当前位置： SCI文献检索 > EUROPEAN JOURNAL OF ENDOCRINOLOGY期刊下所有文献 > The clinical, pathological, and genetic features of familial isolated pituitary adenomas.

The clinical, pathological, and genetic features of familial isolated pituitary adenomas.

Abstract：

:Pituitary adenomas occur in a familial setting in multiple endocrine neoplasia type 1 (MEN1) and Carney's complex (CNC), which occur due to mutations in the genes MEN1 and PRKAR1A respectively. Isolated familial somatotropinoma (IFS) is also a well-described clinical syndrome related only to patients with acrogigantism. Pituitary adenomas of all types--not limited to IFS--can occur in a familial setting in the absence of MEN1 and CNC; this phenotype is termed familial isolated pituitary adenomas (FIPA). Over the past 7 years, we have described over 90 FIPA kindreds. In FIPA, both homogeneous and heterogeneous pituitary adenoma phenotypes can occur within families; virtually all FIPA kindreds contain at least one prolactinoma or somatotropinoma. FIPA differs from MEN1 in terms of a lower proportion of prolactinomas and more frequent somatotropinomas in the FIPA cohort. Patients with FIPA are significantly younger at diagnosis and have significantly larger pituitary adenomas than matched sporadic pituitary adenoma counterparts. A minority of FIPA families overall (15%) exhibit mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene; AIP mutations are present in only half of IFS kindreds occurring as part of the FIPA cohort. In families with AIP mutations, pituitary adenomas have a penetrance of over 50%. AIP mutations are extremely rare in patients with sporadic pituitary adenomas. This review deals with pituitary adenomas that occur in a familial setting, describes in detail the clinical, pathological, and genetic features of FIPA, and addresses aspects of the clinical approach to FIPA families with and without AIP mutations.

journal_name

Eur J Endocrinol

journal_title

European journal of endocrinology

authors

Beckers A,Daly AF

doi

10.1530/EJE-07-0348

subject

Has Abstract

pub_date

2007-10-01 00:00:00

pages

371-82

issue

4

eissn

0804-4643

issn

1479-683X

pii

157/4/371

journal_volume

157

pub_type

杂志文章,评审

相关文献

EUROPEAN JOURNAL OF ENDOCRINOLOGY文献大全
  • Serum levels of 3alpha-androstanediol glucuronide in hirsute and non hirsute women.

    abstract：:This study has evaluated the behaviour of 3alpha-androstanediol glucuronide (3alpha-diol G) in 170 women of whom 85 had polycystic ovary syndrome (PCOS), 35 had idiopathic hirsutism (IH) and 50 had regular cycles (control group). Of the women with PCOS, 45 were hirsute (PCOS-H) and 40 were non hirsute (PCOS-NH). Women...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1380421

    authors： Falsetti L,Rosina B,De Fusco D

    更新日期：1998-04-01 00:00:00

  • Testicular function and fertility in men with Klinefelter syndrome: a review.

    abstract：:Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoos...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-12-0934

    authors： Aksglaede L,Juul A

    更新日期：2013-03-15 00:00:00

  • The relationship between the GH/IGF-I axis and serum markers of bone turnover metabolism in healthy children.

    abstract：CONTEXT:There is evidence to suggest that IGF-I plays a role in regulating bone turnover. OBJECTIVE:To evaluate the relationships between serum concentrations of IGF-I and IGF-binding protein-3 (IGFBP-3), and bone metabolism markers in healthy children. DESIGN AND SETTING:Prospective cross-sectional study. SUBJECTS ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0402

    authors： Léger J,Mercat I,Alberti C,Chevenne D,Armoogum P,Tichet J,Czernichow P

    更新日期：2007-11-01 00:00:00

  • Gamma knife radiosurgery is a successful adjunctive treatment in Cushing's disease.

