• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Genetic analysis in patients with hypogonadotropic hypogonadism accompanied by dysosmia -Analysis of the KAL1 gene in patient with Kallmann syndrome-

Research Project

Project/Area Number 13672420
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Laboratory medicine
Research InstitutionOsaka University

Principal Investigator

IZUMI Yukiko  Osaka University, Graduate School of Medicine, Assistant, 医学系研究科, 助手 (60314316)

Co-Investigator(Kenkyū-buntansha) TATSUMI Keita  Osaka University, Graduate School of Medicine, Lecturer, 医学系研究科, 講師 (00222109)
OKAMOTO Shingo  Nara Medical University, Third Department of Internal Medicine, Assistant Professor, 第3内科, 助教授 (10086572)
Project Period (FY) 2001 – 2004
Project Status Completed (Fiscal Year 2004)
Budget Amount *help
¥4,000,000 (Direct Cost: ¥4,000,000)
Fiscal Year 2004: ¥200,000 (Direct Cost: ¥200,000)
Fiscal Year 2003: ¥200,000 (Direct Cost: ¥200,000)
Fiscal Year 2002: ¥200,000 (Direct Cost: ¥200,000)
Fiscal Year 2001: ¥3,400,000 (Direct Cost: ¥3,400,000)
KeywordsKallmann Syndrome / Hypogonadotropic Hypogonadism / Dysosmia / KAL1 gene / Hemirenal Hypoplasia / Mirror Movement / KAL1 protein
Research Abstract

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 gene in 19 Japanese patients with Kallmann syndrome using PCR-direct sequencing method. All of 19 patients were sporadic, except for two male monozygotic twins. Seventeen patients were males and two were females. In this study, we found three kinds of novel mutations in the KAL1 gene. One of them existed in monozygotic twins.
The severity of hypogonadism was riot related to the presence of mutations or polymorphisms. Unilateral renal aplasia and mirror movement, which are frequently hand in patients with the KAL1 gene mutations, were not related to the sites of mutations.
In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14% : 2 of 14 cases) was slightly higher than that in patients in USA (8%). But there was no significant difference between the two groups as shown by Fisher's exact test. Meanwhile we found two polymorphisms, such as Ile534Val and Ile611, which were always found together in 6 patients.
Mutations in the KAL1 gene previously reported were widely distributed from exon 1 to exon 13 and different among families except at two sites. In our study, one mutation was inherited from mother and another mutation derived from the patient. Therefore these mutations could not have been derived from common ancestor by a founder gene effect. We consider that mutation in the KAL1 gene is difficult to be inherited because of male infertility.

Report

(5 results)
  • 2004 Annual Research Report   Final Research Report Summary
  • 2003 Annual Research Report
  • 2002 Annual Research Report
  • 2001 Annual Research Report
  • Research Products

    (34 results)

All 2003 2002 2001 Other

All Journal Article (32 results) Publications (2 results)

  • [Journal Article] Practical treatment with minimum maintenance dose of anti-thyroid drugs for prediction of remission in Graves' disease.2003

    • Author(s)
      Kashiwai T
    • Journal Title

      Endocrine Journal 50

      Pages: 45-49

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Blocking type anti-TSH receptor antibodies and relation to responsive ness to antithyroid drug therapy and remission in Graves' disease.2003

    • Author(s)
      Tada H
    • Journal Title

      Clinical Endocrinology 58

      Pages: 403-408

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Increased serum concentration of eosinophil-derived neurotoxin in patients with Graves' disease.2003

    • Author(s)
      Hidaka Y
    • Journal Title

      Thyroid 13

      Pages: 129-132

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Possible induction of Graves' disease and painless thyroiditis by gonadotropin-releasing hormone analogues.2003

    • Author(s)
      Amino N
    • Journal Title

      Thyroid 13

      Pages: 815-818

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Association of seasonal allergic rhinitis is high in Graves' disease and low in painless thyroiditis.2003

    • Author(s)
      Amino N
    • Journal Title

      Thyroid 13

      Pages: 811-814

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Relation between post-partum liver dysfunction and anti-cytochrome 2D6 antibodies.2003

    • Author(s)
      Izumi Y
    • Journal Title

      American Journal of Reproductive Immunology 50

      Pages: 355-362

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] No increase of blocking type anti-thyrotropin receptor antibodies during pregnancy in patient's with Graves' disease.2003

    • Author(s)
      Amino N
    • Journal Title

      Journal of Clinical Endocrinology and Metabolism 88

      Pages: 5871-5874

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Practical treatment with minimum maintenance dose of anti thyroid drugs for prediction of remission in Graves' disease.2003

    • Author(s)
      Kashiwai T.
    • Journal Title

      Endocrine Journal 50

      Pages: 45-49

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Blocking type anti-TSH receptor antibodies and relation to responsiveness to antithyroid drug therapy and remission in Graves' disease.2003

    • Author(s)
      Tada H.
    • Journal Title

      Clinical Endocrinology (Oxf) 58

      Pages: 403-408

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Increased serum concentration of eosinophil-derived neurotoxin in patients with Graves' disease.2003

    • Author(s)
      Hidaka Y.
    • Journal Title

      Thyroid 13

      Pages: 129-132

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Possible induction of Graves' disease and painless thyroiditis by gonadotropin-releasing hormone analogues.2003

