Abstract:
CONTEXT:Steroidogenic acute regulatory (STAR) gene mutations lead to adrenal and gonadal failure. Interesting, though as yet unexplained, features are the formation of ovarian cysts and the potential presence of CNS findings. OBJECTIVE:To report biochemical, genetic, and long-term clinical data in five Greek patients from four different families with STAR gene defects (three 46,XX and two 46,XY). METHODS AND RESULTS:All patients presented in early infancy with adrenal insufficiency. The STAR gene mutation c.834del11bp, detected in three of our patients, completely alters the carboxyl end of the STAR protein and has not thus far been described in other population groups. These three patients belong to three separate families, possibly genetically related, as they live in different villages located in a small region of a Greek island. However, their interrelationship has not been proven. A second mutation, p.W250X, detected in our fourth family, was previously described only in two Serbian patients. Ovarian cysts were detected ultrasonographically in our 46,XX patients and seemed to respond to a low dose of a contraceptive. The histology of an excised ovarian cyst was diagnosed as a corpus luteum (CL) cyst. In two out of the four patients who had undergone brain magnetic resonance imaging, asymptomatic Chiari-1 malformation was observed. CONCLUSIONS:The occurrence of STAR gene mutation c.834del11bp in three families living in a restricted geographic region could indicate either a founder effect or simply reflect a spread of this defect in a highly related population. The ovarian histological findings suggest that ovarian cysts detected ultrasonographically in 46,XX individuals with STAR gene defects may be CL cysts. The Chiari-1 malformation in two of our patients may be part of the STAR gene mutation phenotype. Nevertheless, more data are needed to confirm or disprove the existence of specific CNS pathology in patients with STAR gene mutations.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Sertedaki A,Dracopoulou M,Voutetakis A,Stefanaki K,Rontogianni D,Magiakou AM,Kanaka-Gantenbein C,Chrousos G,Dacou-Voutetakis Cdoi
10.1530/EJE-12-0600subject
Has Abstractpub_date
2013-02-15 00:00:00pages
351-9issue
3eissn
0804-4643issn
1479-683Xpii
EJE-12-0600journal_volume
168pub_type
杂志文章abstract:BACKGROUND:A limited number of mutations in the GH secretagogue receptor gene (GHSR) have been described in patients with short stature. Objective To analyze GHSR in idiopathic short stature (ISS) children including a subgroup of constitutional delay of growth and puberty (CDGP) patients. SUBJECTS AND METHODS:The GHSR...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0168
更新日期:2011-08-01 00:00:00
abstract::Endocrine complications are frequently observed in childhood cancer survivors (CCS). One of two CCS will experience at least one endocrine complication during the course of his/her lifespan, most commonly as a late-effect of cancer treatments, especially radiotherapy and alkylating agent chemotherapy. Endocrine late-e...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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更新日期:2017-04-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1420445
更新日期:2000-05-01 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: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.0.1370040
更新日期:1997-07-01 00:00:00
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doi:10.1530/eje.0.1360649
更新日期:1997-06-01 00:00:00
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pub_type: 杂志文章,评审
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pub_type: 杂志文章
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更新日期:1994-07-01 00:00:00
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doi:10.1530/EJE-20-1224
更新日期:2021-01-01 00:00:00
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doi:10.1530/eje.0.1360493
更新日期:1997-05-01 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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pub_type: 杂志文章,随机对照试验
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更新日期:2018-08-01 00:00:00
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doi:10.1530/eje.0.1460209
更新日期:2002-02-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/EJE-09-0202
更新日期:2009-07-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1510539
更新日期:2004-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:1996-10-01 00:00:00
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pub_type: 杂志文章
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更新日期:2013-03-15 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1530/eje.0.1480481
更新日期:2003-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1310582
更新日期:1994-12-01 00:00:00
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pub_type: 杂志文章
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更新日期:2013-02-20 00:00:00
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pub_type: 杂志文章
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更新日期:2004-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/EJE-11-0914
更新日期:2012-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2016-09-01 00:00:00
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pub_type: 杂志文章
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更新日期:1996-02-01 00:00:00
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更新日期:2010-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2007-06-01 00:00:00
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更新日期:1996-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:1998-10-01 00:00:00