Ishii, Tomohiro

写真a

Affiliation

School of Medicine, Department of Pediatrics (Shinanomachi)

Position

Associate Professor

External Links
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Career 【 Display / hide 】

  • 1992.04
    -
    1994.06

    Keio University School of Medicine,, Department of Pediatrics, Resident (Pediatrics)

  • 1994.07
    -
    1996.07

    Ota General Hospital, Department of Pediatrics, Residenct (Pediatrics)

  • 1996.08
    -
    2000.05

    Keio University School of Medicine, Department of Pediatrics, Instructor

  • 2000.06
    -
    2005.03

    University of Texas Southwestern Medical Center, Division of Endocrinology and Metabolism, Department of internal medicine, Postdoctoral research fellow

  • 2005.04
    -
    2013.04

    Keio University School of Medicine, Department of Pediatrics, Instructor

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Academic Background 【 Display / hide 】

  • 1986.04
    -
    1992.03

    Keio University, School of Medicine

    University, Graduated

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Academic Degrees 【 Display / hide 】

  • Steroidogenic acute regulatory protein欠損マウスの表現型における高密度リポ蛋白と性腺刺激ホルモンの関与, Keio University, Dissertation

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Licenses and Qualifications 【 Display / hide 】

  • Medical licence

  • Certified Pediatrician, 1996.04

  • Certified Expert Clinical Geneticist, 2005.12

  • Board-certified Endocrinologist, 2006.04

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Research Areas 【 Display / hide 】

  • Life Science / Metabolism and endocrinology

  • Life Science / Embryonic medicine and pediatrics

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Research Keywords 【 Display / hide 】

  • steroid hormone

  • Adrenal cortex

  • Adrenal insufficiency

  • Disorders of sex development

  • Hypogonadism

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Research Themes 【 Display / hide 】

  • Mechanism of cholesterol transfer by steroidogenic acute regulatory protein, 

    2000.06
    -
    Present

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Books 【 Display / hide 】

  • Transcriptome Analysis of Adrenocortical Cells in Health and Disease

    Ishii T., Cellular Endocrinology in Health and Disease, Second Edition, 2021.01

    　View Summary

    The transcriptome is the complete set of transcripts in a specific type of cell or tissue. Generally, the goal of transcriptome analysis is to identify genes differentially expressed among different conditions, leading to a new understanding of the genes or pathways associated with the conditions. Transcriptome analysis requires an appropriate statistical method with a multiple comparison test to interpret global changes in the expression of thousands of genes. This chapter overviews and describes recent progress in the transcriptome analysis of adrenocortical cells. Strategies for determining transcriptomes and data processing to interpret analysis have been discussed. Representative studies have been introduced: an adrenocortical cell line with small interference RNA-knockdown experiment revealed steroidogenic factor-1 functions as a “regulone” that orchestrate tissue-specific steroidogenic regulation and housekeeping metabolic regulation and a mouse model for human lipoid congenital adrenal hyperplasia indicated a reciprocal interaction between steroidogenic cells and adjacent macrophages both fulfilled with cholesterol ester droplets. Analysis of global transcript profiling will be an essential tool for future research on the nature of adrenocortical cells.

  • Cellular endocrinology in health and disease

    ISHII TOMOHIRO, Academic Press, 2014.03

    Scope: Transcriptome analysis of adrenocortical cells in health and disease

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Papers 【 Display / hide 】

  • Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: Report of three female cases from two pedigrees

    Nabeshima Y., Sato T., Zukeran H., Komatsu R., Nakano S., Ichihashi Y., Tominaga T., Miwa M., Amano N., Ishii T., Hasegawa T.

    Journal of Pediatric Endocrinology and Metabolism (Journal of Pediatric Endocrinology and Metabolism)  36 ( 8 ) 786 - 790 2023.08

    ISSN  0334018X

    　View Summary

    Objectives: The role of serum fibroblast growth factor 23 (FGF23) level in early neonatal period on the diagnosis of X-linked hypophosphatemic rickets (XLH) remains unclear. Case presentation: Two female patients from the first pedigree had an affected mother, and the other female from the second pedigree had an affected father. In all three cases, FGF23 levels were high in cord blood and peripheral blood at day 4-5. Additionally, the FGF23 levels considerably increased from birth to day 4-5. We identified a PHEX pathogenic variant and initiated treatment during infancy in each case. Conclusions: In neonates with a parent diagnosed as PHEX-associated XLH, FGF23 in cord blood and peripheral blood at day 4-5 may be useful markers for predicting the presence of XLH.

  • Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review

    Kuranari Y., Miwa T., Kono M., Shibata H., Ishii T., Hasegawa T.

    Child's Nervous System (Child's Nervous System)  39 ( 4 ) 1065 - 1069 2023.04

    ISSN  02567040

    　View Summary

    Central nervous system germ cell tumors (CNSGCTs) are rare neoplasms which usually develop in the midline structures. They are occasionally involved in off-midline structures of the brain. Here, we report an extremely rare case of an intracranial germinoma in the lateral ventricle. The patient was a 10-year-old boy with a 1-year history of polydipsia and polyuria. Brain magnetic resonance imaging (MRI) showed a relatively homogeneously enhancing lesion in the lateral ventricle, and the posterior pituitary gland was not hyperintense on T1-weighted imaging. Subependymoma was suspected, and tumor removal operation was performed; however, because the intraoperative pathological investigation revealed germinoma, we could only perform partial removal of the tumor. Postoperative histology also confirmed germinoma. Then, the patient received chemotherapy, followed by radiation therapy. MRI showed no recurrence for 6 years after treatment. Intracranial germinoma in the lateral ventricle is extremely rare. The diagnosis is occasionally challenging, especially when the tumors are located in atypical locations. This paper presents a literature review of previously described CNSGCTs of the lateral ventricle to improve awareness of CNSGCTs in atypical locations. We also consider the relationship between imaging findings and clinical manifestations.

  • Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

    Sato T., Inokuchi M., Nakano S., Iwabuchi Y., Hayashida T., Ishii T., Hasegawa T.

    Radiology Case Reports (Radiology Case Reports)  18 ( 1 ) 91 - 93 2023.01

    　View Summary

    A 43-year-old woman with genetically confirmed glycogen storage disease type Ib was suspected to have left breast cancer. Fluorodeoxyglucose-positron emission tomography showed high fluorodeoxyglucose accumulation in the whole liver as well as left mammary gland. We consider that high fluorodeoxyglucose accumulation in the liver of patients with glycogen storage disease type I is caused by impaired glucose-6-phosphate metabolism due to the congenital deficiency of glucose-6-phosphatase activities in hepatocytes. This study describes fluorodeoxyglucose-positron emission tomography as a potential alternative tool to diagnose glycogen storage disease type I functionally.

  • Potential risk of inguinal hernia in complete androgen insensitivity syndrome

    Kimizuka Y., Sato T., Nakano S., Ishii T., Hasegawa T.

    Clinical Pediatric Endocrinology (Clinical Pediatric Endocrinology)  32 ( 1 ) 76 - 78 2023

    ISSN  09185739

  • Potential benefit of rapid genetic testing for Pallister–Hall syndrome

    Maeda-Usui A., Sato T., Nakano S., Kusakawa M., Kin T., Takahashi N., Motojima Y., Asanuma H., Hida M., Ishii T., Kuroda T., Hasegawa T.

    Clinical Pediatric Endocrinology (Clinical Pediatric Endocrinology)  32 ( 2 ) 119 - 122 2023

    ISSN  09185739

    　View Summary

    Pallister–Hall syndrome (PHS) is defined as a group of characteristic manifestations caused by a monoallelic GLI3 pathogenic variant. A two-month-old infant was referred to our institution because of undetermined sex. The infant had atypical genitalia with postaxial polysyndactyly, a hypothalamic mass, and an imperforate anus. We identified a known pathogenic variant of the GLI3 gene within one week and diagnosed the infant with PHS. The parents assigned the infant as male, considering the 46,XY karyotype, normal testosterone secretion, possible male identity, and the natural history of PHS. In infants with atypical genitalia and other malformations, such as polydactyly, a hypothalamic mass, or an imperforate anus, rapid GLI3 testing may provide information for planning lifelong management, including sex assignment.

