Abstract:
:The common phenotype of nuclear receptor superfamily 5, group A, member 1 (NR5A1) gene mutations in 46,XY is gonadal dysgenesis without adrenal deficiency. Though the phenotype of gonadal dysgenesis is variable, ranging from complete female to normal male genitalia, an asymptomatic 46,XY male is rare. Preserved fertility has so far been described in only three affected 46,XY males with different mutations, but no functional analysis of these mutations has been performed. Here, we report on male siblings with hypospadias and their asymptomatic father in whom we identified a heterozygous NR5A1 mutation of c.910G>A, p.E304K. Western blotting and subcellular localization revealed no significant difference between the wild type (WT) and E304K. Electrophoretic mobility shift assay experiments showed that E304K abrogated DNA-binding ability. E304K reduced transactivation and had no dominant negative effect. In conclusion, we report on a novel hypomorphic NR5A1 mutation, which may be associated with the phenotype of the family.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Yagi H,Takagi M,Kon M,Igarashi M,Fukami M,Hasegawa Ydoi
10.1507/endocrj.EJ14-0340subject
Has Abstractpub_date
2015-01-01 00:00:00pages
289-95issue
3eissn
0918-8959issn
1348-4540pii
DN/JST.JSTAGE/endocrj/EJ14-0340journal_volume
62pub_type
杂志文章abstract::Since there is increasing evidence that postprandial hyperglycemia is a risk factor for the development of macrovascular complications, it is important to predict postprandial hyperglycemia in the early stages of glucose intolerance, and routine medical checkups provide a good opportunity to do so. The aim of this stu...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k10e-224
更新日期:2011-01-01 00:00:00
abstract::Aerobic (sub lactate threshold; sub-LT) exercise training facilitates oxidative phosphorylation and glycolysis of skeletal muscle. Thyroid hormone (TH) also facilitates such metabolic events. Thus, we studied whether TH signaling pathway is activated by treadmill training. Male adult rats received 30 min/day treadmill...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ16-0126
更新日期:2016-08-31 00:00:00
abstract::Obesity consists of hypertrophy and hyperplasia of adipocytes. Although the number of adipocytes is influenced by anatomical location, nutritional environment, hormone and genetic variation, it has been thought to be determined by the proliferation of precursor cells and subsequent differentiation. However, our recent...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej13-0053
更新日期:2013-01-01 00:00:00
abstract::The present study was undertaken to determine clinical features of hypopituitarism in elderly subjects. Thirty-one elderly patients with hypopituitarism were enrolled. They were 19 males and 12 females, with the ages of 70.7±5.4 years ranging from 62 to 80 years. High prevalence of hyponatremia (80.6%) and hypoglyc...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej12-0067
更新日期:2012-01-01 00:00:00
abstract::The inflammatory biomarkers that fully characterize the metabolically unhealthy (MU) state-which is a risk factor for cardiovascular disease (CVD)-remain unclear. Recent studies suggest follistatin-like protein 1 (FSTL1) could be used as a biomarker for inflammation and CVD, however there is little information on FSTL...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ18-0352
更新日期:2019-03-28 00:00:00
abstract::KRN568 is a calcimimetic compound which acts on the calcium sensing receptors (CaR) on the parathyroid gland to suppress secretion of PTH. A recent report has demonstrated that CaRs are expressed on cultured human antral gastrin cells and that gastrin secretion is stimulated by an increase in extracellular calcium lev...
