The effect of calcium-sensing receptor gene polymorphisms on serum calcium levels: a familial hypocalciuric hypercalcemia family without mutation in the calcium-sensing receptor gene.

Abstract:

:Familial hypocalciuric hypercalcemia (FHH) is a benign syndrome with elevated levels of serum calcium, relative hypocalciuria, and non-suppressed serum parathyroid hormone (PTH) levels. FHH usually occurs by a heterozygous mutation of the calcium sensing receptor (Casr), but some FHH patients show no mutations of the Casr. We encountered a unique FHH family in which the proband and her mother had many calcium deposits on their skin. The proband was medicated with Levothyroxine for hypothyroidism due to an iodine transport defect (ITD). We searched for mutation of the Casr, but found none. The only change distinguishing the proband and her mother from her father was at codon 990, reported to be a polymorphic site. We investigated the frequency of polymorphism at codon 990, but a significant relationship between the three genotypes and the serum calcium concentration was excluded. At the other polymorphic sites at codon 536, 926, 986, and 1011, polymorphisms were rare in Japanese, and we could not confirm a significant relationship. In conclusion, mutation in the Casr gene alone does not explain all cases of FHH. The other mechanisms should be identified.

journal_name

Endocr J

journal_title

Endocrine journal

authors

Kanazawa H,Tanaka H,Kodama S,Moriwake A,Kobayashi M,Seino Y

doi

10.1507/endocrj.47.29

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

29-35

issue

1

eissn

0918-8959

issn

1348-4540

journal_volume

47

pub_type

杂志文章
  • Clinical outcomes of parathyroidectomy versus cinacalcet in the clinical management of secondary hyperparathyroidism.

    abstract::Parathyroidectomy (PTX) is the standard treatment for secondary hyperparathyroidism (SHPT); however, the administration of cinacalcet has gained prominence as a noninvasive treatment. We aimed to determine whether PTX or cinacalcet is more effective in preventing morbidity and mortality through reviewing follow-up dat...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ19-0036

    authors: Kim WW,Rhee Y,Kim BS,Kim K,Lee CR,Kang SW,Lee J,Jeong JJ,Nam KH,Chung WY

    更新日期:2019-10-28 00:00:00

  • Recent progress in research on the distribution and function of NUCB2/nesfatin-1 in peripheral tissues.

    abstract::Nesfatin-1 is a polypeptide derived from the posttranslational processing of the N-terminal fragment of nucleobindin 2 (NUCB2), that was originally identified as an anorexigenic hypothalamic neuropeptide. A number of reports have recently shown that NUCB2/nesfatin-1 is widely expressed in various peripheral tissues, i...

    journal_title:Endocrine journal

    pub_type: 杂志文章,评审

    doi:10.1507/endocrj.ej13-0236

    authors: Cao X,Liu XM,Zhou LH

    更新日期:2013-01-01 00:00:00

  • High incidence of thyroid cancer in focal thyroid incidentaloma detected by 18F-fluorodeoxyglucose [corrected] positron emission tomography in relatively young healthy subjects: results of 3-year follow-up.

    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

    authors: Ohba K,Nishizawa S,Matsushita A,Inubushi M,Nagayama K,Iwaki H,Matsunaga H,Suzuki S,Sasaki S,Oki Y,Okada H,Nakamura H

    更新日期:2010-01-01 00:00:00

  • False-positive TSH receptor antibody-a pitfall of third-generation TSH receptor antibody measurements in neonates.

    abstract::Maternal Graves' disease (GD) during pregnancy may influence thyroid function in fetuses. Neonates born to mothers with high serum TSH receptor antibody (TRAb) levels have been reported to develop 'neonatal GD'. Therefore, evaluations of serum thyroid hormone and TRAb levels in neonates upon birth are crucial for a pr...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ17-0426

    authors: Wada M,Kita M,Kawasaki K,Kusakabe T,Tagami T,Satoh-Asahara N,Shimatsu A,Hashimoto K

    更新日期:2018-05-28 00:00:00

  • LHRH effects on hippocampal neurons are modulated by estrogen in rats.

