Abstract:
OBJECTIVE:A sex determining gene(s) has been mapped to a approximately 700 kb region distal to the exons of DMRT1 on 9p. The aim of this study was to examine gonadal developmental status in XX patients hemizygous for the 9p sex determining region. DESIGN:Clinical and molecular studies were performed in an 8-year-old girl with 46,XX,del(9)(p22) (case 1) and in a 2-year-old girl with 46,XX,del(9)(p23) (case 2). METHODS:Ovarian function status was assessed by gonadotrophin-releasing hormone (GnRH) tests. Hemizygosity for the sex determining region was examined by fluorescence in situ hybridisation and microsatellite analyses for a total of 17 loci on distal 9p. RESULTS:GnRH tests indicated mild gonadotrophin hyper responses in both cases (case 1: follicle stimulating hormone 9.2-->22.7 IU/l, luteinising hormone 0.7 --> 16.6 IU/l; case 2: follicle stimulating hormone 7.6 --> 38.2 IU/l, luteinising hormone 0.6 --> 9.4 IU/l). Molecular studies showed hemizygosity for the 9p sex determining region in both cases. CONCLUSIONS:The results, in conjunction with previous reports describing sex development in XX and XY patients hemizygous for the 9p sex determining region, imply that haploinsufficiency of the 9p sex determining gene(s) primarily hinders the formation of the indifferent gonad, leading to a wide range of testicular or ovarian development.
journal_name
Eur J Endocrinoljournal_title
European journal of endocrinologyauthors
Ogata T,Muroya K,Ohashi H,Mochizuki H,Hasegawa T,Kaji Mdoi
10.1530/eje.0.1450613subject
Has Abstractpub_date
2001-11-01 00:00:00pages
613-7issue
5eissn
0804-4643issn
1479-683Xpii
145613journal_volume
145pub_type
临床试验,杂志文章abstract:AIM:To describe volumes of orbital fat (FV) and extraocular muscles (MV) in Graves' orbitopathy (GO) as a function of the duration of GO. PATIENTS:i) Cross-sectional survey among 95 consecutive patients with untreated GO who had been referred to the combined thyroid-eye clinics of our university hospital. ii) Longitud...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-14-1140
更新日期:2015-08-01 00:00:00
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
更新日期:1995-12-01 00:00:00
abstract:BACKGROUND AND OBJECTIVES:Primary hyperparathyroidism (PHPT) is associated with increased cardiovascular mortality and morbidity. Little is known about hemostatic features of patients with PHPT. To our knowledge, plasma tissue factor pathway inhibitor (TFPI) and thrombin-activatable fibrinolysis inhibitor (TAFI) levels...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0069
更新日期:2009-05-01 00:00:00
abstract:OBJECTIVE:Makorin ring finger protein 3 (MKRN3) gene restrains the hypothalamic-pituitary-gonadal axis. In girls, peripheral levels of MKRN3 decline prior to the onset of puberty. We described longitudinal changes in serum MKRN3 levels in boys before and during puberty and assessed the effect of inhibition of estrogen ...
