Narumi, Satoshi

写真a

Affiliation

School of Medicine, Department of Pediatrics ( Shinanomachi )

Position

Professor

External Links
Scopus Paper Info  
Paper Count: 179 Citation Count: 2372 h-index: 26

Click to view the Scopus page. The data was downloaded from Scopus API in March 29, 2026, via http://api.elsevier.com and http://www.scopus.com .

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Profile 【 Display / hide 】

  • 2001年慶大医学部卒業。母校の小児科学教室で4年間の臨床研修を行う。2005年から先天性内分泌疾患の分子遺伝学的研究に従事。2009年、慶應義塾大学大学院所定単位取得退学（同年、医学博士号取得）。博士研究員として研究を継続し、2012年には独力で次世代シーケンシング技術を用いた先天性内分泌疾患の包括的遺伝子診断システムを構築。MIRAGE症候群の発見（Narumi S et al., Nat Genet 2016）などの成果を挙げる。2016年から2023年まで国立成育医療研究センター研究所で室長として活動し、15番染色体非コード領域異常による先天性甲状腺機能低下症新規病型の発見（Narumi S et al., Nat Genet 2024）など小児内分泌領域の遺伝診療に関わる基盤的成果を挙げた。2023年からは教授として母校に復帰し、後進の育成に注力している。

    日本小児科学会フェロー賞、日本内分泌学会研究奨励賞、日本甲状腺学会七條賞、日本小児内分泌学会学術賞、日本人類遺伝学会奨励賞、慶應医学賞ライジング・スター賞、日本小児科学会学術研究賞、三四会賞（北島賞）、小児医学川野賞（基礎医学分野）など受賞多数。

    日本小児科学会認定 小児科専門医・指導医、臨床遺伝専門医制度委員会認定 臨床遺伝専門医、内分泌代謝科専門医（小児科）・指導医

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Career 【 Display / hide 】

  • 2001.04
    -
    2003.06

    Resident, Keio University Hospital (Department of Pediatrics)

  • 2001.05
    -
    2003.06

    Resident, Keio University Hospital (Department of Pediatrics)

  • 2003.07
    -
    2005.03

    Physician, Department of Pediatrics, Kawasaki Municipal Hospital

  • 2003.07
    -
    2005.06

    Physician, Department of Pediatrics, Kawasaki Municipal Hospital

  • 2009.04
    -
    2016.03

    Instructor, Department of Pediatrics, Keio University School of Medicine

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Academic Background 【 Display / hide 】

  • 2001.03

    Keio University, 医学部

    University, Graduated

  • 2009.11

    Keio University, Medicine, Internal Medicine

    Graduate School, Withdrawal after completion of doctoral course requirements, Doctoral course

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Academic Degrees 【 Display / hide 】

  • Ph.D., Keio University, Coursework, 2009.11

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Research Areas 【 Display / hide 】

  • Life Science / Molecular biology

  • Life Science / Pathological biochemistry

  • Life Science / Embryonic medicine and pediatrics

  • Life Science / Embryonic medicine and pediatrics

  • Life Science / Metabolism and endocrinology

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Research Keywords 【 Display / hide 】

  • MIRAGE症候群

  • Human genetics

  • human genetics

  • Endocrinology

  • 内分泌学

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Research Themes 【 Display / hide 】

  • Genomewide Copy Number Analysis in Patients with Thyroid Dysgenesis, 

    2009
    -
    2011

    　View Summary

    We tested whether copy number variations are involved in etiology of thyroid dysgenesis in this study.

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Papers 【 Display / hide 】

  • Within-individual changes in BMI and menstrual irregularity: a cohort study using real-world data

    Itoi S., Sampei M., Tatsumi T., Ishida R., Izumi G., Osuga Y., Koga K., Narumi S., Morisaki N.