    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

    authors: Osada T,Kimura F

    更新日期:1995-04-01 00:00:00

  • Evaluation of salivary cortisol measurements for the diagnosis of subclinical Cushing's syndrome.

    abstract::Late-night salivary cortisol (NSC) has been recognized as a sensitive and easy-to-perform screening test for the diagnosis of overt Cushing's syndrome (CS). However, there have been few reports on the diagnostic utility of salivary cortisol (SC) measurement in the diagnosis of subclinical Cushing's syndrome (SCS). T...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej11-0204

    authors: Tateishi Y,Kouyama R,Mihara M,Doi M,Yoshimoto T,Hirata Y

    更新日期:2012-01-01 00:00:00

  • Is metabolic syndrome a condition independent of prediabetes and type 2 diabetes mellitus? A report from Turkey.

    abstract::It has been suggested that metabolic syndrome (MetS) overlaps prediabetes and type 2 diabetes and that it is not necessary to consider it as a separate clinical entity. In the present study, patients with normoglycemia and dysglycemia were compared in terms of MetS frequency and MetS criteria characteristics, in order...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07-036

    authors: Uzunlulu M,Oguz A

    更新日期:2007-12-01 00:00:00

  • Self-examination of thyroid nodules.

    abstract::The management of occult small thyroid nodules found by ultrasonography is sometimes problematic. Self-palpation may be utilized in the follow-up of these nodules. We developed a method of thyroid self-examination (TSE). We examined the size of the nodules palpable by this method by ultrasonography. In 78 patients exa...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.47.591

    authors: Takano T,Hasegawa Y,Amino N

    更新日期:2000-10-01 00:00:00

  • Pharmacological treatments for GH-induced insulin resistance.

    abstract::Troglitazone (T) and d-chiroinositol (DCI) have been reported to improve insulin resistance associated with obesity and NIDDM. We tested whether these compounds counteract the insulin antagonistic effects of recombinant human GH. Male Wistar rats were allocated to 4 different treatment groups, rhGH (n=8), rhGH+T (n=7)...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.46.suppl_s51

    authors: Sugimoto M,Takeda N,Hattori J,Yoshino K,Nakashima K,Okumura S,Ishimori M,Yasuda K

    更新日期:1999-03-01 00:00:00

  • Sex hormones play roles in determining musk composition during the early stages of musk secretion by musk deer (Moschus berezovskii).

    abstract::Musk is a secreted external hormone or information compound that is stored in musk scent glands of the males of species within the family Moschidae, such as Moschus berezovskii. The secretion of musk changes periodically during the courtship and reproduction periods, with the early stage of secretion occurring from Ma...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ18-0211

    authors: Fan M,Zhang M,Shi M,Zhang T,Qi L,Yu J,Li X,Lin S,Huang Z,Yang S,Zhou J,Li Y,Sun X,Cha M,Xu S,Liu Y,Guo X,Hu D,Liu S

    更新日期:2018-11-29 00:00:00

  • Metabolic syndrome influencing infarct size and heart failure in patients with acute coronary syndrome: does gender matter?

    abstract::Metabolic syndrome (MetS) is the occurrence of diabetes mellitus/glucose intolerance, arterial hypertension, central obesity, dyslipidemia, and microalbuminuria in the same patient (definition by WHO). Presence of metabolic syndrome is associated with larger myocardial infarction size and complications following acut...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej12-0131

    authors: Kranjcec D,Altabas V

    更新日期:2012-01-01 00:00:00

  • Collagenous colitis in a patient with Addison's disease: a case report.

    abstract::Diarrhea is a non-specific symptom which may be associated with Addison's disease and several causes had been demonstrated in the aetiology. We describe a patient with Addison's disease who was suffering from chronic diarrhea for three months. She was diagnosed as having collagenous colitis and successfully treated wi...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.45.581

    authors: Unlühizarci K,Bayram F,Ozbakir O,Kirgin A,Patiroglu T,Yücesoy M,Keleştimur F

    更新日期:1998-08-01 00:00:00

  • Sex-related differences in gene expression in neonatal rat hypothalamus assessed by cDNA microarray analysis.

    abstract::Sexual differentiation of the rodent brain is recognized to involve transcriptional activation of multiple genes induced by gonadal steroids at developmental stages. To identify the genes differing in expression level between sexes, we analyzed gene expression in male and female rat hypothalami at postnatal day 5 by m...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.49.131

    authors: Yonehara K,Suzuki M,Nishihara M

    更新日期:2002-04-01 00:00:00

  • Relationship between metabolic syndrome categorized by newly recommended by International Diabetes Federation criteria with plasma homocysteine concentration.

    abstract::Plasma total homocysteine (tHcy) is an independent risk factor for cardiovascular disease and increased tHcy levels have been reported to be a novel risk factor of atherosclerotic disease. The aim of this study was to assess the association of the metabolic syndrome components with plasma (tHcy) level. Total 722 parti...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07e-018

    authors: Rhee EJ,Hwang ST,Lee WY,Yoon JH,Kim BJ,Kim BS,Kang JH,Lee MH,Park JR,Sung KC

