Abstract:
:Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia, for which three modes of transmission have been described: X-linked, autosomal recessive and autosomal dominant. The KAL1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. We report sequence analysis using PCR-direct sequencing method of the entire coding region and splice site junctions of the KAL1 gene in three males with Kallmann syndrome. We found a novel mutation in one case and no mutation in the other two cases. The mutation consisted of a C to T substitution in exon 1 converting codon 66 (CAG) encoding glutamine into a termination codon (TAG)/(Q66X). As a consequence of this mutation, the function of the KAL1 protein consisting of 680 amino acids was severely truncated so as to be consistent with Kallmann syndrome. As only this patient had unilateral renal hypoplasia among the three cases, this would suggest the existence of KAL1 gene mutation in this abnormality.
journal_name
Endocr Jjournal_title
Endocrine journalauthors
Izumi Y,Tatsumi K,Okamoto S,Hosokawa A,Ueno S,Fukui H,Amino Ndoi
10.1507/endocrj.46.651subject
Has Abstractpub_date
1999-10-01 00:00:00pages
651-8issue
5eissn
0918-8959issn
1348-4540journal_volume
46pub_type
杂志文章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::Thyroid hormone plays an important role in growth hormone (GH) synthesis and secretion. To study the relationship between thyroid function and urinary GH secretion in the hyperthyroid and hypothyroid states, we measured thyroid hormones, simultaneously with serum and urinary GH levels, in 54 patients with thyroid dise...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.41.517
更新日期:1994-10-01 00:00:00
abstract::As a rare condition characterized by inflammation of the pituitary gland, hypophysitis usually results in hypopituitarism and pituitary enlargement. The most critical outcome of hypopituitarism is caused by secondary adrenal insufficiency. Glucocorticoid deficiency is a life-threatening condition, and patients who dev...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ20-0213
更新日期:2020-11-28 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::A series of chimeric TSH-LH/CG receptors were constructed by substituting homologous segments of the extracellular domain of the rat TSH receptor with corresponding segments of rat LH/CG receptor: C1 (amino acids 37-123 substituted), C2 (91-112), C3 (173-234), C4 (233-266), C5 (268-304), C6 (112-305) and C7 (36-404). ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.40.363
更新日期:1993-06-01 00:00:00
abstract::Multiple endocrine neoplasia type 1 (MEN 1) is rarely reported in Japanese and other oriental populations. To examine if there is a racial difference in the prevalence of MEN 1, we initiated extensive work on patients with endocrine tumors for additional lesions, and annual screening of family members of affected pati...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.44.841
更新日期:1997-12-01 00:00:00
abstract::The proteins found in cow milk have been reported to cause systemic inflammation. Endoplasmic reticulum (ER) stress is known to be involved in the development of several metabolic disorders including insulin resistance and non-alcoholic fatty liver disease. However, the effect of thiazolidinediones (TZDs) on ER stress...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej13-0167
更新日期:2013-01-01 00:00:00
abstract::The antidiabetic effects of Lactobacillus casei (LC) on a non-insulin-dependent diabetes mellitus (NIDDM) model, KK-Ay mice, were investigated. The oral administration of LC to male 4-week-old KK-Ay mice, or raising the mice on a 0.05% LC-containing diet significantly decreased the plasma glucose at 8 to 10 weeks of a...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.44.357
更新日期:1997-06-01 00:00:00
abstract::As 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET) is becoming a common imaging modality, the number of thyroid incidentalomas identified by FDG-PET (PET incidentaloma) is increasing. The purpose of this study was to elucidate the risk of cancer in focal thyroid PET incidentaloma in healthy subjects of...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k10e-008
更新日期:2010-01-01 00:00:00
abstract::Sixteen sporadic pheochromocytomas, 3 pheochromocytomas in neurofibromatosis 1, and 4 pheochromocytomas in multiple endocrine neoplasia (MEN) 2A or 2B were screened for mutations at codon 768 of the RET proto-oncogene by AluI digestion of polymerase chain reaction PCR products and mutations in exon 13 by PCR-single st...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.43.109
更新日期:1996-02-01 00:00:00
abstract::The amounts of immunoreactive proinsulin (IRP), immunoreactive insulin (IRI), and C-peptidelike immunoreactivity (CPR) in six insulinomas and one nesidioblastosis lesion were determined together with those in the surrounding pancreatic tissue. Four non-insulinoma and nondiabetic human pancreases were used as the contr...
