Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.

Abstract:

UNLABELLED:A diagnosis of bilateral pheochromocytoma warrants exclusion of hereditary pheochromocytoma. OBJECTIVE:To describe the first case of a bilateral pheochromocytoma associated with V804M mutation in the RET proto-oncogene. PATIENTS:The index case was a 54-year-old man with bilateral adrenal masses discovered during a CT scan performed for other reasons. MEASUREMENTS:Genetic analysis included exons 8-11 and 13-17 in the RET proto-oncogene, all four exons and flanking intronic regions in the SDHD gene, all eight exons and flanking intronic regions in the SDHB, and all three exons in the VHL gene. RESULTS:Investigations revealed elevated urinary metanephrines (32.3 micromol/day), and laparoscopic bilateral adrenalectomy confirmed bilateral pheochromocytomas. A heterozygous V804M mutation in exon 14 of the RET was found in the index case and in four relatives. Total thyroidectomy, performed in four of five affected members in this kindred, disclosed a medullary thyroid carcinoma in the index case and in a 50-year-old woman, and nodular C-cell hyperplasia in the other two subjects. CONCLUSIONS:This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Recasens M,Oriola J,Fernández-Real JM,Roig J,Rodríguez-Hermosa JI,Font JA,Galofre P,López-Bermejo A,Ricart W

doi

10.1111/j.1365-2265.2007.02830.x

subject

Has Abstract

pub_date

2007-07-01 00:00:00

pages

29-33

issue

1

eissn

0300-0664

issn

1365-2265

pii

CEN2830

journal_volume

67

pub_type

杂志文章
  • Effect of acute and chronic neuroleptic therapy on serum prolactin levels in men and women of different age groups.

    abstract::A single fasting level of serum prolactin was measured in each of sixty control subjects and eighty-three psychiatric patients of both sexes who had been on neuroleptic therapy for 2-4 weeks (acute treatment) or at least 5 years (chronic treatment) and who were aged either 17-45 or 48-85 years. All groups of patients ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1976.tb01953.x

    authors: Rivera JL,Lal S,Ettigi P,Hontela S,Muller HF,Friesen HG

    更新日期:1976-05-01 00:00:00

  • The dynamics of prolactin secretion during the puerperium in women.

    abstract::This study deals with serum prolactin concentrations during various conditions in the early puerperium in an attempt to investigate some characteristics of the mechanisms responsible for the regulation of the lactotropes. In nursing, in non-nursing, non-medicated and in non-nursing, bromocriptine-treated women prolact...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1981.tb00650.x

    authors: Vemer HM,Rolland R

    更新日期:1981-08-01 00:00:00

  • Symptoms of thyrotoxicosis, bone metabolism and occult atrial fibrillation in older women with mild endogenous subclinical hyperthyroidism.

    abstract:OBJECTIVE:The objective of this study was to evaluate symptoms of thyrotoxicosis, bone turnover, bone mineral density (BMD) and occult atrial fibrillation (AF) in women ≥65 years with mild endogenous subclinical hyperthyroidism (SCH). DESIGN:Cross-sectional and case-control study. PATIENTS:Signs and symptoms of thyro...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12979

    authors: Rosario PW,Carvalho M,Calsolari MR

    更新日期:2016-07-01 00:00:00

  • Comparison of serum vaspin levels and vaspin expression in adipose tissue and smooth muscle tissue in pregnant women with and without gestational diabetes.

    abstract:OBJECTIVE:Vaspin is associated with metabolic parameters and insulin resistance. However, the expression of vaspin in visceral adipose tissue (VAT) in pregnant women with gestational diabetes mellitus (GDM) has not been fully explored, and the contribution of vaspin to the biological mechanisms underlying GDM remains u...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.13403

    authors: Tang Y,Qiao P,Qu X,Bao Y,Li Y,Liao Y,Ying H

    更新日期:2017-10-01 00:00:00

  • Treatment of precocious puberty with LHRH analogue in combination with cyproterone acetate-further experience.

    abstract::Six girls and one boy with precocious puberty were treated with a superactive LHRH analogue (D-TRP6-LHRH) for periods ranging from 1 year to 2 years and 3 months. In the first phase of the treatment it was administered in combination with cyproterone acetate (CyA) to counteract an early stimulatory effect until inhibi...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1984.tb03433.x

    authors: Kauli R,Pertzelan A,Ben-Zeev Z,Lewin RP,Kaufman H,Schally AM,Schally AV,Laron Z

    更新日期:1984-04-01 00:00:00

  • Gonadal-pituitary hormone levels in gynaecomastia.

