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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.
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… 
2011
2011
Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.
Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face… 
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… 
2008
2008
HLA antigens and congenital hypothyroidism.
HLA antigens A and B were determined in a group of 41 patients with congenital hypothyroidism and 36 of their mothers. Twenty… 
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… 
2005
2005
Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies
A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk… 
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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