Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Congenital nongoitrous hypothyroidism 2

Congenital nongoitrous hypothyroidism 2 is an autosomal dominant disorder caused by mutations of the PAX8 gene.

Systematic

Congenital nongoitrous hypothyroidism
Congenital nongoitrous hypothyroidism 1
Congenital nongoitrous hypothyroidism 2
PAX8
Congenital nongoitrous hypothyroidism 3
Congenital nongoitrous hypothyroidism 4
Congenital nongoitrous hypothyroidism 5
Congenital nongoitrous hypothyroidism 6

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.

[^]
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.

[^]
3.

Macchia PE et al. (1998) PAX8 mutations associated with congenital hypothyroidism caused by thyroid dysgenesis.

[^]
4.

Vilain C et al. (2001) Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.

[^]
5.

Congdon T et al. (2001) A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.

[^]
6.

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

[^]
7.

Clifton-Bligh RJ et al. (1998) Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia.

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

Kaplan M et al. (1978) Ectopic thyroid gland. A clinical study of 30 children and review.

[^]
18.

Donegan JO et al. (1985) Intratracheal thyroid--familial occurrence.

[^]
19.

Little G et al. (1965) "Cryptothyroidism", the major cause of sporadic "athyreotic" cretinism.

[^]
20.

Cross HE et al. (1968) Familial agoitrous cretinism accompanied by musclar hypertrophy.

[^]
21.

Greig WR et al. (1966) Thyroid dysgenesis in two pairs of monozygotic twins and in a mother and child.

[^]
22.

None (1983) Second International Conference on Neonatal Thyroid Screening: progress report.

[^]
23.

Brown AL et al. (1981) Racial differences in the incidence of congenital hypothyroidism.

[^]
24.

Goujard J et al. (1981) [Epidemiology of hypothyroidism due to congenital malformation of the gland: athyreosis or ectopic thyroid (author's transl)].

[^]
25.

Rosenberg T et al. (1980) Familial thyroid ectopy and hemiagenesis.

[^]
26.

None (1993) Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia.

[^]
27.

Lapi P et al. (1997) Mutations in the gene encoding thyroid transcription factor-1 (TTF-1) are not a frequent cause of congenital hypothyroidism (CH) with thyroid dysgenesis.

[^]
28.

Castanet M et al. (2000) Familial forms of thyroid dysgenesis among infants with congenital hypothyroidism.

[^]
29.

Castanet M et al. (2001) Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors.

[^]
30.

Léger J et al. (2002) Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism.

[^]
31.

Perry R et al. (2002) Discordance of monozygotic twins for thyroid dysgenesis: implications for screening and for molecular pathophysiology.

[^]
32.

CHILDS B et al. (1954) Etiologic factors cases.

[^]
33.

None (1961) Cretinism and taste sensitivity to phenylthiocarbamide.

[^]
34.

OMIM.ORG article

Omim 218700 [^]
Update: April 29, 2019