    abstract::Plasma levels of LH, FSH, oestradiol 17 beta and testosterone were measured in twenty-two men with gynaecomastia. The group was divided by age into those under and those over 50-years-old and the mean hormone levels of the two groups were compared with two groups of age-matched normal men. In the young men with gynaec...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1980.tb01025.x

    authors: McFadyen IJ,Bolton AE,Cameron EH,Hunter WM,Raab G,Forrest AP

    更新日期:1980-07-01 00:00:00

  • CAG repeat length in the androgen receptor gene and gonadotrophin suppression influence the effectiveness of hormonal male contraception.

    abstract:OBJECTIVE:Nonuniformity in suppression of spermatogenesis induced by various hormones or hormone combinations has impeded the development of an effective hormonal male contraceptive. The basis for this heterogeneity in response remained unresolved to date; however, the presence of ethnic differences points to an involv...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.2002.01652.x

    authors: Eckardstein SV,Schmidt A,Kamischke A,Simoni M,Gromoll J,Nieschlag E

    更新日期:2002-11-01 00:00:00

  • Inositol phospholipid turnover and intracellular Ca2+ responses to thyrotrophin-releasing hormone, gonadotrophin-releasing hormone and arginine vasopressin in pituitary corticotroph and somatotroph adenomas.

    abstract::We have studied the inositol phospholipid turnover response to thyrotrophin-releasing hormone (TRH) gonadotrophin-releasing hormone (GnRH) and arginine vasopressin (AVP) in five corticotroph and six somatotroph pituitary adenomas. GnRH (100 nM) increased inositol phospholipid turnover in five of five somatotroph adeno...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1990.tb00467.x

    authors: Levy A,Lightman SL,Hoyland J,Mason WT

    更新日期:1990-07-01 00:00:00

  • The effects of arginine, insulin and metoclopramide on growth hormone, prolactin and cortisol release in children.

    abstract::The growth hormone (GH) and prolactin (PRL) responses to metoclopramide (MCP) were compared to those with arginine and insulin-induced hypoglycaemia in eight children. While a significant rise in GH release after stimulation with arginine and insulin occurred in all subjects (P less than 0.05), no significant increase...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1980.tb01380.x

    authors: Ijaiya K,Roth B,Schwenk A

    更新日期:1980-06-01 00:00:00

  • Normal final height and apparent cure after pituitary irradiation for Cushing's disease in childhood: long-term follow-up of anterior pituitary function.

    abstract::Pituitary-dependent Cushing's syndrome is rare in childhood. Two patients are reported who had unsuccessful transsphenoidal microadenomectomy and therefore underwent pituitary radiotherapy. In both patients there was progressive normalization of hypothalamo-pituitary-adrenal function and at 8 and 10 years after radiot...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.1998.00385.x

    authors: Johnston LB,Grossmann AB,Plowman PN,Besser GM,Savage MO

    更新日期:1998-05-01 00:00:00

  • Recovery of growth hormone secretion following cabergoline treatment of macroprolactinomas.

    abstract:OBJECTIVE:Cabergoline therapy normalizes prolactin levels and reduces the size of macroprolactinomas. However there are no data indicating whether cabergoline can normalize growth hormone secretion in patients who were growth hormone deficient at the time of diagnosis of a macroprolactinoma. SUBJECTS AND METHODS:We st...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.2000.01137.x

    authors: George LD,Nicolau N,Scanlon MF,Davies JS

    更新日期:2000-11-01 00:00:00

  • Predicting the growth response to growth hormone in patients with intrauterine growth retardation.

    abstract:OBJECTIVE:Human GH treatment of short children who had intrauterine growth retardation (IUGR) results in a highly variable growth response. The object of this study was to test the hypothesis that differences in responsiveness to exogenously administered GH might reflect differences in endogenous GH secretion or sensit...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1046/j.1365-2265.1996.732553.x

    authors: Frank GR,Cheung PT,Horn JA,Alfaro MP,Smith EP,Chernausek SD

    更新日期:1996-06-01 00:00:00

  • Growth hormone (GH) enhances anaerobic capacity: impact on physical function and quality of life in adults with GH deficiency.

    abstract:CONTEXT:Anaerobic capacity is impaired in adults with GH deficiency (GHD), adversely affecting physical function and quality of life (QoL). OBJECTIVE:To investigate whether GH replacement improves anaerobic capacity, physical function and QoL in adults with GHD. DESIGN:One-month double-blind placebo-controlled crosso...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.13147

    authors: Chikani V,Cuneo RC,Hickman I,Ho KK

    更新日期:2016-10-01 00:00:00

  • Effects of in vitro fertilization (IVF) therapies on metabolic, endocrine and inflammatory status in IVF-conceived pregnancy.

    abstract:RATIONALE:In vitro fertilization (IVF) is a common treatment for infertility. In mice, IVF is associated with development of glucose intolerance. However, human data are limited regarding the metabolic, endocrine and inflammatory effects of IVF therapy in IVF-conceived pregnancies. OBJECTIVE:To explore effects of IVF ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.14270

    authors: Coussa A,Hasan HA,Barber TM

    更新日期:2020-12-01 00:00:00

  • Effect of thyroxine on the inactivation of thyrotrophin-releasing hormone by rat and human plasma.