    更新日期:2007-12-01 00:00:00

  • Circulating levels of fibroblast growth factor 21 in gestational diabetes mellitus: a meta-analysis.

    abstract::In recent times, the role of fibroblast growth factor 21 (FGF21) in patients with gestational diabetes mellitus (GDM) has been increasingly investigated. However, to our knowledge, no systematic analysis has been conducted yet to evaluate the relationship between FGF21 levels and GDM. Confirmed studies related to circ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0481

    authors: Jia J,Wei W,Yu F,Liu R,Shen Y,Zhang R,Yuan G,Zhou H

    更新日期:2020-11-06 00:00:00

  • Correlation of the dysmetabolic risk factors with different anthropometric measurements.

    abstract::Metabolic syndrome is a common disorder in Taiwan. For this study 431 subjects were randomly selected from visitors to the Department of Health Management. Blood pressure, blood glucose, lipid, uric acid levels and anthropometric measurements with immunoreactive insulin (IRI) and leptin levels were all correlated. We ...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.52.139

    authors: Chiou WK,Lin JD,Weng HF,Ou YC,Liu TH,Fang JT

    更新日期:2005-02-01 00:00:00

  • Diagnosis and treatment of autoimmune and IgG4-related hypophysitis: clinical guidelines of the Japan Endocrine Society.

    abstract::Hypophysitis, which is often accompanied by pituitary dysfunction, is classified into several subtypes based on the cause, histology, and the location of inflammation in the pituitary gland. A definitive diagnosis requires pituitary biopsy, which is invasive, and the process is limited to specialized clinical settings...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ19-0569

    authors: Takagi H,Iwama S,Sugimura Y,Takahashi Y,Oki Y,Akamizu T,Arima H

    更新日期:2020-04-28 00:00:00

  • Bone mineral density in treated at a young age for differentiated thyroid cancer after Chernobyl female patients on TSH-suppressive therapy receiving or not Calcium-D3 supplementation.

    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

    authors: Leonova TA,Drozd VM,Saenko VA,Mine M,Biko J,Rogounovitch TI,Takamura N,Reiners C,Yamashita S

    更新日期:2015-01-01 00:00:00

  • Association of antipituitary antibody and type 2 iodothyronine deiodinase antibody in patients with autoimmune thyroid disease.

    abstract::Antipituitary antibody (APA) has been reported to be detected in patients with autoimmune thyroid disease. Type 2 iodothyronine deiodinase (D2) is expressed in both pituitary gland and thyroid gland. We studied the association of APA and D2 peptide antibody in patients with autoimmune thyroid disease. Rat pituitary gl...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.52.691

    authors: Nakahara R,Tsunekawa K,Yabe S,Nara M,Seki K,Kasahara T,Ogiwara T,Nishino M,Kobayashi I,Murakami M

    更新日期:2005-12-01 00:00:00

  • Long-term effects of thyroid hormone on lymphocyte subsets in spleens and thymuses of mice.

    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

    authors: Watanabe K,Iwatani Y,Hidaka Y,Watanabe M,Amino N

    更新日期:1995-10-01 00:00:00

  • Reduced circulating oxytocin and High-Molecular-Weight adiponectin are risk factors for metabolic syndrome.

    abstract::The neurohypophysial hormone, oxytocin, is involved in the regulation of energy metabolism. Adiponectin (APN) is an adipose tissue-specific serum protein that inversely associates with metabolic syndrome (MetS). High-molecular-weight adiponectin (HMW APN) is considered the active form. In the present study, we aimed t...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ16-0078

    authors: Yuan G,Qian W,Pan R,Jia J,Jiang D,Yang Q,Wang S,Liu Y,Yu S,Hu H,Sun W,Ye J,Mao C,Zhuang R,Zhou L

    更新日期:2016-07-30 00:00:00

  • False-positive staining of thyroglobulin distinguished from mixed medullary and follicular thyroid carcinoma by duplex in situ hybridization.

    abstract::Medullary thyroid carcinoma (MTC) may mimic mixed medullary and follicular thyroid carcinoma (MMFTC). MTC originates from para-follicular cells, while MMFTC is an uncommon tumor characterized by coexistence of follicular and para-follicular cell-derived tumor populations. A 35-year-old woman was diagnosed with MTC but...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.EJ20-0169

    authors: Takeshima K,Ariyasu H,Uraki S,Morita S,Furukawa Y,Inaba H,Iwakura H,Doi A,Warigaya K,Murata SI,Enomoto K,Hotomi M,Akamizu T