journal_title:Endocrine journal
pub_type: 临床试验,杂志文章
doi:10.1507/endocrj.47.517
更新日期:2000-10-01 00:00:00
abstract::We had a patient with asymptomatic hyper-immunoreactive glucagonemia and with no evidence of pancreatic tumor detected by radiological examinations. The glucagon level was not decreased by the administration of glucose or somatosatin analogue (SMS 201-995). Gel filtration studies revealed that most glucagon immunoreac...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.42.455
更新日期:1995-08-01 00:00:00
abstract::Pathogenesis of pseudohypoparathyroidism type 1b (PHP-1b) is related to the loss of methylation at the GNAS exon A/B region, which is combined with epigenetic defects at other differentially methylated GNAS regions in most sporadic cases. In this study, we established a method for evaluating the methylation status of...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k10e-364
更新日期:2011-01-01 00:00:00
abstract::Estrogen-secreting adrenal cancers are extremely rare, with feminizing symptoms attributed to aromatase expression in the adrenal tumor. We describe a case of hypogonadotropic hypogonadism as a consequence of aberrant aromatase expression in a patient with adrenocortical adenocarcinoma. A 54 year-old man presented wit...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k10e-046
更新日期:2010-01-01 00:00:00
abstract::Metabolic disorders, such as PCOS (polycystic ovarian syndrome) and T2DM (type 2 diabetes mellitus), are associated with menstrual dysfunction, anovulation, infertility, and early pregnancy loss. Ovarian dysfunction is not only related to low pregnancy rates but also to the increased risk of miscarriage. Women with PC...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ16-0494
更新日期:2017-06-29 00:00:00
abstract::The cytologic localization and cellular levels of insulin-like growth factor binding protein-4 (IGFBP-4) in follicular and stromal compartments of normal and polycystic ovary syndrome (PCOS) ovaries during follicular growth and regression were investigated by the avidin/biotin immunoperoxidase method with a polyclonal...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.43.269
更新日期:1996-06-01 00:00:00
abstract::Irisin is an adipokine/myokine which could be connected with insulin sensitivity. Polycystic ovary syndrome (PCOS) is characterized by oligo- or anovulation, polycystic ovary, hyperandrogenism and insulin resistance. The aim of the present study was to determine the relationship between serum irisin concentration and ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ16-0249
更新日期:2016-12-30 00:00:00
abstract::Sixty-four patients with acromegaly were retrospectively analyzed to study the incidence and cause of hypertension in acromegaly. WHO criteria indicate that 37.5% patients with acromegaly have hypertension. The blood pressure was positively correlated with age, the insulin-like growth factor I (IGF-I) and serum sodium...
journal_title:Endocrine journal
pub_type: 历史文章,杂志文章
doi:10.1507/endocrj.42.781
更新日期:1995-12-01 00:00:00
abstract::Sarpogrelate, a selective 5-HT(2) receptor antagonist, is known to have a significant effect on antiplatelet action. This study was a double-blinded, randomized, paralleled multicenter trial to compare the effects of sarpogrelate and aspirin on preventing macrovascular complications in patients with type 2 diabetes. T...
journal_title:Endocrine journal
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1507/endocrj.ej12-0047
更新日期:2012-01-01 00:00:00
abstract::Immunocytochemical staining and cell immunoblot assay (CIBA) were performed in adenoma tissue from five patients with Cushing's disease and three patients with clinically silent corticotroph adenomas. All five patients with Cushing's disease showed hypersecretion of ACTH (130, 190, 331, 120, and 130 pg/ml), high level...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.49.285
更新日期:2002-06-01 00:00:00
abstract::We measured serum levels of the carboxy-terminal propeptide of type 1 procollagen (P1CP) as a marker of bone formation and the carboxy-terminal telopeptide of type 1 collagen (1CTP) as a marker of bone resorption by RIA in sera from 40 Graves' disease patients and 14 Hashimoto's disease patients before and during trea...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.43.701
更新日期:1996-12-01 00:00:00
abstract::Leptin is considered to play a role in maintenance of energy balance and body weight by neuroendocrine mechanisms. The physiological mechanisms for thyroid hormone-induced alteration in serum leptin are not well known. In the present study, the relationship between thyroid hormones and leptin levels was investigated i...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.52.213
更新日期:2005-04-01 00:00:00
abstract::Impaired secretion of glucagon-like peptide 1 (GLP-1) has been suggested to contribute to the deficient incretin effect in patients with type 2 diabetes mellitus (T2DM). Recent studies, however, have not always supported this notion. Since Japanese patients with T2DM usually have severe impairment in the earlyphase of...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k09e-269
更新日期:2010-01-01 00:00:00
abstract::The purpose of this study was to review the phenotypic and endocrine features or a series of patients with ambiguous genitalia or sex-reversal due to gonadal dysgenesis (GD) and to analyse the impact of these on the decision about sex of rearing. This study is a retrospective analysis of 22 patients with GD treated be...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.44.95
更新日期:1997-02-01 00:00:00
abstract::Unusual presentations with bone, lung or soft tissue metastases in initial diagnosis of follicular thyroid carcinoma have been reported occasionally. This implies how difficult it is to diagnosis this type of cancer at the pre-operative or intra-operative stage of treatment. Fine needle aspiration cytology has been sh...
