Abstract:
Background:Autosomal dominant neurohypophyseal diabetes insipidus (adNDI) is caused by arginine vasopressin (AVP) deficiency resulting from mutations in the AVP-NPII gene encoding the AVP preprohormone. Aim:To describe the clinical and molecular features of Italian unrelated families with central diabetes insipidus. Patients and methods:We analyzed AVP-NPII gene in 13 families in whom diabetes insipidus appeared to be segregating. Results:Twenty-two patients were found to carry a pathogenic AVP-NPII gene mutation. Two novel c.173 G>C (p.Cys58Ser) and c.215 C>A (p.Ala72Glu) missense mutations and additional eight different mutations previously described were identified; nine were missense and one non-sense mutation. Most mutations (eight out of ten) occurred in the region encoding for the NPII moiety; two mutations were detected in exon 1. No mutations were found in exon 3. Median age of onset was 32.5 months with a variability within the same mutation (3 to 360 months). No clear genotype-phenotype correlation has been observed, except for the c.55 G>A (p.Ala19Thr) mutation, which led to a later onset of disease (median age 120 months). Brain magnetic resonance imaging (MRI) revealed the absence of posterior pituitary hyperintensity in 8 out of 15 subjects, hypointense signal in 4 and normal signal in 2. Follow-up MRI showed the disappearance of the posterior pituitary hyperintensity after 6 years in one case. Conclusion:adNDI is a progressive disease with a variable age of onset. Molecular diagnosis and counseling should be provided to avoid unnecessary investigations and to ensure an early and adequate treatment.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Patti G,Scianguetta S,Roberti D,Di Mascio A,Balsamo A,Brugnara M,Cappa M,Casale M,Cavarzere P,Cipriani S,Corbetta S,Gaudino R,Iughetti L,Martini L,Napoli F,Peri A,Salerno MC,Salerno R,Passeri E,Maghnie M,Perrottadoi
10.1530/EJE-19-0299subject
Has Abstractpub_date
2019-09-01 00:00:00pages
233-244issue
3eissn
0804-4643issn
1479-683Xpii
EJE-19-0299.R2journal_volume
181pub_type
杂志文章abstract:OBJECTIVE:Very few previous studies have compared the degree of health-related quality of life (HRQL), depression and anxiety of differentiated thyroid cancer patients (DTC) under short-term hypothyroid-ism and levothyroxine treatment. METHODS:Using patient-completed instruments, we examined the frequency of physical ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02047
更新日期:2005-12-01 00:00:00
abstract:OBJECTIVES:Many reports demonstrate improvements in cardiovascular risk factors during GH replacement (rhGH) in adult GH deficiency (GHD). However, it remains to be determined to what extent these changes translate into a reduction of increased cardiovascular morbidity and mortality. The aim of this study was to evalua...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-06-0699
更新日期:2007-04-01 00:00:00
abstract::We report on a 15-year-old girl who had presented with acute onset central diabetes insipidus at the age of 8 years; this was followed by growth failure due to acquired growth hormone deficiency. Initial magnetic resonance imaging showed a uniformly enlarged pituitary stalk and absence of posterior pituitary hyperinte...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1390635
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVES:Gel filtration chromatography (GFC), the gold standard for macroprolactinaemia (MPRL) diagnosis, is a slow, costly and labour-intensive method. To limit the number of GFC required, we evaluated two screening tests for MPRL: prolactin (PRL) recovery after polyethylene glycol (PEG) precipitation and PRL concen...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-1073
更新日期:2015-06-01 00:00:00
abstract:OBJECTIVE:Thyroid hormone resistance (RTH) is characterised by variable tissue hyporesponsiveness to thyroid hormone. The disorder is usually caused by mutations in the thyroid hormone receptor beta (TR beta). We describe a large family with this disorder. SUBJECTS AND MEASUREMENT: We identified 36 family members with ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1500425
更新日期:2004-04-01 00:00:00
abstract::Deflazacort is an oxazoline derivative of cortisone with presumably less serious side effects, but its effects on growth factors are unknown. The present experiments in Long Evans rats were carried out to investigate how deflazacort administration affected the growing rat, especially in relation to hepatic insulin-lik...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1310652
更新日期:1994-12-01 00:00:00
abstract:OBJECTIVE:In inflammatory bowel diseases, increased serum interleukin (IL)-6 levels are associated with high serum insulin-like growth factor-binding protein 2 (IGFBP-2) levels, and cytokines modify the insulin-like growth factor (IGF)/IGFBP system in models in vitro. In cystic fibrosis (CF) the IGF/IGFBP system has no...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02064
更新日期:2006-01-01 00:00:00
abstract::Ipilimumab (Yervoy; Medarex and Bristol-Myers Squibb) is a human MAB against cytotoxic T-lymphocyte antigen 4, which enhances co-stimulation of cytotoxic T-lymphocytes, resulting in their proliferation and an anti-tumour response. It is licensed for the treatment of unresectable or metastatic malignant melanoma, while...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-12-0167
更新日期:2012-07-01 00:00:00
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journal_title:European journal of endocrinology
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更新日期:2014-08-01 00:00:00
abstract:OBJECTIVE:To evaluate the efficacy and safety of coadministered lanreotide Autogel (LA; 120 mg/month) and pegvisomant (40-120 mg/week) in acromegaly. DESIGN:This is a 28-week, multicenter, open-label, single-arm sequential study. METHODS:Patients (n=92) biochemically uncontrolled, on somatostatin analogs (SSAs) or ...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/EJE-10-0867
更新日期:2011-03-01 00:00:00
abstract:BACKGROUND:Elevated levels of circulating fibroblast growth factor 21 (FGF21) are commonly encountered in type 2 diabetes, dyslipidemia, and non-alcoholic fatty liver disease, all of which share exaggerated postprandial lipemia as a common proatherogenic feature. How FGF21 responds to an oral fat load in man is unknown...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0783
更新日期:2012-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/EJE-18-0901
更新日期:2019-07-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0521
更新日期:2012-12-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.151s023
更新日期:2004-08-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1530/eje.0.1430577
更新日期:2000-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0579
更新日期:2009-12-01 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-17-1006
更新日期:2018-03-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0173
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,随机对照试验
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更新日期:2007-03-01 00:00:00
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journal_title:European journal of endocrinology
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更新日期:2001-10-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
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更新日期:2017-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1440139
更新日期:2001-02-01 00:00:00
abstract:BACKGROUND:In men, the feedback of gonadotropins is regulated by estrogens that come from the aromatization of testosterone, but the relative contribution to the inhibition of LH and FSH secretion by the amount of locally produced estrogens within the hypothalamus and/or the pituitary, and the amount of circulating est...
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pub_type: 杂志文章
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更新日期:2006-10-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0234
更新日期:2009-10-01 00:00:00
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pub_type: 杂志文章
doi:10.1530/eje.0.1480559
更新日期:2003-05-01 00:00:00
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pub_type: 杂志文章
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更新日期:2009-11-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330071
更新日期:1995-07-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1380562
更新日期:1998-05-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02178
更新日期:2006-07-01 00:00:00
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journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1320144
更新日期:1995-02-01 00:00:00