    BMC Women S Health 26 ( 1 )  2026.12

    　View Summary

    Background: The impact of body mass index (BMI) on reproductive health is well-established, but the effect of within-individual changes in BMI on the menstrual cycle, a valuable and accessible indicator of reproductive health, remains less studied. This study aimed to investigate the association between changes in individuals’ BMI and menstrual irregularity. Methods: This cohort study analyzed data from a widely used menstrual tracking app in Japan. Menstrual cycle logs were collected from January 2019 to March 2021, and background information from questionnaires (Wave 1: Jan-Mar 2020; Wave 2: May-Jun 2020). Long-term BMI changes were defined as changes from age 18 to Wave 2, and short-term changes were defined as changes from Wave 1 to Wave 2. BMI was categorized as underweight (15–18.4), normal (18.5–22.9), and overweight/obese (23–35). Menstrual irregularity was defined as an individual’s average cycle length ranging outside the 24–38 day range. Results: A total of 126,008 cycles from 5,444 individuals were analyzed. Individuals with overweight/obesity who became normal weight long-term had significantly lower odds of menstrual irregularity (long-term: aOR 0.39, 95% CI 0.20–0.75; short-term: aOR 0.61, 95% CI 0.18–2.02) compared to those who remained overweight/obese. Conversely, increases from normal weight to overweight/obese increased the odds (long-term: aOR 2.02, 95% CI 1.50–2.71; short-term: aOR 2.53, 95% CI 1.31–4.90) compared to those who remained normal weight. No significant association was found for individuals with underweight. Conclusion: Within-individual changes in BMI influence menstrual irregularity. Long-term, but not short-term, reductions from overweight/obese BMI to the normal BMI category were associated with lower odds of irregular cycles, whereas increases from a normal BMI to overweight/obesity raised the risk. These findings highlight the importance of sustainable weight management in enhancing reproductive health.

  • A 1-year-old boy with MIRAGE syndrome and nephrotic syndrome, whose kidney histopathology revealed membranous nephropathy-like findings: a case report

    Ishimori S., Imaide A., Yokota T., Narumi S., Yoshikawa N.

    Pediatric Nephrology 41 ( 2 ) 357 - 360 2026.02

    ISSN  0931041X

    　View Summary

    MIRAGE syndrome is a rare multisystem disorder caused by gain-on-function SAMD9 variants. Kidney biopsies in some MIRAGE syndrome patients have shown glomerular sclerosis or interstitial nephritis. A boy with genetically confirmed MIRAGE syndrome, who showed microhematuria and nephrotic range proteinuria, underwent kidney biopsy at 18 months, revealing diffuse mesangial proliferation and partial segmental lobular accentuation associated with mesangial cell proliferation with neither crescentic lesions nor sclerotic glomeruli. Immunofluorescence staining showed diffuse granular deposition of IgG along the glomerular basement membrane and dominant deposition of IgG in the mesangial matrix. Electron microscopy revealed diffuse subepithelial electron-dense deposits. Treatment with prednisolone for membranous nephropathy-like findings was initiated but the proteinuria persisted. At 21 months of age, the patient died of multi-organ failure as a result of severe gastrointestinal infection and necrotizing enterocolitis. This is the first case with histologically membranous nephropathy-like findings and marked mesangial proliferation in a child with MIRAGE syndrome with nephrotic syndrome.

  • Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD

    Misa Honda, Satoshi Narumi, Kosei Hasegawa, Yoshimitsu Goto, Yusuke Kawashima, Osamu Ohara, Ryuji Fukuzawa, Tomohiro Ishii, Tomonobu Hasegawa

    The Journal of Clinical Endocrinology & Metabolism 111 ( 1 ) e83 - e91 2026.01

    ISSN  0021972X

    　View Summary

    Context: Primary adrenal insufficiency (PAI) is a rare, life-threatening condition, and at times is associated with differences of sexual differentiation (DSD). Cytochrome P450 enzymes, which are essential for steroidogenesis in adrenals and gonads, have heme in their active center. CPOX encodes an enzyme coproporphyrinogen oxidase (CPOX) that is involved in the synthesis of heme. Objective: This study aims to report the identification of biallelic inactivating CPOX variants in 3 unrelated patients with PAI and their clinical characteristics. Methods: We report 3 patients with childhood-onset PAI, including 2 with 46,XY DSD. All 3 had adrenal hypoplasia. Additionally, they commonly had severe neonatal jaundice; 2 developed skin blisters in the areas exposed to phototherapy and 2 showed severe neonatal anemia requiring transfusions. Exome sequencing was performed to explore the genetic basis of the patients. The pathogenicity of the identified variants was confirmed with targeted mRNA and proteomic analyses of the patient-derived peripheral blood cells. Results: We identified biallelic rare CPOX variants in each patient, including c.2T > G, p.Arg426*, c.1277G > A, and p.Tyr429Cysfs33*. The 3 patients commonly had the start codon-altering c.2T > G variant. Analysis of the mRNA and proteome of peripheral blood cells from 1 patient (c.2T > G and p.Arg426*) showed that CPOX mRNA expression was comparable to controls; however, CPOX protein expression was significantly decreased to 1%. Conclusion: We provided genetic evidence linking CPOX deficiency and PAI with 46,XY DSD, suggesting that the heme synthesis pathway plays an important role in human steroidogenesis.