    • Author(s)
      Amino N.
    • Journal Title

      Thyroid 13

      Pages: 815-818

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Association of seasonal allergic rhinitis is high in Graves' disease and low in painless thyroiditis.2003

    • Author(s)
      Amino N.
    • Journal Title

      Thyroid 13

      Pages: 811-814

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Relation between postpartum liver dysfunction and anti-cytochrome 2D6 antibodies.2003

    • Author(s)
      Izumi Y.
    • Journal Title

      American Journal of Reproductive Immunology 50

      Pages: 355-362

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] No increase of blocking type anti-thyrotropin receptor antibodies during pregnancy in patient's with Graves' disease.2003

    • Author(s)
      Amino N.
    • Journal Title

      Journal of Clinical Endocrinology and Metabolism 88

      Pages: 5871-5874

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Anti-CYP2D6 antibodies detected by quantative radioligand assay and relation to antibodies to liver-specific arginase in patients with autoimmune hepatitis.2002

    • Author(s)
      Kimura M
    • Journal Title

      Clinica Chimica Acta 316

      Pages: 155-164

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Community postnatal care and women's health.2002

    • Author(s)
      Amino N
    • Journal Title

      Lancet 360

      Pages: 410-410

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Simple and practical parameters for differentiation between destruction-induced thyrotoxicosis and Graves' thyrotoxicosis.2002

    • Author(s)
      Izumi Y
    • Journal Title

      Clinical Endocrinology 57

      Pages: 51-58

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Development of liver dysfunction after delivery is possibly due to postpartum autoimmune hepatitis. A report of three cases.2002

    • Author(s)
      Izumi Y
    • Journal Title

      Journal of Internal Medicine 252

      Pages: 361-367

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Anti-CYP2D6 antibodies detected by quantative radioligand assay and relation to antibodies to liver specific arginase in patients with autoimmune hepatitis.2002

    • Author(s)
      Kimura M.
    • Journal Title

      Clinica Chimica Acta 316

      Pages: 155-164

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Community postnatal care and women's health.2002

    • Author(s)
      Amino N.
    • Journal Title

      Lancet 360(9330)

      Pages: 410-410

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Simple and practical parameters for differentiation between destruction-induced thyrotoxicosis and Graves' thyrotoxicosis.2002

    • Author(s)
      Izumi Y.
    • Journal Title

      Clinical Endocrinology(Oxf) 57

      Pages: 51-58

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Development of liver dysfunction after delivery is possibly due to postpartum autoimmune hepatitis. A report of three cases.2002

    • Author(s)
      Izumi Y.
    • Journal Title

      Journal of Internal Medicine 252

      Pages: 361-367

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Analysis of the K4L1 gene in 19 Japanese patients with Kallmann syndrome.2001

    • Author(s)
      Izumi Y
    • Journal Title

      Endocrine Journal 48

      Pages: 143-149

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Serum concentration of androstenediol and androstenediol sulfate in patients with hyperthyroidism and hypothyroidism.2001

    • Author(s)
      Tagawa N
    • Journal Title

      Endocrine Journal 48

      Pages: 345-354

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Characteristics of experimental autoimmune hypophysitis in rats : Major antigens are growth hormone, thyrotropin, and luteinizing hormone in this model.2001

    • Author(s)
      Watanabe K
    • Journal Title

      Autoimmunity 33

      Pages: 265-274

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Blocking type anti-TSH receptor antibodies detected by radioreceptor assay in Graves' disease.2001

    • Author(s)
      Tada H
    • Journal Title

      Endocrine Journal 48

      Pages: 703-710

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] 女性と甲状腺疾患2001

    • Author(s)
      泉 由紀子
    • Journal Title

      産婦人科治療 82.Suppl.

      Pages: 974-980

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Kallmann症候群の原因遺伝子2001

    • Author(s)
      泉 由紀子
    • Journal Title

      内分泌・糖尿病科 13

      Pages: 21-28

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.2001

    • Author(s)
      Izumi Y.
    • Journal Title

      Endocrine Journal 48

      Pages: 143-149

    • NAID

      10007023163

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Serum concentration of androstenediol and androstenediol sulfate in patients with hyperthyroidism and hypothyroidism.2001

    • Author(s)
      Tagawa N.
    • Journal Title

      Endocrine Journal 48

      Pages: 345-354

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Characteristics of experimental autoimmune hypophysitis in rats : Major antigens are growth hormone, thyrotropin, and luteinizing hormone in this model.2001

    • Author(s)
      Watanabe K.
    • Journal Title

      Autoimmunity 33

      Pages: 265-274

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Journal Article] Blocking type anti-TSH receptor antibodies detected by radioreceptor assay in Graves' disease.2001

    • Author(s)
      Tada H.
    • Journal Title

      Endocrine Journal 48

      Pages: 703-710

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2004 Final Research Report Summary
  • [Publications] Yukiko Izumi: "Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome"Endocrine Journal. 48・2. 143-149 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 泉 由紀子: "Kallmann症候群の原因遺伝子"内分泌・糖尿病科. 13・1. 21-28 (2001)

    • Related Report
      2001 Annual Research Report

URL: 

Published: 2001-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi