Details of a Researcher - Hasegawa, Tomonobu

最新主要文献とガイドラインでみる小児科学レビュー

長谷川奉延, 加藤元博監修, 総合医学社, 2024.08
最新主要文献とガイドラインでみる小児科学レビュー

長谷川奉延監修 ; 加藤元博監修, 総合医学社, 2023.08, Page： 268
からだの性 = sex characteristics

長谷川, 奉延, 佐々木, 掌子, 国土社, 2022.06

Contact page： p40-43
ターナー症候群の0.35mg/kg/週による成長ホルモン治療後の成人身長―TRC共同研究―　

田中敏章、神崎晋、田島敏広、田中弘之、西美知、長谷川奉延、堀川玲子、横谷進、依藤亨, 日本成長学会雑誌, 2018

Scope: 24(2) 64-69
内分泌代謝専門医ガイドブック　改訂第4版　

HASEGAWA TOMONOBU, 診断と治療社, 2016.04

Scope: 低身長

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Papers 【 Display / hide 】

DHX37 Variant Is One of the Common Genetic Causes in Japanese Patients with Testicular Regression Syndrome/Partial Gonadal Dysgenesis without Müllerian Derivatives

Shimura K., Ichihashi Y., Nakano S., Sato T., Hamajima T., Numasawa K., Narumi S., Hasegawa T., Ishii T.

Hormone Research in Paediatrics 98 ( 2 ) 206 - 213 2025.04

ISSN 16632818

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Introduction: The testicular regression syndrome (TRS) is a form of differences of sex development (DSD) in which the testes differentiate and function during early embryonic development, but subsequently regress. The clinical phenotype of TRS often overlaps with that of partial gonadal dysgenesis (PGD). Previous studies have demonstrated a causal association between TRS/ PGD and heterozygous missense variants of DHX37. Methods: We enrolled 11 Japanese 46,XY individuals (from 10 families) with TRS/PGD who exhibited undetected or hypoplastic testes, Müllerian duct regression, and low serum testosterone or anti- Müllerian hormone levels. The subjects underwent targeted sequencing of 36 known causative genes for DSD, PCR-based Sanger sequencing of DHX37, or whole-exome sequencing. Results: Previously described pathogenic variants or novel nonsense variants (SRY, NR5A1, and DMRT1) were observed in four out of 10 families. Additionally, we identified two heterozygous rare variants of DHX37 in four families: a previously reported pathogenic variant (c.923G>A, p.Arg308Gln) in three and a novel likely pathogenic variant (c.1882A>C, p.Thr628Pro) in one. The external genitalia of patients with the DHX37 variants varied from female-type to male-type without micropenis. Eighty percent of Japanese patients with TRS/PGD had monogenic disorders including DHX37 variant being the most commonly identified (40%). The external or internal genital phenotype of TRS/PGD overlaps between DHX37 variant carriers and others. Conclusions: DHX37 variant is one of the common genetic causes in Japanese patients with TRS/PGD without Müllerian derivatives. Genetic test is helpful in detecting DHX37- related TRS/PGD because of the phenotypic diversity of the external genitalia in this disorder.
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Reference Values of Arm Span and Arm Span to Height Ratio of Japanese Population in Childhood and Adolescence: Comparison With Dutch and Turkish Population

Hirano Y., Inokuchi M., Narumi S., Hasegawa T.