    abstract::The inactivation of synthetic [3H]thyrotrophin-releasing hormone (TRH) by plasma was studied in rats treated with propylthiouracil (PTU) alone or with PTU and thyroxine. 48 h after the onset of treatment with thyroxine, the capacity of rat plasma to inactivate [3H]TRH was significantly increased. The percentage of dea...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1976.tb01961.x

    authors: Dupont A,Labrie F,Levasseur L,Dussault JH,Schally AV

    更新日期:1976-07-01 00:00:00

  • Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

    abstract:CONTEXT:Vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700) is a rare autosomal recessive disorder and is caused by mutations in the CYP27B1 gene. OBJECTIVES:We aim to investigate CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation. METHODS:The ent...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2012.04394.x

    authors: Durmaz E,Zou M,Al-Rijjal RA,Bircan I,Akçurin S,Meyer B,Shi Y

    更新日期:2012-09-01 00:00:00

  • Is testicular endocrine function abnormal in young men with spinal cord injuries?

    abstract::Plasma concentrations of FSH, LH, testosterone and prolactin have been studied in seventeen men, aged 19 to 38 years, with traumatic paraplegia. Plasma testosterone, FSH and LH values were normal in all patients. The median LH concentration in patients was significantly higher (P less than 0.05) than in controls but t...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1982.tb01594.x

    authors: Young RJ,Strachan RK,Seth J,Nicol K,Frier BM,Corrall RJ

    更新日期:1982-09-01 00:00:00

  • The level of endothelin-like immunoreactivity in seminal fluid correlates positively with semen volume and negatively with plasma gonadotrophin levels.

    abstract:OBJECTIVE:The newly discovered vasoactive peptides, endothelin 1, 2 and 3, and their receptors are widely distributed in various non-vascular tissues. Recent studies have suggested the presence, as well as possible regulatory roles, of endothelins at several levels of the pituitary-gonadal axis. We determined the level...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1994.tb03932.x

    authors: Hammami MM,Haq A,AlSedairy S

    更新日期:1994-03-01 00:00:00

  • Ontogeny of foetal exposure to maternal cortisol using midtrimester amniotic fluid as a biomarker.

    abstract:OBJECTIVE:There is increasing evidence that antenatal stress has long-lasting effects on child development, but there is less accord on the mechanisms and the gestational window of susceptibility. One possible mechanism is by foetal exposure to maternal cortisol. To explore this, we investigated the relationship betwee...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2007.02785.x

    authors: Sarkar P,Bergman K,Fisk NM,O'Connor TG,Glover V

    更新日期:2007-05-01 00:00:00

  • Cushing's disease due to female gonadotroph adenoma of the pituitary.

    abstract::A 39-year-old woman presented with amenorrhoea, hyperprolactinaemia and sellar mass. Bromocriptine normalized PRL levels but failed to suppress tumour growth. Subsequently, she developed clinical signs and elevated blood cortisol levels consistent with a diagnosis of Cushing's disease. A pituitary tumour was removed w...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1995.tb02047.x

    authors: Ikeda H,Yoshimoto T,Kovacs K,Horvath E

    更新日期:1995-09-01 00:00:00

  • A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma.

    abstract:CONTEXT:Germline mutations in four genes (RET, VHL, SDHB and SDHD) are detected in about 17% of patients with apparently sporadic pheochromocytoma. Thus, genetic screening of all patients with this disease is suggested for a rational diagnostic approach and management. OBJECTIVE:To report the clinical, biochemical and...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/cen.12032

    authors: D'Elia AV,Grimaldi F,Pizzolitto S,De Maglio G,Bregant E,Passon N,Franzoni A,Verrienti A,Tamburrano G,Durante C,Filetti S,Fogolari F,Russo D,Damante G

    更新日期:2013-03-01 00:00:00

  • The levels and subcellular distribution of hormones and marker enzymes in pituitaries from control subjects and patients with prolactinomas, acromegaly or functionless pituitary tumours.

    abstract::Pituitary homogenates were prepared from patients undergoing pituitary ablation for breast or prostatic carcinoma (controls) and from patients with either PRL- and GH-secreting pituitary adenomas or from patients with 'functionless' pituitary tumours. The principal subcellular organelles, plasma membrane, lysosomes, m...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1984.tb01389.x

    authors: De Marco L,Mashiter K,Peters TJ

    更新日期:1984-11-01 00:00:00

  • Measurement of 1,25-dihydroxycholecalciferol in man by radioimmunoassay.

