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.
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BLIZZARD RM et al. (1960) Maternal autoimmunization to thyroid as a probable cause of athyrotic cretinism. |
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None (1974) Glandular end organ deficiency associated with secretion of biologically inactive pituitary peptides. |
3. |
Mitnick M et al. (1972) Enzymatic synthesis of thyrotropin releasing hormone (TRH) by hypothalamic "TRH synthetase". |
4. |
Pittman JA et al. (1971) Hypothalamic hypothyroidism. |
5. |
Zisman E et al. (1969) Studies in pseudohypoparathyroidism. Two new cases with a probable selective deficiency of thyrotropin. |
6. |
Sawin CT et al. (1966) Isolated lack of thyrotropin in man. |
7. |
Nygren A et al. (1982) Isolated thyrotropin deficiency in a man with narcoleptic attacks. |
8. |
Kohno H et al. (1980) Pituitary cretinism in two sisters. |
9. |
De Felice M et al. (2004) Thyroid development and its disorders: genetics and molecular mechanisms. |
10. |
Grabow JD et al. (1968) Thyrotropin hormone deficiency with a peripheral neuropathy. |
11. |
SUTHERLAND JM et al. (1960) Familial nongoitrous cretinism apparently due to maternal antithyroid antibody. Report of a family. |
12. |
SHEPARD TH et al. (1960) Increased incidence of non-tasters of phenylthiocarbamide among congenital athyreotic cretins. |
13. |
None (1962) The role of thyroid dysgenesis and maldescent in the etiology of sporadic cretinism. |
14. |
NAJJAR SS et al. (1965) THE KOCHER-DEBR'E-S'EM'ELAIGNE SYNDROME; HYPOTHYROIDISM WITH MUSCULAR "HYPERTROPHY". |
15. |
AINGER LE et al. (1955) Familial athyreotic cretinism: report of 3 cases. |
16. |
Castanet M et al. (2005) Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes. |
17. |
None (1961) PHENYLTHIOCARBAMIDE NON-TASTING AMONG CONGENITAL ATHYROTIC CRETINS: FURTHER STUDIES IN AN ATTEMPT TO EXPLAIN THE INCREASED INCIDENCE. |
18. |
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. |
19. |
Miyai K et al. (1971) Familial isolated thyrotropin deficiency with cretinism. |
20. |
Illig R et al. (1975) Elevated plasma TSH and hypothyroidism in children with hypothalamic hypopituitarism. |
21. |
Petersen VB et al. (1978) The secretion of thyrotrophin with impaired biological activity in patients with hypothalamic-pituitary disease. |
22. |
Faglia G et al. (1979) Thyrotropin secretion in patients with central hypothyroidism: evidence for reduced biological activity of immunoreactive thyrotropin. |
23. |
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. |
24. |
Brumm H et al. (2002) Congenital central hypothyroidism due to homozygous thyrotropin beta 313 Delta T mutation is caused by a Founder effect. |
25. |
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. |
26. |
Vuissoz JM et al. (2001) New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism. |
28. |
Doeker BM et al. (1998) Congenital central hypothyroidism due to a homozygous mutation in the thyrotropin beta-subunit gene follows an autosomal recessive inheritance. |
29. |
Medeiros-Neto G et al. (1996) A circulating, biologically inactive thyrotropin caused by a mutation in the beta subunit gene. |
30. |
Hayashizaki Y et al. (1989) Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. |
31. |
Dacou-Voutetakis C et al. (1990) Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. |
32. |
Park SM et al. (2005) Genetics of congenital hypothyroidism. |
33. |
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. |