Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nongoitrous hypothyroidism

Congenital nongoitrous hypothyroidism is a group of disorders in which hypothyroidism is caused by disturbances of thyroid development. Tthe level of TSH is characteristically hight.

Systematic

Hypothyroidism
Bamforth-Lazarus syndrome
Central hypothyroidism
Choreoathetosis with hypothyroidism and neonatal respiratory distress
Congenital nongoitrous hypothyroidism
Congenital nongoitrous hypothyroidism 1
TSHR
Congenital nongoitrous hypothyroidism 2
PAX8
Congenital nongoitrous hypothyroidism 3
Congenital nongoitrous hypothyroidism 4
TSHB
Congenital nongoitrous hypothyroidism 5
NKX2-5
Congenital nongoitrous hypothyroidism 6
THRA
Neonatal diabetes mellitus with congenital hypothyroidism
Thyroid dyshormonogenesis

References:

1.

Meeus L et. al. (2004) Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid.

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2.

Grasberger H et. al. (2005) Thyroid transcription factor 1 rescues PAX8/p300 synergism impaired by a natural PAX8 paired domain mutation with dominant negative activity.

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3.

Park SM et. al. (2005) Genetics of congenital hypothyroidism.

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4.

Dacou-Voutetakis C et. al. (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene.

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5.

Hayashizaki Y et. al. (1989) Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit.

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6.

Medeiros-Neto G et. al. (1996) A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene.

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7.

Doeker BM et. al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance.

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8.

Bonomi M et. al. (2001) Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene.

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9.

Vuissoz JM et. al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

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10.

Pohlenz J et. al. (2002) Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit gene.

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11.

Brumm H et. al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect.

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12.

Borck G et. al. (2004) Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.

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13.

Faglia G et. al. (1979) Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin.

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14.

Petersen VB et. al. (1978) The secretion of thyrotrophin with impaired biological activity in patients with hypothalamic-pituitary disease.

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15.

Illig R et. al. (1975) Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism.

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16.

Miyai K et. al. (1971) Familial isolated thyrotropin deficiency with cretinism.

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17.

Grabow JD et. al. (1968) Thyrotropin hormone deficiency with a peripheral neuropathy.

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18.

None (1974) Glandular end organ deficiency associated with secretion of biologically inactive pituitary peptides.

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19.

Mitnick M et. al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase".

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20.

Pittman JA et. al. (1971) Hypothalamic hypothyroidism.

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21.

Zisman E et. al. (1969) Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin.

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22.

Sawin CT et. al. (1966) Isolated lack of thyrotropin in man.

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23.

Nygren A et. al. (1982) Isolated thyrotropin deficiency in a man with narcoleptic attacks.

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24.

Kohno H et. al. (1980) Pituitary cretinism in two sisters.

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25.

De Felice M et. al. (2004) Thyroid development and its disorders: genetics and molecular mechanisms.

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26.

BLIZZARD RM et. al. (1960) Maternal autoimmunization to thyroid as a probable cause of athyrotic cretinism.

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27.

SUTHERLAND JM et. al. (1960) Familial nongoitrous cretinism apparently due to maternal antithyroid antibody. Report of a family.

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28.

SHEPARD TH et. al. (1960) Increased incidence of non-tasters of phenylthiocarbamide among congenital athyreotic cretins.

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29.

None (1962) The role of thyroid dysgenesis and maldescent in the etiology of sporadic cretinism.

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30.

NAJJAR SS et. al. (1965) THE KOCHER-DEBR'E-S'EM'ELAIGNE SYNDROME; HYPOTHYROIDISM WITH MUSCULAR "HYPERTROPHY".

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31.

AINGER LE et. al. (1955) Familial athyreotic cretinism: report of 3 cases.

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32.

Castanet M et. al. (2005) Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.

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33.

None (1961) PHENYLTHIOCARBAMIDE NON-TASTING AMONG CONGENITAL ATHYROTIC CRETINS: FURTHER STUDIES IN AN ATTEMPT TO EXPLAIN THE INCREASED INCIDENCE.

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Update: Sept. 26, 2018