    abstract：OBJECTIVE:Though transsphenoidal surgery remains the first-line treatment of Cushing's disease, recurrence occurs frequently. Conventional radiotherapy and anticortisolic drugs both have adverse effects. Stereotactic radiosurgery needs to be evaluated more precisely. The aim of this study was to determine long-term hor...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02323

    authors： Castinetti F,Nagai M,Dufour H,Kuhn JM,Morange I,Jaquet P,Conte-Devolx B,Regis J,Brue T

    更新日期：2007-01-01 00:00:00

  • The prevalence of anti-thyroid peroxidase antibodies and autoimmune thyroiditis in children and adolescents in an iodine replete area.

    abstract：BACKGROUND:The iodine supply of the population in Berlin has normalized during the last 5 Years. Therefore autoimmune thyroiditis has become the most important differential diagnosis in children and adolescents with goiter. OBJECTIVE:The aim of the present study was to define the prevalence of anti-thyroid peroxidase ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1480301

    authors： Kabelitz M,Liesenkötter KP,Stach B,Willgerodt H,Stäblein W,Singendonk W,Jäger-Roman E,Litzenbörger H,Ehnert B,Grüters A

    更新日期：2003-03-01 00:00:00

  • Increased prevalence of polycystic ovary syndrome in premenopausal women with nonalcoholic fatty liver disease.

    abstract：OBJECTIVE:Limited data exist concerning the presence of polycystic ovary syndrome (PCOS) in premenopausal women with nonalcoholic fatty liver disease (NAFLD). We aimed to investigate the prevalence of PCOS in overweight and obese premenopausal women with NAFLD. DESIGN:Prospective, observational, and cross-sectional st...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-15-0567

    authors： Vassilatou E,Vassiliadi DA,Salambasis K,Lazaridou H,Koutsomitopoulos N,Kelekis N,Kassanos D,Hadjidakis D,Dimitriadis G

    更新日期：2015-12-01 00:00:00

  • Pharmacokinetics and tolerability of a bioadhesive buccal testosterone tablet in hypogonadal men.

    abstract：OBJECTIVE:A phase I single centre, open label study of the pharmacokinetics and tolerability of a buccal testosterone tablet (COL 1621) was carried out. DESIGN:Twelve testosterone-deficient males were treated with the buccal tablet twice daily for 7 consecutive days. Multiple blood samples were drawn for testosterone,...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/eje.0.1500057

    authors： Ross RJ,Jabbar A,Jones TH,Roberts B,Dunkley K,Hall J,Long A,Levine H,Cullen DR

    更新日期：2004-01-01 00:00:00

  • Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.

    abstract：Background:Hypophosphataemic rickets (HR) comprise a clinically and genetically heterogeneous group of conditions, defined by renal-tubular phosphate wasting and consecutive loss of bone mineralisation. X-linked hypophosphataemia (XLH) is the most common form, caused by inactivating dominant mutations in PHEX, a gene e...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-20-0275

    authors： Thiele S,Werner R,Stubbe A,Hiort O,Hoeppner W

    更新日期：2020-11-01 00:00:00

  • Effects of growth hormone overproduction on grip strength of transgenic mice.

    abstract：:Growth hormone (GH) is used by athletes like bodybuilders to increase muscle strength and weight gain. On the other hand, chronic hypersecretion of GH in active acromegaly may result in outwardly hypertrophied but functionally weaker muscles. As a model for studying long-term effects of GH on muscle strength, we analy...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1330735

    authors： Wolf E,Wanke R,Schenck E,Hermanns W,Brem G

    更新日期：1995-12-01 00:00:00

  • Prognostic relevance of proliferation-related miRNAs in pancreatic neuroendocrine neoplasms

    abstract：Objective:Pancreatic neuroendocrine neoplasms (PanNENs) are rare tumors arising from the endocrine pancreas; however, their prognosis differs significantly upon their proliferative state, which is characterized by histopathological grading. MiRNAs are small, noncoding RNAs posttranscriptionally regulating gene expressi...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-18-0305

    authors： Grolmusz VK,Kövesdi A,Borks K,Igaz P,Patócs A

    更新日期：2018-10-01 00:00:00

  • Elevated plasma levels of SPARC in patients with newly diagnosed type 2 diabetes mellitus.