  • Trends in timing of solid food introduction in Japan between 2014 and 2023: the impact of nutritional policy changes

    Sachiko Kaburagi, Tamaki Ito, Shunichiro Nakamura, Erika Nakamura, Tomoyuki Hattori, Takeshi Arimitsu, Munehiro Furuichi, Satoshi Narumi

    European Journal of Clinical Nutrition  2026

    ISSN  09543007

    　View Summary

    Following the LEAP and PETIT studies demonstrating that early allergen introduction can prevent food allergies, Japan’s Ministry of Health, Labor and Welfare revised its weaning guideline in 2019. The updated guideline recommended earlier egg introduction and noted that delaying specific foods may increase allergy risk. This study examined trends in the timing of solid food introduction among Japanese infants before and after this revision. We conducted a retrospective analysis using data from the parenting application Papatto Ikuji collected between 2014 and 2023. After excluding outliers and errors, 59,433 infants were analyzed. The age at solid food introduction was examined by birth year. From 2014 to 2018, the age distribution showed two peaks at 5 and 6 months. After 2019, the 6-month peak declined, leaving a single 5-month peak by 2021. These findings suggest that national guideline revisions substantially influenced caregivers’ feeding behaviors, leading to earlier solid food introduction in Japan.

  • Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome

    Machiko Toki, Satoshi Narumi, Junko Hanakawa, Reiko Iwano, Yumi Asakura, Hideaki Ueda, Kenji Kurosawa, Tomonobu Hasegawa, Koji Muroya

    Endocrine Journal 73 ( 3 ) 375 - 382 2026

    ISSN  09188959

    　View Summary

    Children with Down syndrome (DS) have a high prevalence of thyroid dysfunction; however, age-related changes in thyroid hormone profiles remain unclear. We investigated the age-related changes in thyroid function in children with DS. We retrospectively analyzed the thyroid function test results of 762 patients with DS aged 3–14 years without known thyroid disease, and compared them with those of 764 age-matched controls with idiopathic short stature. Serum thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), and free thyroxine (FT4) levels and the FT3/FT4 ratio were compared between patients with DS with/without congenital heart disease (CHD) and gastrointestinal malformations. In each age group, the log-transformed TSH distribution exhibited similar standard deviation and kurtosis, but showed consistently higher mean values in patients with DS than in controls. Mean FT3 levels were slightly lower in the DS group, except at ages 11–12 years. Mean FT4 levels were slightly lower in the DS group after 9 years of age. The mean FT3/FT4 ratio was lower in the DS group at ages 3–8 years but normalized after 9 years of age. Patients with DS and CHD had higher TSH levels than those without CHD after 11 years of age, whereas FT3, FT4, and the FT3/FT4 ratio showed no significant differences. A rightward shift in serum TSH distribution was observed in patients with DS without thyroid disease, suggesting that TSH levels are generally high in patients with DS. These variations highlight the need for personalized management of thyroid function in patients with DS.

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

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Reviews, Commentaries, etc. 【 Display / hide 】

  • Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.

    Shima H, Nakagawa T, Kojima-Ishii K, Miura A, Fujiwara I, Narumi S, Kikuchi A, Kanno J

    Hormone research in paediatrics    1 - 6 2025.06

    ISSN  1663-2818

  • Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD

    Misa Honda, Satoshi Narumi, Kosei Hasegawa, Yoshimitsu Goto, Yusuke Kawashima, Osamu Ohara, Ryuji Fukuzawa, Tomohiro Ishii, Tomonobu Hasegawa

    The Journal of Clinical Endocrinology & Metabolism  2025.06

    ISSN  0021-972X

  • Oral ethosuximide treatment in a child with short bowel syndrome

    Chuma K., Ogawa E., Takenouchi T., Yamada Y., Fujino A., Narumi S.