American Journal of Human Biology 37 ( 4 ) 2025.04

ISSN 10420533

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Objectives: To establish age-specific reference values for the arm span and arm span/height ratio of the Japanese population in children and adolescence and elucidate their characteristics compared with those of other populations. Study Design: We analyzed data from a national survey on the body sizes of Japanese people conducted between 1992 and 1994 by the Research Institute of Human Engineering for Quality Life. This study was an observational cross-sectional study, including 6089 boys and 4970 girls aged between 5.5 and 18.5 years. We constructed the reference values and delineated the reference curves for the arm span and arm span/height ratio of the Japanese population in childhood and adolescence using the LMS method. The references were compared with those of the Dutch and Turkish populations using the reference curve of 0 standard deviation. Results: The arm span of the Japanese population increased throughout childhood, with a particularly large increase at the age of puberty. The arm span/height ratio also increased slowly throughout childhood. The Japanese population had a smaller arm span/height ratio than the Dutch and Turkish populations of all ages in childhood and adolescence. Moreover, the arm span/height ratio of the Japanese population reached a constant value at an earlier age than in the Dutch and Turkish populations. Conclusions: We constructed the first reference values for the arm span of Japanese children and adolescents. The Japanese population has shorter arm lengths in relation to their height, and their arm span/height ratio reaches a constant value at an earlier age, compared with the Dutch and Turkish populations.
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Sex education to an adolescent male with Down syndrome in a single-mother family in Japan

Saito A., Sato T., Shima H., Yamagishi H., Narumi S., Ishii T., Hasegawa T.

Pediatrics International 67 ( 1 ) 2025.01

ISSN 13288067
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ACVRL1 and MTHFR double variants in an adolescent with paradoxical cerebral embolism

Sato T., Ichihashi Y., Tsuruta H., Chu P.S., Akiyama T., Hishida T., Hasegawa T.

Pediatrics International 67 ( 1 ) 2025.01

ISSN 13288067
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Recovery from Atrophic Autoimmune Thyroiditis in a Child: Thyroid Stimulation-Blocking Antibody as a Prognostic Marker

Kusano C., Hori N., Hasegawa T., Narumi S.

Hormone Research in Paediatrics 2025

ISSN 16632818

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Introduction: Atrophic autoimmune thyroiditis (AAT) is a form of autoimmune hypothyroidism characterized by the absence of a goiter. Thyroid stimulation-blocking antibody (TSBAb) has been detected in a subset of pediatric AAT cases. Although the disappearance of TSBAb has been related with the recovery of thyroid function in adult AAT cases, similar outcomes have not been documented in pediatric cases. Case Presentation: A 2-year-old Japanese boy presented for evaluation of stunted growth from1 year 10 months of age. Tests for congenital hypothyroidism were negative on newborn screening, and he had no significant medical history. However, he showed symptoms of hypothyroidism (inactiveness, hair loss, dry skin), and primary hypothyroidism was confirmed by blood test (serum TSH level, 818 mU/L; serum free T4 level, <0.40 ng/ dL). The patient exhibited a unique antibody profile: positive for TSH receptor antibody (TRAb) and TSBAb and negative for anti-thyroglobulin antibody (TgAb) and antiperoxidase antibody (TPOAb). He was treated with levothyroxine, after which his growth was normalized. During the 8-year follow-up, the patient's TSBAb levels decreased, allowing for the discontinuation of levothyroxine therapy. Conclusion: We reported the case of a 2-year-old boy diagnosed with AAT who presented with a characteristic antibody profile, negative for TgAb and TPOAb, but positive for TRAb and TSBAb. During 8 years of follow-up, TSBAb seroconversion to negative was observed, leading to treatment discontinuation at age 10 years. This case suggests that monitoring of TSBAb after a diagnosis of AAT may be used to determine treatment discontinuation even in children.
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Papers, etc., Registered in KOARA 【 Display / hide 】

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

Hasegawa, Tomonobu

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

Hasegawa, Tomonobu

科学研究費補助金研究成果報告書 2017
Prevalence, clinical manifestation, and molecular mechanism of congenital hypothyroidism due to DUOX2 abnormality

Hasegawa, Tomonobu

科学研究費補助金研究成果報告書 2013
Can simultaneous mutations in TSHR and DUOX2 cause congenital hypothyroidism?

Hasegawa, Tomonobu

科学研究費補助金研究成果報告書 2013
Molecular mechanisms and pathophysiology of congenital hypothyroidism

Hasegawa, Tomonobu

科学研究費補助金研究成果報告書 2010

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Reviews, Commentaries, etc. 【 Display / hide 】

Response to Letter to the Editor From Janot et al: “Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia”

Amano N., Narumi S., Ishii T., Hasegawa T.

Journal of Clinical Endocrinology and Metabolism 109 ( 9 ) 2024.09

ISSN 0021972X
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A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism

Kimura-Yoshida A., Sato T., Ichihashi Y., Wasa M., Narumi S., Ishii T., Hasegawa T.

Clinical Pediatric Endocrinology 33 ( 4 ) 244 - 248 2024

ISSN 09185739
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Parathyroid adenoma with a somatic CASR pathogenic variant: A pediatric case report

Kawata K., Sato T., Honda M., Narumi S., Kameyama K., Ishii T., Hasegawa T.

Pediatric Blood and Cancer 70 ( 12 ) 2023.12

ISSN 15455009
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Gonadotropin-dependent precocious puberty in a female offspring who is a potential carrier for BRCA2 pathogenic variant: An additional consideration for gonadotropin-releasing hormone agonist treatment

Tsuura K., Sato T., Nakano S., Ishii T., Hasegawa T.

Pediatric Blood and Cancer 70 ( 6 ) 2023.06

ISSN 15455009
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A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly

Uchida N., Mizuno Y., Seno S., Koyama Y., Takahashi T., Shibata H., Narumi S., Hasegawa T., Ishii T.

Clinical Pediatric Endocrinology 32 ( 1 ) 79 - 81 2023

ISSN 09185739
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Presentations 【 Display / hide 】

フロントラインの先生方にぜひご理解いただきたい医療安全”超”入門　

長谷川　奉延

第109回日本泌尿器科学会総会　卒後教育プログラム　,

2021.12
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Oral presentation (invited, special)
総排泄腔遺残症術後遠隔期における腟形成術と当院DSDセンターの取り組み

加藤源俊、城崎浩、山岸徳子、工藤裕実、梅山知成、金森洋樹、鈴木悠史、高橋信博、内田明花、小林佑介、山田洋平、石井智弘、浅沼宏、長谷川奉延、黒田達夫

第77回直腸肛門奇形研究会,

2021.10
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Oral presentation (general)
副腎低形成症の新たな遺伝的病因の同定：ZNRF３遺伝子のエクソン２欠失

天野直子、鳴海覚志、会津克哉、宮澤真理、勝又規行、石井智弘、長谷川奉延

第５４回日本小児内分泌学会学術集会,

2021.10
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Other
完全型アンドロゲン不応症の診断後に鼠経ヘルニアを呈した一例：診断時の遺伝カウンセリングのピットフォール

君塚優、佐藤武志、中野さつき、加藤源俊、市橋洋輔、浅沼宏、石井智弘、黒田達夫、長谷川奉延。

第22回日本内分泌学会関東甲信越支部学術集会,

2021.09
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Oral presentation (general)
電気化学発光免疫測定法(ECLIA)によりエストラジオール(E2)偽高値を呈した早発乳房の一例

古澤恭平、蜂屋瑠見、柴田浩憲、内田登、石井智弘、長谷川奉延、佐々木悟郎、福島裕之

第220回日本小児科学会千葉地方会,

2021.09
,
Oral presentation (general)

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

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

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2024.03

MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Scientific Research (C), Principal investigator
MIRAGE症候群: ゲノム編集による疾患モデルマウスの作成と病態解明

2018.04

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2021.03

MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Scientific Research (C), Principal investigator
副腎ホルモン産生異常に関する調査研究

2017.04

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2020.03

厚生労働省, 厚生労働省難治性疾患政策研究事業, Principal investigator
Model cell-line and model animals of MIRAGE syndrome

2015.04

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2018.03

MEXT,JSPS, Grant-in-Aid for Scientific Research, Grant-in-Aid for Scientific Research (C), Principal investigator
StARノックアウトマウスによるリポイド副腎過形成と神経ステロイドホルモンの解析

2003.04

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2005.03

Grant-in-Aid for Scientific Research, Research grant, No Setting