    abstract：OBJECTIVE:Secreted protein acidic and rich in cysteine (SPARC) also known as BM-40 which has been studied in various pathological conditions, has recently been suggested as a key player in the pathology of obesity and type 2 diabetes mellitus (T2DM). However, there are few studies on putative pathophysiologic roles of ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0131

    authors： Wu D,Li L,Yang M,Liu H,Yang G

    更新日期：2011-10-01 00:00:00

  • MANAGEMENT OF ENDOCRINE DISEASE: Predictive scores in autoimmune thyroid disease: are they useful?

    abstract：:Prediction models are of a great assistance for predicting the development of a disease, detecting or screening undiagnosed patients, predicting the effectiveness of a treatment and helping toward better decision-making. Recently, three predictive scores in the field of autoimmune thyroid disease (AITD) have been intr...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-19-0234

    authors： Effraimidis G

    更新日期：2019-09-01 00:00:00

  • Association of HDL-C and apolipoprotein A-I with the risk of type 2 diabetes in subjects with impaired fasting glucose.

    abstract：OBJECTIVES:HDLs have many diverse functions. The goal of this study was to determine the association of HDL cholesterol (HDL-C) and apolipoprotein A-I (apoA-I) with the development of type 2 diabetes (T2D). In particular, this study determined the association between the ratio of HDL-C to apoA-I (HA) and incident T2D. ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-14-0195

    authors： Hwang YC,Ahn HY,Park SW,Park CY

    更新日期：2014-07-01 00:00:00

  • Coadministration of lanreotide Autogel and pegvisomant normalizes IGF1 levels and is well tolerated in patients with acromegaly partially controlled by somatostatin analogs alone.

    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

    authors： van der Lely AJ,Bernabeu I,Cap J,Caron P,Colao A,Marek J,Neggers S,Birman P

    更新日期：2011-03-01 00:00:00

  • Cold exposure inhibits leptin secretion in vitro by a direct and non-specific action on adipose tissue.

    abstract：OBJECTIVE:Leptin secretion is reduced by low temperatures in experimental animals, and this effect has been explained as an adaptive mechanism to cold environments. This study investigated the in vitro effects of cold exposure on human white adipose tissue. DESIGN:To understand whether the low temperature action is a ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1420195

    authors： Peinó R,Piñeiro V,Gualillo O,Menéndez C,Brenlla J,Casabiell X,Diéguez C,Casanueva FF

    更新日期：2000-02-01 00:00:00

  • Polyglandular autoimmune syndromes.

    abstract：:The polyglandular autoimmune syndromes (PAS) comprise a wide spectrum of autoimmune disorders and are divided into a very rare juvenile (PAS type I) and a relatively common adult type with (PAS II) or without adrenal failure (PAS III). First clinical manifestation of PAS I usually occurs in childhood, whereas PAS II m...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-09-0044

    authors： Kahaly GJ

    更新日期：2009-07-01 00:00:00

  • Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.

    abstract：CONTEXT:The late presentation of steroid 5α-reductase-2 (SRD5A2) deficiency in females is poorly characterised. The ratios of 5α/5β-reduced metabolites of adrenal steroids in a urine steroid profile (USP) can give an indication of SRD5A2 deficiency, although the diagnostic cut-off for 5α/5β ratios are not clearly defin...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-10-0930

    authors： Berra M,Williams EL,Muroni B,Creighton SM,Honour JW,Rumsby G,Conway GS

    更新日期：2011-06-01 00:00:00

  • The therapeutic outcome to intravenous steroid therapy for active Graves' orbitopathy is influenced by the time of response but not polymorphisms of the glucocorticoid receptor.

    abstract：BACKGROUND:Glucocorticoids are the mainstay of immunosuppression for active moderate-severe Graves' orbitopathy (GO). AIM:To analyze the response to therapy and the contribution of glucocorticoid receptor (GR) gene polymorphisms to the therapeutic outcome of intravenous glucocorticoids (IVGC) in active moderate-severe...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-13-0611

    authors： Vannucchi G,Covelli D,Campi I,Origo D,Currò N,Cirello V,Dazzi D,Beck-Peccoz P,Salvi M