    Pediatrics International 67 ( 1 ) e70250 2025.01

    ISSN  13288067

  • くり返す尿路感染症と非典型的外性器を契機にチトクロームP450酸化還元酵素(POR)欠損症の診断にいたった5歳女児例

    平松直子, 三森愛美, 成田知聡, 吉田志帆, 澁谷聡一, 志村和浩, 市橋洋輔, 古賀寛之, 春名英典, 田久保憲行, 石井智弘, 鳴海覚志, 長谷川奉延, 東海林宏道

    小児内科 57 ( 7 )  2025

    ISSN  0385-6305

  • 非古典型21水酸化酵素欠損症兄弟例の11-oxygenated androgens

    高橋修平, 堀尚明, 木内歌穂, 草野知江子, 安達恵利子, 鹿島田健一, 鹿島田健一, 石井智弘, 鳴海覚志, 長谷川奉延

    日本ステロイドホルモン学会学術集会プログラム・抄録集(Web) 32nd 2025

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

  • 非コード領域に着目した先天性内分泌疾患に関わるゲノム異常の研究

    2023.04
    -
    2027.03

    基盤研究(B), Principal investigator

  • 遺伝子改変マウスを用いたMIRAGE症候群における副腎機能低下症の病態解明

    2021.04
    -
    2024.03

    日本学術振興会, 科学研究費助成事業, 基盤研究(C), No Setting

    　View Summary

    内因性Sf1プロモーター・エンハンサーによりCreリコンビナーゼを発現するマウス（以下Sf1 promoter Creマウス）を九州大学から譲り受けた。Sf1 promoter Creマウスは、マウスSf1遺伝子の５'領域106kb - Creリコンビナーゼ遺伝子- Sf1遺伝子の3’領域100kbを有し、Sf1プロモーターおよび副腎特異的エンハンサーにより副腎皮質にCreリコンビナーゼが強発現する。我々は既に、Creリコンビナーゼにより、ヒト野生型SAMD9遺伝子を発現するマウス（SAMD9-WTマウス）、およびMIRAGE症候群で認めたヒトSAMD9点変異p.R1293Wを発現するマウス（SAMD9-MTマウス）を作成した（平成30年―令和2年度（基盤研究(C)(2)）研究課題番号 18K08527））。今回、SAMD9-WTマウスあるいはSAMD9-MTマウスとSf1 promoter Creマウスを掛け合わせ、胎児期から野生型SAMD9あるいは変異型SAMD9を副腎に強発現する遺伝子改変マウス（それぞれSAMD9-WT副腎発現マウス、およびSAMD9-MT副腎発現マウス）を作成した。SAMD9-WT副腎発現マウス20匹全例は4週齢まで生存し、現在さらに飼育継続中である。一方SAMD9-MT副腎発現マウス9匹のうち6匹は日齢0-1に死亡した。生存中の雌2匹は成獣となり、妊孕性を保持していた。生存中の雄1匹は現在5週齢であるが、同年齢のSAMD9-WT副腎発現マウスに比し、明らかな体重増加不良を示した。日齢0-1に死亡したSAMD9-MT副腎発現マウス3匹の副腎を含む諸臓器をホルマリン固定して保存した。血中ナトリウム、カリウム、糖、ACTH、コルチコステロン測定用にSAMD9-WT副腎発現マウス３匹およびSAMD9-MT副腎発現マウス１匹の血清を保存した。