journal_title:Endocrine journal
pub_type: 杂志文章,评审
doi:10.1507/endocrj.kr-77
更新日期:2006-08-01 00:00:00
abstract::Betacellulin (BTC) purified from mouse beta cell tumor (betaTC-3) is a new member of the epidermal growth factor (EGF) family which can bind receptor tyrosine kinase, EGF receptor (erbB1) and erbB4. It has been demonstrated that proBTC mRNA was abundantly expressed in human pancreas tissue, and that BTC converted amyl...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.46.755
更新日期:1999-12-01 00:00:00
abstract::Angiotensin II (Ang II) is a well-known peptide that maintains the balance of electrolytes in the higher vertebrates. Ang II stimulation in the adrenal gland induces the synthesis of mineralocorticoids, mainly aldosterone, through the up-regulation of aldosterone synthase (CYP11B2) gene expression. Additionally, it ha...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ20-0144
更新日期:2020-12-26 00:00:00
abstract::An early thirties man diagnosed with Erdheim-Chester disease (ECD) was simultaneously disclosed to have hypogonadotropic hypogonadism, central adrenal insufficiency, and GH deficiency in addition to central diabetes insipidus (CDI). Pituitary magnetic resonance imaging (MRI) showed swelling in the stalk, enlargement o...
journal_title:Endocrine journal
pub_type: 杂志文章,评审
doi:10.1507/endocrj.ej13-0419
更新日期:2014-01-01 00:00:00
abstract::We describe a case of diabetes insipidus (DI) due to a pituitary tumor in a 33-year-old pregnant woman who developed a sudden onset of polyuria (over 8 l/day) and polydipsia at 30 weeks of gestation. Her plasma concentration of vasopressin (AVP) was low compared with high serum osmolality (298 mOsm/kg), and her urine ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.43.577
更新日期:1996-10-01 00:00:00
abstract::The effects of an aqueous extract of Ferula hormonis on social aggression, fertility and some physiological and biochemical parameters were investigated in male mice. The ingestion of 3 mg/kg of aqueous extract of F. hormonis for six weeks clearly inhibited social aggression. Body wet weight and other sex accessory or...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.48.473
更新日期:2001-08-01 00:00:00
abstract::A 77-year-old man was diagnosed as having hypothyroidism. An electrocardiogram obtained at the time of the first examination revealed Brugada electrocardiographic waveforms in leads V1 to V3. When pilsicainide hydrochloride loading changed the waveforms of the electrocardiographic ST segment, this result suggested an ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k07e-024
更新日期:2008-07-01 00:00:00
abstract::The onset of physical signs in infants with hypophosphatemic vitamin D resistant rickets (HDRR) has generally been considered to be at the age of 12 months, but the time of appearance of hypophosphatemia and rachitic signs on radiographs remains unclear. We report a prospective study in three neonates whose mothers we...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.43.339
更新日期:1996-06-01 00:00:00
abstract::To explore the relationship between serum thyrotropin and components of metabolic syndrome in a Chinese cohort. A total of 1534 adult inhabitants in DaDong district of Shenyang were asked to fulfill the questionnaire, complete physical examination and OGTT. Blood samples were collected to test thyrotropin (TSH), fasti...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k10e-272
更新日期:2011-01-01 00:00:00
abstract::We examined the effects of the long-term administration to mice of thyroid hormone or propylthiouracil (PTU) on lymphocyte subsets in spleens, and thymuses to clarify whether hyperthyroxinemia itself causes the changes in lymphocyte subsets, such as the marked increase in CD5+ B cells and decrease in natural killer (N...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.42.661
更新日期:1995-10-01 00:00:00
abstract::The tissue-specific circulating markers of thyroid hormone action on cardiac function have not been established. Although the relationship between thyroid function and plasma brain natriuretic peptide (BNP) levels has been evaluated in patients with thyroid disorders, the relationship between these parameters in the g...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ19-0380
更新日期:2020-04-28 00:00:00