    更新日期：2013-11-22 00:00:00

  • Contrasts in the gonadotropin-releasing hormone dose-response relationships for luteinizing hormone, follicle-stimulating hormone and alpha-subunit release in young versus older men: appraisal with high-specificity immunoradiometric assay and deconvolutio

    abstract：:The secretion of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) is regulated by gonadotropin-releasing hormone (GnRH). As men age, mean serum concentrations of immunoreactive gonadotropic hormones tend to increase, while serum testosterone concentrations tend to decline. To evaluate age-related change...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1530/eje.0.1350399

    authors： Zwart AD,Urban RJ,Odell WD,Veldhuis JD

    更新日期：1996-10-01 00:00:00

  • Association of hypovitaminosis D with metabolic disturbances in polycystic ovary syndrome.

    abstract：OBJECTIVES:Women with polycystic ovary syndrome (PCOS) frequently suffer from metabolic disturbances, in particular from insulin resistance. Accumulating evidence suggests that vitamin D deficiency may contribute to the development of the metabolic syndrome (MS). Hence, the aim of our study was to investigate the assoc...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-09-0432

    authors： Wehr E,Pilz S,Schweighofer N,Giuliani A,Kopera D,Pieber TR,Obermayer-Pietsch B

    更新日期：2009-10-01 00:00:00

  • Metabolic and endocrine effects of treatment with peroral or transdermal oestrogens in conjunction with peroral cyproterone acetate in women with polycystic ovary syndrome.

    abstract：OBJECTIVE:To compare the influence of transdermal and peroral oestrogen treatments in conjunction with cyproterone acetate (CPA) on metabolic and hormonal parameters in women with polycystic ovary syndrome (PCOS). PATIENTS AND METHODS:Twenty-four women with PCOS, aged 25.4+/-4.3 (mean+/-s.d.) years, body mass index 24...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1530/eje.0.1500215

    authors： Vrbíková J,Stanická S,Dvoráková K,Hill M,Vondra K,Bendlová B,Stárka L

    更新日期：2004-02-01 00:00:00

  • Immunohistochemical detection of GHRH and its receptor splice variant 1 in primary human breast cancers.

    abstract：OBJECTIVE:GHRH is secreted by the hypothalamus and, upon binding to specific GHRH receptors in the pituitary, stimulates growth hormone (GH) production and release from the pituitary. In addition to this neuroendocrine action, accumulated evidence implies additional roles for GHRH in carcinogenesis in non-pituitary tis...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1510391

    authors： Chatzistamou I,Schally AV,Kiaris H,Politi E,Varga J,Kanellis G,Kalofoutis A,Pafiti A,Koutselini H

    更新日期：2004-09-01 00:00:00

  • Neutrophil:lymphocyte ratio is positively related to type 2 diabetes in a large-scale adult population: a Tianjin Chronic Low-Grade Systemic Inflammation and Health cohort study.

    abstract：AIM:It is widely known that inflammation is related to type 2 diabetes (T2D), but few studies have shown a direct relationship between the immune system and T2D using a reliable biomarker. Neutrophil:lymphocyte ratio (NLR) is an easy-to-analyze inflammation biomarker, but few studies have assessed the relationship betw...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,随机对照试验

    doi：10.1530/EJE-15-0176

    authors： Guo X,Zhang S,Zhang Q,Liu L,Wu H,Du H,Shi H,Wang C,Xia Y,Liu X,Li C,Sun S,Wang X,Zhou M,Huang G,Jia Q,Zhao H,Song K,Niu K

    更新日期：2015-08-01 00:00:00

  • Thyroid function, as assessed by TSH, and future risk of venous thromboembolism: the Tromsø study.

