silvana Pannain and John C. Beck and Aviva Mimouni-Bloch and Vincent Vatin and Gilbert Vassart and Philippe Froguel and Samuel 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… 
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Developmental Abnormalities of the Thyroid
Genetics and phenomics of hypothyroidism due to TSH resistance
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.
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.
Congenital hypothyroidism
TLDR
The prognosis of infants detected by screening and started on treatment early is excellent, with IQs similar to sibling or classmate controls, but studies show that a lower neurocognitive outcome may occur in those infants started at a later age, on lower l-thyroxine doses than currently recommended, and in those babies with more severe hypothyroidism.
Resistance to thyrotropin.
Chapter 8 – Developmental Abnormalities of the Thyroid
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
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.
Congenital Hypothyroidism.
  • M. Al-Qahtani
  • Medicine
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
  • 2020
TLDR
Congenital hypothyroidism is a potentially serious disease that the authors need to emphasize on early detection, using proper diagnostic tools and early and planned therapeutic approach.
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References

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TLDR
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TLDR
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TLDR
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TLDR
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