Abstract:
:Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction caused by deposition of hyaline-like material in endocrine glands. We investigated a 13 year old patient with LP (507 delT mutation) who had severe short stature. He had hoarseness since the age of one year, followed by characteristic skin lesions for LP and short stature. There was no pathology with respect to endocrinological investigations in our patient including growth hormone-IGF axis. Our results show that short stature in LP can not be explained by endocrinological abnormalities. Short stature may be an intrinsic component of the syndrome.
journal_name
J Clin Res Pediatr Endocrinoljournal_title
Journal of clinical research in pediatric endocrinologyauthors
Poyrazoğlu Ş,Günöz H,Darendeliler Fdoi
10.4008/jcrpe.v1i2.31subject
Has Abstractpub_date
2008-01-01 00:00:00pages
97-101issue
2eissn
1308-5727issn
1308-5735journal_volume
1pub_type
杂志文章abstract::Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors. The clinical presentation of pediatric PPGLs is highly variable. In cases with pheochromocytoma (PCC), excess catecholamine may stimulate myocytes and cause structural changes, leading to life-threatening complications ranging from stress car...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0045
更新日期:2020-06-03 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1818
更新日期:2015-06-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.v1i4.39
更新日期:2009-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
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doi:10.4274/Jcrpe.1454
更新日期:2014-09-01 00:00:00
abstract::Peutz-Jeghers syndrome (PJS) is inherited as an autosomal dominant trait characterized by multiple gastrointestinal hamartomatous polyps, mucocutaneous pigmentation, and an increased risk of neoplasm. Large-cell calcifying Sertoli cell tumor (LCCSCT) is a kind of sex cord-stromal tumor which may co-exist with PJS and ...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3625
更新日期:2017-06-01 00:00:00
abstract:Objective:Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals. Methods:The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 th...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0009
更新日期:2020-11-25 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.524
更新日期:2012-06-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i1.05
更新日期:2011-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.2295
更新日期:2015-12-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
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更新日期:2011-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.958
更新日期:2013-09-10 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,评审
doi:10.4274/jcrpe.2017.S002
更新日期:2017-12-30 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.2017
更新日期:2015-09-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0098
更新日期:2020-06-03 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.831
更新日期:2012-12-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v2i4.176
更新日期:2010-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.S0003
更新日期:2020-02-06 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 临床试验,杂志文章
doi:10.4274/jcrpe.3557
更新日期:2017-03-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章,多中心研究
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更新日期:2016-09-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
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更新日期:2018-07-31 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4577
更新日期:2017-12-15 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2020.2020.0249
更新日期:2021-01-04 00:00:00
abstract:OBJECTIVE:Papillary thyroid cancer (PTC) may behave differently in prepubertal children as compared to pubertal children and adults. BRAF gene activating mutations may associate with PTC by creating aberrant activation. We aimed to evaluate the clinicopathological characteristics of PTC patients with emphasis on the pu...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.3873
更新日期:2017-09-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/Jcrpe.896
更新日期:2013-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.galenos.2019.2019.0041
更新日期:2020-03-19 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1917
更新日期:2015-09-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i3.30
更新日期:2011-01-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.4817
更新日期:2018-03-01 00:00:00
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journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.v3i2.20
更新日期:2011-01-01 00:00:00
abstract::Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the severe diazoxide-unresponsive CHI. Ora...
journal_title:Journal of clinical research in pediatric endocrinology
pub_type: 杂志文章
doi:10.4274/jcrpe.1978
更新日期:2015-06-01 00:00:00