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Thyroid Hypoplasia

Known as: Hypoplasia, Thyroid, Hypoplastic thyroid 
Developmental hypoplasia of the thyroid gland. [HPO:probinson]
National Institutes of Health

Related topics

Related topics

7 relations
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESISIdiopathic atrophic hypothyroidismThyroid AgenesisThyroid Diseases

Broader (1)

Thyroid Dysgenesis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands
Abstract Background: The morphological and biochemical phenotype of PAX8 mutation in patients with congenital hypothyroidism (CH… 
2013
2013
Novel heterozygous thyrotropin receptor mutation presenting with neonatal hyperthyrotropinaemia, mild thyroid hypoplasia and absent uptake on radioisotope scan
Abstract Hyperthyrotropinaemia [mildly elevated thyrotropin (TSH) with normal thyroxine (T4) levels] demands a full assessment… 
2011
2011
Severe rhabdomyolysis and acute renal failure in an adolescent with hypothyroidism.
Hypothyroidism has been reported rarely as the cause of rhabdomyolysis in adults and children. We present here a non-compliant… 
2008
2008
Connexin-32 acts as a downregulator of growth of thyroid gland.
Thyroid epithelial cells communicate through gap junctions formed from connexin (Cx)32, Cx43, and Cx26. We previously reported… 
2008
2008
Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome
In the Williams-Beuren syndrome (WBS), disorders of the thyroid function and morphology have been reported and programs of… 
2006
2006
Screening for Pax8 Mutations in Patients with Congenital Hypothyroidism in South-West Germany
Aims: To study the frequency of mutations in the Pax8 gene in a cohort of patients with congenital hypothyroidism (CH) in South… 
Highly Cited
2004
Highly Cited
2004
Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor
objective  We wished to ascertain whether mutations in the TSH receptor (TSHR) gene were present in two siblings with congenital… 
2004
2004
Analysis of the PAX8 Gene in Congenital Hypothyroidism Caused by Different Forms of Thyroid Dysgenesis in a Father and Daughter
Thyroid dysgenesis occurs sporadically with only rare familial presentation. We report a father and daughter with congenital… 
1988
1988
INTRAFALLOPIAN EGG REPLACEMENT WITHOUT IVF BACK-UP
1985
1985
Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?
Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly… 
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