eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | thyroid hypoplasia |
| Comorbidity | C0020676|hypothyroidism |
| Sentences | 10 |
| PubMedID- 25146893 | The aim of this study was to analyse the pax8 gene sequence in several members of the same family in order to understand whether the variable phenotypic expression, ranging from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism, could be associated to the genetic variant in the pax8 gene, detected in the proband. |
| PubMedID- 22272466 | A 13-year-old girl with a previous history of hypothyroidism due to thyroid hypoplasia presented with generalized myalgia, malaise, vomiting, and oliguria lasting for three days. |
| PubMedID- 20718765 | Design: the pax8 gene was sequenced in a mother and child both suffering from congenital hypothyroidism (ch) because of thyroid hypoplasia. |
| PubMedID- 21048839 | Loss-of-function mutations of the pax8 gene are considered to mainly cause congenital hypothyroidism (ch) due to thyroid hypoplasia. |
| PubMedID- 21448332 | thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for rubinstein-taybi syndrome. |
| PubMedID- 24194294 | Conclusion: we postulate that thyroid hypoplasia with primary subclinical hypothyroidism already reported in two wrs patients and nipple hypoplasia could also be the phenotypic reflection of the mutation of pleiotropic eif2ak3 gene in secretory cells. |
| PubMedID- 21513912 | The phenotypic expressivity of tsh resistance is highly variable going from severe congenital hypothyroidism (ch) with thyroid hypoplasia to mild hyperthyrotropinemia (hypertsh) associated with an apparent euthyroid state. |
| PubMedID- 25797365 | Nonfunctional mutations in the two alleles produce severe thyroid hypoplasia with overt hypothyroidism (uncompensated tsh resistance), while hypomorphic mutations in at least one allele produce normal-sized thyroid gland with preserved hormone-producing capacity (compensated tsh resistance). |
| PubMedID- 22570966 | The affected child was initially referred to our center for congenital hypothyroidism with a hypoplastic thyroid gland. |
| PubMedID- 24499175 | A new mutation in the promoter region of the pax8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with down's syndrome. |
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