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Hypothyroidism
A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction.
Congenital Hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA.
Year introduced: 2006 (1966)
Hypothyroidism, Congenital, Nongoitrous, 1 [Supplementary Concept]
also known as CHNG 1; associated with mutations oITSHR
Date introduced: October 24, 2013
Hypothyroidism, Congenital, Nongoitrous, 2 [Supplementary Concept]
also known as CHNG2; associated with mutatins in PAX8
Date introduced: August 24, 2012
Bamforth syndrome [Supplementary Concept]
Date introduced: August 25, 2010
Hypothyroidism, Congenital, Nongoitrous, 3 [Supplementary Concept]
Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress [Supplementary Concept]
associated with mutation of thyroid transcription factor 1 gene NKX2
Johanson Blizzard syndrome [Supplementary Concept]
A hereditary autosomal recessive disorder characterized by poor growth, intellectual disability, and variable dysmorphic features, including nasal alae abnormalities, abnormal hair patterns or scalp defects, ANODNOTIA. Affected individuals may also have hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency. Mutations in the UBR1 gene have been identified. OMIM: 243800
Hypothyroidism, Congenital, Nongoitrous, 5 [Supplementary Concept]
also known as CHNG5
Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism [Supplementary Concept]
Date introduced: November 5, 2012
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Agenesis of the Corpus Callosum [Supplementary Concept]
Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia [Supplementary Concept]
Thyroid Dyshormonogenesis 1 [Supplementary Concept]
mutation in SLC5A5
Thyroid Dyshormonogenesis 6 [Supplementary Concept]
mutation in DUOX2
Thyroid Dyshormonogenesis 2A [Supplementary Concept]
mutation in Iodide Peroxidase
Thyroid Dyshormonogenesis 5 [Supplementary Concept]
mutation in DUOXA2
Thyroid Dyshormonogenesis 4 [Supplementary Concept]
Thyroid Dyshormonogenesis 3 [Supplementary Concept]
PROM mutation in thyroglobulin
Hypothyroidism, Autoimmune [Supplementary Concept]
Thyroiditis that occurs in Hashimoto Disease and is characterized by Hashimoto struma, thyroid autoantibodies, an abnormal small iodinated protein in patient's serum, and a thyroid BASEMENT MEMBRANE defect. OMIM: 140300
Jung Wolff Back Stahl syndrome [Supplementary Concept]