    abstract：OBJECTIVE:The relationship between thyroid function and the risk of venous thromboembolism (VTE) has not been addressed in population-based cohorts. We investigated the association between TSH levels and the risk of VTE in a general adult population. DESIGN:Population-based cohort study. METHODS:TSH was measured in 1...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-15-0185

    authors： Lerstad G,Enga KF,Jorde R,Brodin EE,Svartberg J,Brækkan SK,Hansen JB

    更新日期：2015-07-01 00:00:00

  • Gender diversity in developing overweight over 35 years of Westernization in an Inuit hunter cohort and ethno-specific body mass index for evaluation of body-weight abnormalities.

    abstract：OBJECTIVE:To establish an Inuit body mass index (BMI) norm from a healthy, not malnourished, pure Inuit population and to investigate the development of overweight in the Inuit in Greenland. DESIGN:Longitudinal study with 35 years follow-up on overweight among Inuit in Greenland. METHODS:The heights and weights of 97...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.0.1510735

    authors： Andersen S,Mulvad G,Pedersen HS,Laurberg P

    更新日期：2004-12-01 00:00:00

  • DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

    abstract：:Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS), arising from gain-of-function mutations in Gαs, and cutaneous skeletal hypophosphatemia syndrome (CSHS), arising from gain-of-function mutations in the Ras/MAPK pathway, are strikingly complex, mosaic diseases with overlapping phenotypes. Both disorders are defined ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章,评审

    doi：10.1530/EJE-19-0969

    authors： de Castro LF,Ovejero D,Boyce AM

    更新日期：2020-05-01 00:00:00

  • Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease.

    abstract：BACKGROUND:Autoimmune polyendocrine syndrome type I (APS I) is a monogenic disease affecting endocrine glands and other organs due to mutations of the autoimmune regulator (AIRE) gene. There is a wide variability in clinical phenotypes in patients with APS I, which makes the diagnosis a challenge. OBJECTIVE:To screen ...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-07-0843

    authors： F Magitta N,Pura M,S Bøe Wolff A,Vanuga P,Meager A,M Knappskog P,Husebye ES

    更新日期：2008-05-01 00:00:00

  • Androgen receptor gene GGN repeat length and reproductive characteristics in young Swedish men.

    abstract：BACKGROUND:The human androgen receptor (AR) gene contains two polymorphisms of CAG and GGN repeats respectively. The GGN repeat function is still largely unknown and to date there are no in vivo data on this segment with respect to the general population. METHODS:We investigated the impact of CAG and GGN repeats on ma...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/eje.1.02204

    authors： Lundin KB,Giwercman YL,Rylander L,Hagmar L,Giwercman A

    更新日期：2006-08-01 00:00:00

  • Anthropometric, computed tomography and fat cell data in an obese population: relationship with insulin, leptin, tumor necrosis factor-alpha, sex hormone-binding globulin and sex hormones.

    abstract：OBJECTIVE:To correlate anthropometric, computed tomography and fat cell data from abdominal regions with the levels of serum insulin, C-peptide, leptin, tumor necrosis factor-alpha (TNF-alpha), testosterone, 17beta-estradiol, androstenedione, dehydroepiandrosterone sulphate (DHEA-S) and sex hormone-binding globulin (SH...

    journal_title：European journal of endocrinology

    pub_type： 临床试验,杂志文章

    doi：10.1530/eje.0.1430657

    authors： Garaulet M,Pérex-Llamas F,Fuente T,Zamora S,Tebar FJ

    更新日期：2000-11-01 00:00:00

  • Density of ghrelin-producing cells is higher in the gastric mucosa of morbidly obese patients.

    abstract：BACKGROUND:Ghrelin is a peptide mainly secreted by gastric mucosa and has been implicated in the regulation of eating behavior and weight balance. Obesity and Helicobacter pylori infection are associated with changes in plasma ghrelin levels. OBJECTIVE:This study was designed to evaluate the density of ghrelin-produci...

    journal_title：European journal of endocrinology

    pub_type： 杂志文章

    doi：10.1530/EJE-11-0201

    authors： Maksud FA,Alves JS,Diniz MT,Barbosa AJ

    更新日期：2011-07-01 00:00:00