journal_title:European journal of endocrinology
pub_type: 杂志文章,随机对照试验
doi:10.1530/EJE-15-1193
更新日期:2016-06-01 00:00:00
abstract:BACKGROUND:Individuals carrying a heterozygous inactivating PAX8 mutation are affected by congenital hypothyroidism (CH), although heterozygous Pax8 knockout mice are not. It has remained unclear whether CH in PAX8 mutation carriers is caused by haploinsufficiency or a dominant negative mechanism. OBJECTIVE:To report ...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-12-0410
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVE:To compare the presentation and clinical course of Graves' disease (GD) in two pediatric populations consisting of 28 patients with Down's syndrome (DS) and 109 controls without DS respectively. DESIGN AND METHODS:The evolution over time of GD was determined in both groups according to the clinical changes a...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0751
更新日期:2010-03-01 00:00:00
abstract::Osteopetrosis is a rare metabolic bone disease characterized by a generalized increase in skeletal mass. It is inherited in a number of mammalian species, including man, and results from a congenital defect in the development or function of the osteoclasts. The consequent impairment of bone resorption prevents formati...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/eje.0.1340143
更新日期:1996-02-01 00:00:00
abstract:UNLABELLED:In healthy boys, the pituitary-gonadal axis exhibits diurnal variation in early puberty. Serum testosterone levels are higher during the night and low or immeasurable during the day. These fluctuating levels of circulating androgens in early pubertal boys are difficult to monitor. Prostate specific antigen (...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1360401
更新日期:1997-04-01 00:00:00
abstract::Papillary craniopharyngioma (PCP) is an intracranial tumor that results in high levels of morbidity. We recently demonstrated that the vast majority of these tumors harbor the oncogenic BRAF V600E mutation. The pathologic diagnosis of PCP can now be confirmed using mutation specific immunohistochemistry and targeted g...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-15-0957
更新日期:2016-04-01 00:00:00
abstract:OBJECTIVE:In the last decade, surgery of primary hyperparathyroidism (HPT) due to a solitary adenoma has moved on from the traditional wide bilateral neck exploration (BNE) to more limited approaches such as unilateral neck exploration and minimally invasive parathyroidectomy. DESIGN:To define the role of intraoperati...
journal_title:European journal of endocrinology
pub_type: 临床试验,杂志文章
doi:10.1530/eje.0.1490007
更新日期:2003-07-01 00:00:00
abstract:INTRODUCTION:Activating mutations of the BRAF oncogene are frequently detected in papillary thyroid carcinoma (PTC) and have been associated with a worse prognosis. The amino acid substitution V600E accounts for 90% of all oncogenic BRAF mutations and is typically detected in classic PTCs, whereas other less frequent B...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-08-0239
更新日期:2008-07-01 00:00:00
abstract:OBJECTIVE:Vascular endothelial growth factor (VEGF) exists in three main splice variants, characterized by 121, 165 and 189 amino acids (VEGF 121, VEGF 165 and VEGF 189) and acts via two specific receptors: VEGF-R1 or Flt-1 and VEGF-R2 or KDR. VEGF plays an important role in the pathogenesis of diabetic retinopathy. Th...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1500799
更新日期:2004-06-01 00:00:00
abstract::Acromegaly is associated with high morbidity and elevated mortality when not adequately treated. Surgery is the first-line treatment for most patients as it is the only one that can lead to immediate cure. In patients who are not cured by surgery, treatment is currently based on a trial-and-error approach. First-gener...
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
abstract:OBJECTIVES:Our aim was to analyze a large cohort of childhood onset GH deficiency (CO-GHD) adults from a unique adult center, in order to analyze their clinical management and to study the metabolic and bone status in relation to GHD and to the other pituitary deficits, and to evaluate these parameters during the long-...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-13-0572
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:The purpose of this meta-analysis was to examine the evidence for the effectiveness of aerobic exercise interventions on reducing insulin resistance markers in obese children and/or adolescents. A secondary outcome was change in percentage of body fat. METHODS:A computerized search was made from seven databa...
journal_title:European journal of endocrinology
pub_type: 杂志文章,meta分析
doi:10.1530/EJE-14-0291
更新日期:2014-10-01 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...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.1.02254
更新日期:2006-10-01 00:00:00
abstract::Osteoporosis is being increasingly recognised in paediatric practice as a consequence of several factors. These include the increasing complexity of chronic conditions and the associated treatments managed by paediatricians. In addition, the improved care provided to children with chronic illness has led to many of th...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-08-0282
更新日期:2008-12-01 00:00:00
abstract::X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport pro...