    更新日期:2020-10-28 00:00:00

  • Comparison of glycated albumin (GA) and glycated hemoglobin (HbA1c) in type 2 diabetic patients: usefulness of GA for evaluation of short-term changes in glycemic control.

    abstract::We studied the cross-sectional relationship between GA and HbA1c in 142 type 2 diabetic patients who had an HbA1c level < 7.5% for at least one year without fluctuation by more than 0.5%. We also followed the changes of GA and HbA1c in 18 type 2 diabetic patients for 16 weeks as they progressed from untreated severe h...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k06-103

    authors: Takahashi S,Uchino H,Shimizu T,Kanazawa A,Tamura Y,Sakai K,Watada H,Hirose T,Kawamori R,Tanaka Y

    更新日期:2007-02-01 00:00:00

  • Growth hormone (GH) or insulin-like growth factor (IGF)-I represses 11beta-hydroxysteroid dehydrogenase type 1 (HSD1) mRNA expression in 3T3-L1 cells and its activity in their homogenates.

    abstract::Patients with growth hormone (GH) deficiency (GHD) have a clinical feature of visceral adiposity and it has been reported that these patients have an increased active cortisol (F)/inactive cortisone (E) metabolite ratio. 11beta-hydroxysteroid dehydrogenase type 1 (11beta-HSD1) is an enzyme expressed in liver and adipo...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k08e-311

    authors: Morita J,Hakuno F,Hizuka N,Takahashi S,Takano K

    更新日期:2009-01-01 00:00:00

  • Association of osteoporosis susceptibility genes with bone mineral density and bone metabolism related markers in Koreans: the Chungju Metabolic Disease Cohort (CMC) study.

    abstract::In this study, we evaluated the association between bone mineral density (BMD) and 10 single-nucleotide polymorphisms (SNPs) within eight osteoporosis susceptibility genes that were previously identified in genome-wide association studies (GWASs). A total of 494 men and 493 postmenopausal women participating in the Ch...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.ej14-0119

    authors: Park SE,Oh KW,Lee WY,Baek KH,Yoon KH,Son HY,Lee WC,Kang MI

    更新日期:2014-01-01 00:00:00

  • Autonomously functioning thyroid nodule associated with thyrotoxic periodic paralysis.

    abstract::Thyrotoxic periodic paralysis (TPP) is mainly associated with Graves' disease but rarely with autonomously functioning thyroid nodule (AFTN). We herein report a case of AFTN associated with TPP in which the latter resolved after (131) I therapy for the former. We analyzed the genes encoding thyrotropin receptor (TSHR)...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.k07e-017

    authors: Ozaki H,Mori K,Nakagawa Y,Hoshikawa S,Ito S,Yoshida K

    更新日期:2008-03-01 00:00:00

  • High insulin impaired ovarian function in early pregnant mice and the role of autophagy in this process.

    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

    authors: Su Y,Wu J,He J,Liu X,Chen X,Ding Y,Zhang C,Chen W,Wang Y,Gao R

    更新日期:2017-06-29 00:00:00

  • Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report.

    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

    authors: Naito Y,Mori J,Tazoe J,Tomida A,Yagyu S,Nakajima H,Iehara T,Tatsuzawa K,Mukai T,Hosoi H

    更新日期:2019-12-25 00:00:00

  • Familial occurrence of subacute thyroiditis.

    abstract::Although subacute thyroiditis (de Quervain's thyroiditis) is presumed to be caused by a viral infection, only 2 familial occurrences of subacute thyroiditis have been reported in the literature. Typical and severe subacute thyroiditis was diagnosed in an older sister who was hospitalized for 8 days. During this period...

    journal_title:Endocrine journal

    pub_type: 杂志文章

    doi:10.1507/endocrj.49.207

    authors: Kabalak T,Ozgen AG

    更新日期:2002-04-01 00:00:00

  • Effects of miglitol versus sitagliptin on postprandial glucose and lipoprotein metabolism in patients with type 2 diabetes mellitus.

    abstract::Postprandial hyperglycemia and/or hyperlipidemia can contribute to development of atherosclerosis in patients with type 2 diabetes mellitus (T2DM). The objective of this study was to compare the effects of miglitol and sitagliptin on postprandial glucose and lipid metabolism in patients with T2DM. Thirty-five patients...

    journal_title:Endocrine journal

    pub_type: 杂志文章,随机对照试验

    doi:10.1507/endocrj.ej13-0019

    authors: Okada K,Yagyu H,Kotani K,Yamazaki H,Ozaki K,Takahashi M,Nagashima S,Osuga J,Ishibashi S

    更新日期:2013-01-01 00:00:00