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Thyroid dysgenesis and the dysplasia hypothesis in tuberous sclerosis

โœ Scribed by Bereket, Abdullah ;Wilson, Thomas A.

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
250 KB
Volume
47
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Thyroid dysfunction is rare in tuberous sclerosis, although papillary adenomas (hamartomas) of the thyroid gland have been reported in a few autopsy cases. We describe a child with tuberous sclerosis and primary congenital hypothyroidism secondary to a dysgenetic thyroid gland. To our knowledge, this association has not been reported previously. Although the association of these two disorders in one patient may be merely coincidence, we speculate that the dysgenetic thyroid gland in this patient may represent a "hamartia" as a consequence of the tuberous sclerosis gene. O 1993 Wiley-Liss, Inc.

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Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16
โœ Kit-Sing Au; Joseph A. Rodriguez; Estanislado Rodriguez Jr.; William B. Dobyns; ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 240 KB ๐Ÿ‘ 1 views

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder of benign tumor formation, hamartomata, and hamartias. TSC has been shown to be genetically heterogeneous, with one causative gene mapping to chromosome 9q (denoted TSC1) and at least one other gene on chromosome 16p (denoted TSC2).