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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypothyroidism
Comorbidity C0018021|goiter
Sentences 14
PubMedID- 23113744 Background: a cluster of cases of congenital hypothyroidism with goiter (chg) in tenterfield terriers was identified and hypothesized to be dyshormonogenesis of genetic etiology with autosomal recessive inheritance.
PubMedID- 22025859 The 7.4% (4/54 developed hypothyroidism without goiter and 3.7% (2/54) patients developed hypothyroidism with goiter formation and 3.7% (2/54) patients developed euthyroid goiter.
PubMedID- 21565790 Context: congenital hypothyroidism (ch) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (duox2) mutations in the presence of iodide organification defect.
PubMedID- 21162688 Fetal blood sampling by cordocentesis revealed severe fetal hypothyroidism as the cause of goiter development.
PubMedID- 23737781 Congenital hypothyroidism (ch) with multinodular goiter (mng) is uncommonly seen in children.
PubMedID- 26478542 Background: a case of congenital hypothyroidism with goiter (chg) in a juvenile french bulldog was identified and hypothesized to be caused by dyshormonogenesis of genetic etiology.
PubMedID- 20444279 Patients with hyper- or hypothyroidism associated with multinodular goiter with no other suspicious features in history and clinical examination have a low risk of thyroid cancer1.
PubMedID- 21966648 However, instead of hypothyroidism leading to goiter, they were of the view that edema caused goiter.
PubMedID- 24027744 In this case, diagnosis and treatment of goiter due to hypothyroidism occurred even earlier than most of other reported cases due to unusual presentation of thyroid mass in the neck.
PubMedID- 24257104 The physical examination may reveal clues to an underlying etiology, such as a goiter with hypothyroidism, and should include assessment for abnormal body proportions that may be indicative of a skeletal dysplasia.
PubMedID- 23002999 We present two cases of fetal hypothyroidism with goiter which were successfully diagnosed and treated in utero.
PubMedID- 23223904 Congenital hypothyroidism with goiter (chg) occurring as an autosomal recessive disorder is typically due to a defect of thyroid hormone synthesis (aka dyshormonogenesis).
PubMedID- 22336364 Method: five patients who had transit congenital hypothyroidism with goiter were enrolled.
PubMedID- 21787613 These observations associated to the elevated serum tsh levels and gland hypertrophy suggest that ddt exposure induced an hypothyroidism state with a colloid goiter in rats.

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