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Papers, etc., Registered in KOARA 【 Display / hide 】

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Reviews, Commentaries, etc. 【 Display / hide 】

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Research Projects of Competitive Funds, etc. 【 Display / hide 】

  • The role of ZNRF3/Znrf3 exon2 deletion on zonation and maintenance of the adrenal cortex

    2022.04
    -
    2025.03

    MEXT,JSPS, Grant-in-Aid for Scientific Research, 基盤研究(C), Principal investigator

  • Identification of adrenogonadal progenitor cells in the gonads which can be reprogrammed into adrenal steroidogenic cells

    2019.04
    -
    2022.03

    MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Scientific Research (C), Principal investigator

  • リポイド副腎過形成症モデルマウスと細胞株によるステロイドホルモン生合成機構の 解明

    2016.04
    -
    2019.03

    Grant-in-Aid for Scientific Research, Research grant, Principal investigator

  • 次世代遺伝子解析装置を用いた46,XY性分化疾患の責任遺伝子-表現型の関連解析と新規責任遺伝子の同定

    2014.04
    -
    2015.03

    公益財団法人 川野小児医学奨学財団, 川野正登記念研究助成, Research grant, Principal investigator

  • 内因性ステロイドホルモン産生制御機構下におけるsteroidogenic acute regulatory proteinの機能解析と先天性リポイド副腎過形成症の副腎・性腺リモデリングの病態解析

    2014.04
    -
    2015.03

    公益財団法人小児医学研究振興財団, 研究助成金, Research grant, Principal investigator

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Awards 【 Display / hide 】

  • Young Investigator’s Award in 2nd Congress of Asian Society for Pediatric Research

    2006.12

  • Travel Award in The Endocrine Society’s 88th annual meeting

    2006.06

  • Clinical Research Award

    2022.11, Japanese Society for Pediatric Endocrinology

    Type of Award： Award from Japanese society, conference, symposium, etc.

  • 日本小児科学会　学術研究賞

    2016.05, Japan Pediatric Society

  • Science Award

    2014.09, Japanese Society for Pediatric Endocrinology

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Courses Taught 【 Display / hide 】

  • LECTURE SERIES, PEDIATRICS

    2024

  • CLINICAL CLERKSHIP IN PEDIATRICS

    2024

  • ADVANCED CLINICAL CLERKSHIP IN PEDIATRICS

    2024

  • LECTURE SERIES, PEDIATRICS

    2023

  • CLINICAL CLERKSHIP IN PEDIATRICS

    2023

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Courses Previously Taught 【 Display / hide 】

  • Growth, development, and maturation

    Keio University

    2018.04
    -
    2019.03
    , 

    Spring Semester, Lecture, Within own ｆaculty

  • Neonatal mass screening

    Keio University

    2018.04
    -
    2019.03
    , 

    Spring Semester, Lecture, Within own ｆaculty

  • Neonatal mass screening

    Keio University

    2017.04
    -
    2018.03
    , 

    Spring Semester, Lecture, Within own ｆaculty

  • Neonatal mass screening

    Keio University

    2016.04
    -
    2017.03
    , 

    Spring Semester, Lecture, Within own ｆaculty

  • Neonatal mass screening

    Keio University

    2015.04
    -
    2016.03
    , 

    Spring Semester, Lecture, Within own ｆaculty

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Memberships in Academic Societies 【 Display / hide 】

  • The Japan Pediatric Society

    　

  • The Japanese Society for Pediatric Endocrinology

    　

  • The Japan Endocrine Society

    　

  • The Endocrine Society

    　

  • The Japan Society of Human Genetics

    　
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Committee Experiences 【 Display / hide 】

  • 2017.09
    -
    Present

    理事, 日本小児内分泌学会

  • 2017.05
    -
    Present

    評議員, 日本生殖内分泌学会

  • 2015.07
    -
    Present

    評議員, 日本人類遺伝学会

  • 2014.07
    -
    Present

    成長ホルモン治療研究専門委員, 成長科学協会

  • 2013.07
    -
    Present

    東京都地区委員, 成長科学協会

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