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
abstract:DESIGN:In order to characterize whether different degrees of adipose tissue storage may be associated with markers of early atherosclerosis, we evaluated oxidant-antioxidant status and inflammatory markers and determined carotid intima-media thickness (cIMT) in healthy constitutional lean and obese pre-pubertal childre...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-0042
更新日期:2009-07-01 00:00:00
abstract:UNLABELLED:Chronic exposure to hypercortisolism has significant impact on patient's health and health-related quality of life (HRQoL), as demonstrated with generic questionnaires. We have developed a disease-generated questionnaire to evaluate HRQoL in patients with Cushing's syndrome (CS; CushingQoL). OBJECTIVE:Valid...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0762
更新日期:2008-05-01 00:00:00
abstract::Exogenous growth hormone (hGH) administration in humans attenuates the endogenous growth hormone (GH) response to some pharmacological stimuli; in particular, pretreatment with hGH completely blocks the serum GH response to growth hormone-releasing hormone. In order to evaluate the mechanism(s) whereby opiods induce G...
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.0.1340073
更新日期:1996-01-01 00:00:00
abstract:OBJECTIVES:Investigation of small numbers of parathyroid tumours by X-chromosome inactivation analysis suggests that the majority of them are monoclonal lesions most likely caused by a somatic mutation. Somatic mutations in the MEN1 gene located on chromosome 11q13 have recently been identified in 12-17% of solitary pa...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1430047
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVE:Prolactin is capable of both trophic and lytic actions in rat corpora lutea. In corpora lutea responding to a trophic prolactin signal, the long form of the prolactin receptor is the dominant form and is upregulated by prolactin. We investigated whether mRNA for the short form of the prolactin receptor was do...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1430285
更新日期:2000-08-01 00:00:00
abstract::To know the role of sex hormone-binding globulin (SHBG) in the intracellular steroidal actions in human ovarian cancers, the expression of SHBG mRNA as a substitute for intracellular SHBG expression was investigated in normal ovarian tissues and ovarian tumors. In the present study, we used competitive reverse transcr...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1330327
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:Circulating IGF1 declines with age while ill-health increases. Controversy remains whether differences in the levels of IGF1 and its binding proteins 1 and 3 (IGFBP1 and IGFBP3) determine health outcomes during ageing. We examined associations of IGF1, IGFBP1 and IGFBP3 with all-cause and cardiovascular morta...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-11-0059
更新日期:2011-05-01 00:00:00
abstract:Objectives:Male hypogonadism is associated with higher risk of co-morbidity and premature mortality. It is, therefore, of utmost importance to identify young men who are at the highest risk of testosterone deficiency and who may benefit from preventive measures. In this context, infertile men constitute a high-risk gro...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-19-0734
更新日期:2020-04-01 00:00:00
abstract::The relationship between calcitrophic hormones and blood pressure has been investigated in 583 elderly subjects who were untreated for hypertension. Univariate analysis demonstrated that serum parathyroid hormone, calcitriol, albumin and calcium were correlated significantly with mean blood pressure (r = +0.15, +0.10,...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/eje.0.1300446
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:The kisspeptin/GPR54 pathway has been proven to be crucial in the process of puberty onset, yet the polymorphisms in the KISS1 gene and their relationships with central precocious puberty (CPP) have not been investigated. This study was performed to reveal the relationship between the gene and the disease. D...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-07-0061
更新日期:2007-07-01 00:00:00
abstract::This manuscript provides guidance on the management of thyroid dysfunction during the COVID-19 pandemic. Autoimmune thyroid diseases are not linked to increased risks of COVID-19. Uncontrolled thyrotoxicosis may result in more severe complications from SARS-CoV-2 infection, including thyroid storm. The management of p...
journal_title:European journal of endocrinology
pub_type: 杂志文章,评审
doi:10.1530/EJE-20-0445
更新日期:2020-07-01 00:00:00
abstract:BACKGROUND AND AIMS:Ghrelin is an orexigenic 28-amino acid peptide produced by the stomach. Circulating ghrelin levels rise shortly before and fall shortly after every meal. Peptide YY (PYY), an anorexigenic 36-amino acid peptide, is secreted primarily from the intestinal mucosa of the ileum and large intestine. Plasma...
journal_title:European journal of endocrinology
pub_type: 杂志文章
doi:10.1530/EJE-09-1033
更新日期:2010-03-01 00:00:00