Abstract:
BACKGROUND:Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. This leads to accumulation of plant-derived cholesterol-like molecules in blood and tissues. CASE:We describe a family of Bangladesh origin, where three siblings (two males and one female) have homozygous mutations for phytosterolaemia, and exhibit short stature and adrenal failure with the female having ovarian failure. FINDINGS:The index case (18-year-old female) and her sibling (16 years) have adrenal insufficiency with hyperpigmentation and raised levels of ACTH, at 367 and 690 ng/l respectively. The youngest child at 7 years has normal adrenal function. In addition, the index case has ovarian failure and sibling 2 has partial growth hormone deficiency. CONCLUSION:Although short stature is a recognised phenomenon, no previous association has been made between phytosterolaemia and other endocrine abnormalities. We postulate that the elevated plant sterol levels in phytosterolaemia may interfere with endocrine hormone synthesis; in particular, we present evidence that adrenal cholesterol metabolism may be preferentially affected, accounting for the adrenal insufficiency.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Mushtaq T,Wales JK,Wright NPdoi
10.1530/EJE-07-0222subject
Has Abstractpub_date
2007-08-01 00:00:00pages
S61-5eissn
0804-4643issn
1479-683Xpii
157/suppl_1/S61journal_volume
157 Suppl 1pub_type
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470485
更新日期:2002-10-01 00:00:00
abstract::Context Abnormalities in the hypothalamo-pituitary-gonadal axis have long been reported in Noonan syndrome (NS) males with only few data available in prepubertal children. Objective The aim of this study was to describe the gonadal function of NS males from childhood to adulthood. Design It is a retrospective chart re...
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doi:10.1530/EJE-18-0582
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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更新日期:1995-02-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-0864
更新日期:2015-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0639
更新日期:2009-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360330
更新日期:1997-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1340201
更新日期:1996-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1410585
更新日期:1999-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2018-10-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-0590
更新日期:2014-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420195
更新日期:2000-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1430047
更新日期:2000-07-01 00:00:00
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pub_type: 杂志文章,多中心研究
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更新日期:2018-05-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0464
更新日期:2015-10-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300065
更新日期:1994-01-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0658
更新日期:2019-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,多中心研究
doi:10.1530/EJE-10-0602
更新日期:2010-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1480301
更新日期:2003-03-01 00:00:00
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更新日期:2012-05-01 00:00:00
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更新日期:2012-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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更新日期:2016-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-20-0184
更新日期:2020-09-01 00:00:00
abstract:INTRODUCTION:In an animal model of acromegaly (PEPCK-hGH transgenic mice), low systemic levels of ghrelin have been observed compared with normal mice. We hypothesized that systemic circulating ghrelin levels are also decreased in humans with active acromegaly and that the contribution of central ghrelin production to ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1470195
更新日期:2002-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0662
更新日期:2012-02-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.151u151
更新日期:2004-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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更新日期:2014-03-08 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
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更新日期:2013-05-10 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-1070
更新日期:2014-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1460729
更新日期:2002-05-01 00:00:00