HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: ERC-08-0142v1 16/1/45    most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Dworakowska, D. Articles by Grossman, A. B Search for Related Content PubMed PubMed Citation Articles by Dworakowska, D. Articles by Grossman, A. B

¹ Barts and the London School of Medicine, Centre for Endocrinology, London EC1M 6BQ, UK² Department of Endocrinology and Internal Medicine, Medical University of Gdask, 7 Dbinki Street, Gdask 80-211, Poland

(Correspondence should be addressed to A B Grossman, Department of Endocrinology, St Bartholomew's Hospital, 5th Floor King George V Building, West Smithfield, London EC1A 7BE, UK; Email: a.b.grossman{at}qmul.ac.uk)

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterised by the development of multiple hamartomas in numerous organs. It is caused by mutations of two tumour suppressor genes, TSC1 on chromosome 9q34 and TSC2 on chromosome 16p13.3, which encode for hamartin and tuberin respectively. The interaction between these two proteins, the tuberin–hamartin complex, has been shown to be critical to multiple intracellular signalling pathways, especially those controlling cell growth and proliferation. TSC may affect skin, central nervous system, kidneys, heart, eyes, blood vessels, lung, bone and gastrointestinal tract. Small series and case reports have documented that in tuberous sclerosis patients many endocrine system alterations might occur, affecting the function of the pituitary, parathyroid and other neuroendocrine tissue. There have been scattered reports of the involvement of such tissue in the pathological process of TSC, but no systematic review as to whether this is a true association. We have therefore systematically assessed all available published literature in this area. We conclude that there may be an association with pituitary and parathyroid tumours, and two recent descriptions of Cushing's disease are especially intriguing. However, the evidence seems more firm in the case of islet cell tumours, particularly insulinomas. As these latter may cause changes in mental state that may be confused with the cerebral manifestations of TSC per se, it is particularly important for physicians working with these patients to be aware of the putative and indeed likely association.

This article has been cited by other articles:

				D Dworakowska, E Wlodek, C A Leontiou, S Igreja, M Cakir, M Teng, N Prodromou, M I Goth, S Grozinsky-Glasberg, M Gueorguiev, et al. Activation of RAF/MEK/ERK and PI3K/AKT/mTOR pathways in pituitary adenomas and their effects on downstream effectors Endocr. Relat. Cancer, December 1, 2009; 16(4): 1329 - 1338. [Abstract] [Full Text] [PDF]