  • 小児・AYA世代におけるMDSの発生機序と治療戦略の解明

    2021.04
    -
    2024.03

    日本学術振興会, 科学研究費助成事業, 基盤研究(C), No Setting

    　View Summary

    本研究は本邦の小児からAYA世代のMDSの先天性素因の同定と臨床データを合わせて統合解析を行い、発生機序の解明と治療戦略へ繋げる。成人MDSは加齢性変化の影響が大きいが、小児・AYAのMDSは遺伝的要因による造血幹細胞の脆弱性から、感染、炎症による造血ストレス環境、内因性アルデヒド代謝の違いなどにより、骨髄不全の進行と早期のクローン性造血に至ると考えられる。遺伝、環境とも多様な因子があり、未解明な部分が多い。小児科・血液内科・基礎研究を一元的に行い、先天性素因を把握する。令和3年度は症例集積と解析を進めていった。その中で、染色体異常der(1;7)(q10;p10)が、小児、AYA世代の主要な先天性素因であるGATA2異常症においてmonosomy 7に次ぐ特徴であることがわかった。これはドイツ、米国との国際共同研究に加わり、多数例の検討を行った結果であり、そのまま論文発表に至ることができた(Blood.2021;138(23):2441-2445.）。今後とも検討すべき課題はあり、国際共同研究を発展させるべく協力を継続していく。今年度も小児領域、成人領域をまたがる形で、小児科、血液内科との共同研究を開始し、遺伝子解析系とデータベースの構築に努める。また引き続き先天性素因を疑わせる核型異常に注目して、小児、AYA世代のMDS、AML症例を中心に造血転写因子の生殖細胞系列バリアントの解析を開始する。先行解析として20例の当該症例において解析系の構築を進めている。

  • 乳児に発症する炎症性腸疾患と造血不全の原因となる新たな単一遺伝子疾患の確立

    2021.04
    -
    2024.03

    日本学術振興会, 科学研究費助成事業, 基盤研究(C), No Setting

  • Dissecting transcription factors using proximity labeling analyses

    2019.06
    -
    2021.03

    Japan Society for the Promotion of Science, Grants-in-Aid for Scientific Research, Narumi Satoshi, Grant-in-Aid for Challenging Research (Exploratory), No Setting

    　View Summary

    Transcriptional regulation is a molecular mechanism that controls the turning on and off of gene functions, but understanding of which molecules are involved in this regulation is lacking. In this study, we employed proximity labeling analysis, a new technique to discover molecular interactions, to analyze transcription factors involved in congenital diseases. As a result, we detected several previously unknown interactions in addition to the previously known ones. This study demonstrates the broad applicability of proximity labeling analysis in the study of transcriptional regulatory mechanisms.

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Awards 【 Display / hide 】

  • 小児医学川野賞（基礎医学分野）

    2025.03, 川野小児医学奨学財団, 先天性内分泌疾患の分子病態の解明

    Type of Award： Award from publisher, newspaper, foundation, etc.

  • 小児医学川野賞（基礎医学分野）

    2025.03, 川野小児医学奨学財団, 先天性内分泌疾患の分子病態の解明

  • 三四会賞（北島賞）

    2024.06, 慶應義塾大学医学部三四会, 先天性内分泌疾患の分子基盤の解明

    Type of Award： Keio commendation etc.

  • 日本小児内分泌学会　最優秀演題賞

    2023.10, 日本小児内分泌学会

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

  • .

    Satoshi Narumi, 2022.04, Japan Pediatric Society, 新規単一遺伝子疾患MIRAGE症候群の発見

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

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Courses Taught 【 Display / hide 】

  • PEDIATRICS: SEMINAR

    2025

  • PEDIATRICS: PRACTICE

    2025

  • LECTURE SERIES, PEDIATRICS

    2025

  • DEVELOPMENTAL MEDICINE

    2025

  • CLINICAL CLERKSHIP IN PEDIATRICS

    2025

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Memberships in Academic Societies 【 Display / hide 】

  • 日本甲状腺学会, 

    2009.04
    -
    Present

  • 日本内分泌学会, 

    2005.04
    -
    Present

  • 日本人類遺伝学会, 

    2005.04
    -
    Present

  • 日本小児内分泌学会, 

    2004.04
    -
    Present

  • 日本小児科学会, 

    2001.04
    -
    Present
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Committee Experiences 【 Display / hide 】

  • 2009.04
    -
    Present

    Member, 日本甲状腺学会

  • 2005.04
    -
    Present

    会員, 日本内分泌学会

  • 2005.04
    -
    Present

    会員, 日本人類遺伝学会

    　View Remarks

    2009年-　臨床遺伝専門医

  • 2005.04
    -
    Present

    Member, 日本内分泌学会

  • 2005.04
    -
    Present

    Member, 日本人類遺伝学会

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