KEIO RESEARCHERS INFORMATION SYSTEM

Profile 【 Display / hide 】

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

Career 【 Display / hide 】

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 】

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

Academic Degrees 【 Display / hide 】

Academic Degrees 【 Display / hide 】

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

Research Areas 【 Display / hide 】

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

Research Keywords 【 Display / hide 】

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 】

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.

Papers 【 Display / hide 】

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.

  • Access to Document (DOI)

• Age-dependent changes in infant head shape: a smartphone app-based study in Japan

  Narumi S., Honda Y., Kotoku Y., Eto H., Numasawa-Kuroiwa Y., Sakamoto Y., Kajita H., Miwa T., Nakahari A., Hosono S.

  Clinical Pediatric Endocrinology 35 ( 2 ) 152 - 160 2026.04

  ISSN  09185739

  　View Summary

  Head shape undergoes rapid changes during infancy, but the age-dependent changes in cranial asymmetry remain inadequately characterized. This study aims to analyze factors associated with these parameters, and to establish reference curves in Japanese infants. Two indices of head shape, the cranial vault asymmetry index (CVAI) and cranial index (CI) were collected from 127,605 Japanese infants via a smartphone app. We performed univariate and multivariate analyses to identify factors associated with CVAI and CI. Using 72,726 data derived from infants born via spontaneous vaginal delivery with normal birth weight, reference curves for CVAI and CI were constructed. CVAI exhibited a peak at 3–4 mo of age, followed by a gradual decline, whereas CI increased until approximately 6 mo of age. Boys had significantly higher CVAI than girls. Low birth weight was associated with low CI. Reference curves revealed distinct age-specific patterns, with CVAI peaking at 3–4 mo and declining thereafter, and CI increasing until around 6 mo. In conclusion, this study provides the first reference curves for CVAI and CI that can be applied for Japanese infants. The findings highlight the natural course of cranial asymmetry and proportionality, emphasizing the importance of age-specific assessment.

  • Access to Document (DOI)

• 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.

  • Access to Document (DOI)

• 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.

  • Access to Document (DOI)

• A Neonatal Manifestation of Geleophysic Dysplasia Type 1: A Case Report Highlighting Phenotypic Overlap With Al-Gazali Skeletal Dysplasia.

  Shimura K, Tsujioka Y, Kijima T, Ichihashi Y, Kushima R, Nishimura G, Hasegawa T, Narumi S

  Congenital anomalies 66 ( 1 ) e70058 2026.01

  ISSN  0914-3505

  • Access to Document (DOI)

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

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

• Pathogenesis of adrenal insufficiency in MIRAGE syndrome revealed by genetically modified mouse

  Narumi, Satoshi

  科学研究費補助金研究成果報告書 2023

• Utility of rapid genetic analysis for pediatric endocrine and metabolic diseases with crisis.

  Narumi, Satoshi

  学事振興資金研究成果実績報告書 (慶應義塾大学)  2023

• The pathogenesis of MIRAGE syndrome revealed by model mice using genome editing

  Narumi, Satoshi

  科学研究費補助金研究成果報告書 2020

• Model cell-line and model animals of MIRAGE syndrome

  Narumi, Satoshi

  科学研究費補助金研究成果報告書 2017

• Functional characterization of a novel TSH receptor mutation (V711fs) with protein instability

  Narumi, Satoshi

  科学研究費補助金研究成果報告書 2014

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Reviews, Commentaries, etc. 【 Display / hide 】

Reviews, Commentaries, etc. 【 Display / hide 】

• Long-term survival in MIRAGE syndrome: Insights into systemic manifestations and management with review of literature

  Yuki Yamada, Hidehito Kondo, Masashi Nishida, Zenro Kizaki, Kanako Tanase-Nakao, Satoshi Narumi, Jun Mori

  Endocrine Journal  2026

  ISSN  0918-8959

  • Access to Document (DOI)

• 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

  • Access to Document (DOI)

• 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

  • Access to Document (DOI)

• 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

  • Access to Document (DOI)

• 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

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

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 】

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 】

Courses Taught 【 Display / hide 】

• ADVANCED CLINICAL CLERKSHIP IN PEDIATRICS

  2026

• CLINICAL CLERKSHIP IN PEDIATRICS

  2026

• PEDIATRICS: PRACTICE

  2026

• ADVANCED PEDIATRICS

  2026

• LECTURE SERIES, PEDIATRICS

  2026

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Memberships in Academic Societies 【 Display / hide 】

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

Committee Experiences 【 Display / hide 】

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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