    abstract::1 alpha, 25-Dihydroxycholecalciferol (1,25-(OH)2D3) has been measured in human serum by radioimmunoassay. The assay uses a high titre antiserum raised in sheep against 1,25-(OH)2D3-25-hemisuccinate, conjugated to bovine serum albumin. The sensitivity of the assay is 10 pg/tube. Other hydroxylated forms of vitamin D3 c...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1979.tb03068.x

    authors: Clemens TL,Hendy GN,Papapoulos SE,Fraher LJ,Care AD,O'Riordan JL

    更新日期:1979-01-01 00:00:00

  • Genetic developments in autoimmune thyroid disease: an evolutionary process.

    abstract::The identification of genes placing individuals at an increased risk for the development of autoimmune thyroid disease (AITD) has been a slow process. However, over the last 20 years or so real progress has been made with the mapping of novel loci, via a number of different approaches. First, through the use of tradit...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,评审

    doi:10.1111/j.1365-2265.2007.03075.x

    authors: Zeitlin AA,Simmonds MJ,Gough SC

    更新日期:2008-05-01 00:00:00

  • Radioimmunoassay artifact associated with circulating anti-rabbit antibodies.

    abstract::A 30 year old woman presenting with infertility was found to have elevated serum immunoreactive prolactin, TSH and total T3. These findings were eventually attributed to assay artifact when she was shown to have anti-rabbit antibodies in her serum. The possibility of laboratory artifact should be considered in clinica...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1988.tb01201.x

    authors: Jeffcoate WJ,Selby C,Powell RJ

    更新日期:1988-01-01 00:00:00

  • Carbohydrate metabolism during long-term growth hormone treatment in children with short stature born small for gestational age.

    abstract:OBJECTIVE:To assess possible side-effects of long-term continuous growth hormone (GH) treatment on carbohydrate (CH) metabolism in children with short stature born small for gestational age. DESIGN:In a prospective, randomised double-blind, dose-response multicentre trial, the effect of GH treatment on CH metabolism w...

    journal_title:Clinical endocrinology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1365-2265.2001.01178.x

    authors: Sas T,Mulder P,Aanstoot HJ,Houdijk M,Jansen M,Reeser M,Hokken-Koelega A

    更新日期:2001-02-01 00:00:00

  • Evidence for a hypothalamic alteration of catecholamine metabolism in polycystic ovary syndrome.

    abstract::The role of brain catecholamine (CA) activity in the neuroendocrine regulation of the GnRH-LH system in polycystic ovary syndrome (PCO) was investigated by high-performance liquid chromatography (HPLC) with electrochemical detector. We measured urinary dopamine (DA), noradrenaline (NA), adrenaline (A), vanillylmandeli...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.1988.tb01230.x

    authors: Paradisi R,Grossi G,Venturoli S,Capelli M,Porcu E,Fabbri R,Pasquali R,Flamigni C

    更新日期:1988-09-01 00:00:00

  • Intrauterine growth restriction (IUGR) is associated with increased leptin synthesis and binding capability in neonates.

    abstract:OBJECTIVE:Animal studies suggest pathological foetal programming of hypothalamic circuits regulating food intake in the setting of leptin deficiency and intrauterine growth restriction (IUGR). We aimed to compare placental leptin synthesis and leptin-binding capability in venous cord blood between IUGR newborns and neo...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1365-2265.2010.03943.x

    authors: Tzschoppe A,Struwe E,Rascher W,Dörr HG,Schild RL,Goecke TW,Beckmann MW,Hofner B,Kratzsch J,Dötsch J

    更新日期:2011-04-01 00:00:00

  • Improvement of intrinsic myocardial contractility and cardiac fibrosis degree in acromegalic patients treated with somatostatin analogues: a prospective study.

    abstract:BACKGROUND:Acromegalic patients have increased left ventricular (LV) mass (M) and impaired diastolic function. AIM:Using ultrasonic cardiac tissue characterization, we evaluated the early changes in cardiac fibrosis (IBS) and intrinsic myocardial contractility (CVI) as well as their reversibility after treatment with ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章

    doi:10.1111/j.1365-2265.2005.02265.x

    authors: Bogazzi F,Di Bello V,Palagi C,Donne MG,Di Cori A,Gavioli S,Talini E,Cosci C,Sardella C,Brogioni S,Mariani M,Martino E

    更新日期:2005-05-01 00:00:00

  • Maternal hypothyroxinemia and effects on cognitive functioning in childhood: how and why?

    abstract::Exposure to maternal hypothyroxinemia during pregnancy, which is characterized by low free T4 but normal thyroid-stimulating hormone (TSH) levels, can negatively affect the foetus. This review provides an overview of present findings concerning the association between maternal hypothyroxinemia during pregnancy and chi...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,评审

    doi:10.1111/cen.12227

    authors: Henrichs J,Ghassabian A,Peeters RP,Tiemeier H

    更新日期:2013-08-01 00:00:00