journal_title:Endocrine journal
pub_type: 临床试验,杂志文章
doi:10.1507/endocrj.40.245
更新日期:1993-04-01 00:00:00
abstract::PRL surges in female rats have dual effects of luteal function: either inducing luteolysis during the estrous cycle or rescuing and maintaining luteal function during pseudopregnancy. We analyzed these apparent contradictory effects in relation to apoptosis. The detection of fragmented DNA and in situ 3'-end labeling ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.44.11
更新日期:1997-02-01 00:00:00
abstract::We report the case of a 7-year-old patient of short stature who had normal GH secretion, but a very low serum IGF-I level. On admittance, his height and weight were 102.2 cm (-3.8S.D.) and 15.7 kg (-1.8S.D.), respectively. His bone age was 2 years and 8 months. The serum GH responses to insulin, glucagon and L-dopa we...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.47.supplmarch_s125
更新日期:2000-03-01 00:00:00
abstract::Clinical studies have shown that hyperhomocysteinemia is associated with bone fragility. Homocysteine (Hcy) induces apoptosis of osteoblastic cell lineage by increasing oxidative stress, which may contribute to Hcy-induced bone fragility. Statins, 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors, ameliorate ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ15-0480
更新日期:2016-04-25 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::Age is an important prognostic factor in papillary thyroid carcinoma (PTC). In this study, we investigated the difference in prognosis of 7 subsets of PTC patients without distant metastasis at presentation or a history of radiation exposure (20 years or younger, 21-30 years, 31-40 years, 41-50 years, 51-60 years, 61...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.ej12-0044
更新日期:2012-01-01 00:00:00
abstract::Lipopolysaccharide (LPS) is known to stimulate the synthesis and secretion of various proinflammatory cytokines in both the peripheral immune cells and the brain. Yet, the relative contribution of peripheral and central cytokines to the LPS-induced activation of the hypothalamo-pituitary-adrenal axis is still poorly u...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.46.487
更新日期:1999-08-01 00:00:00
abstract::A 14-year-old girl was referred to our department because of headache and visual impairment following the resection of recurrent cardiac myxoma. Head magnetic resonance imaging (MRI) scan detected an intra- and supra-sellar tumor. Moreover, the patient showed the presence of spotty skin pigmentations on her cheeks and...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ19-0183
更新日期:2019-12-25 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::A 70-year-old man with abdominal aortic aneurysm underwent surgical repair with Hemashield vascular graft. Postoperatively, he was found to have very low plasma cortisol levels, which failed to increase after stimulation with ACTH. A tentative diagnosis of adrenal insufficiency was made despite the lack of its clinica...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k06-006
更新日期:2006-06-01 00:00:00
abstract::Long-term management of patients with differentiated thyroid cancer (DTC) commonly includes TSH-suppressive therapy with L-T4 and, in case of postsurgical hypoparathyroidism, Calcium-D3 supplementation, both of which may affect skeletal health. Experience with female patients treated for DTC at a young age and who wer...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ14-0408
更新日期:2015-01-01 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::Tumor necrosis factor-alpha (TNF-alpha) in placenta is believed to be involved in pathogenesis of intrauterine growth restriction. In contrast, insulin-like growth factors (IGFs) are believed to be important for stimulation of fetal and placental growth. IGF-I stimulates metabolic and growth-promoting actions directly...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k09e-189
更新日期:2010-01-01 00:00:00
abstract::21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. In addition to the clinical problems caused by adrenal insufficiency and androgen excess, a risk for obesity and metabolic syndrome during young adulthood is a major ramification of the disease. Although glucocorticoid therap...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.EJ16-0194
更新日期:2016-11-30 00:00:00
abstract::Growth hormone (GH) secreted from the pituitary is essential for postnatal growth in animals. GH exerts its actions by a direct effect on target organs and by stimulating insulin-like growth factor I (IGF-I) production. In the human pituitary, there is a naturally occurring variant protein which has a molecular mass o...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.47.supplmarch_s37
更新日期:2000-03-01 00:00:00
abstract::Endothelial dysfunction is considered to be an early event in the development of atherosclerosis. The present study was undertaken to evaluate endothelial function and biochemical markers in type 2 diabetes mellitus (T2DM) patients before and after treatment with or without pioglitazone (PIO). Forty-one T2DM patients ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k08e-308
更新日期:2009-01-01 00:00:00
abstract::Reactive oxygen species (ROS) are induced under diabetic conditions and are likely associated with the development of type 2 diabetes. It is also known that ROS production is facilitated in the presence of copper ion through the Fenton reaction. The aim of this study was to examine the involvement of copper ion in the...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.k09e-051
更新日期:2009-01-01 00:00:00
abstract::It seems reasonable to expect that biochemical changes occurring in the pregnant woman with diabetes should be reflected in the placenta structure. However, it has not been possible to correlate placental morphology with glycemic control in a comparison between those with long life diabetes and poorly controlled gesta...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.41.355
更新日期:1994-08-01 00:00:00
abstract::We studied the changes in serum sodium (Na) and potassium (K) levels in seventeen patients in diabetic ketoacidosis and nine patients in non-ketotic hyperosmolar coma, who had marked hyperglycemia (707.4 +/- 75.6 mg/dl, mean +/- SEM) and dehydration. The disorder characterized two types of alteration. The one group wa...
journal_title:Endocrine journal
pub_type: 临床试验,杂志文章
doi:10.1507/endocrj.41.37
更新日期:1994-02-01 00:00:00
abstract::The effect of luteinizing hormone releasing hormone (LHRH) on the neuronal activity of CA1 and CA3 regions of the hippocampus was studied by means of extracellular recordings in the castrated male, intact male, castrated female, and castrated female injected s.c. with 20 micrograms estradiol benzoate (EB) for 3 days. ...
journal_title:Endocrine journal
pub_type: 杂志文章
doi:10.1507/endocrj.42.251
更新日期:1995-04-01 00:00:00