Tomohiro Ishii

Associate Professor

Keio University School of Medicine

Japan

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Research Interests

Clinical Nutrition

40%

Biochemistry

30%

Medical Science

90%

Endocrinology

60%

Birth Defect

50%

Rare Disease

50%

Hormone Therapy

30%

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Recent Grants

Grant: Close

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

Open Date: 2022-04-01

Close Date: 2025-03-01

Grant: Close

Elucidation of the mechanism how adrenogonadal progenitor cells in gonads are reprogrammed into gonadal steroidogenic cells

Open Date: 2019-04-01

Close Date: 2022-03-01

Grant: Close

Elucidation of the pathophysiology of steroid hormone biosynthesis in lipoid congenital adrenal hyperplasia by establishing a mouse or cell line model

Open Date: 2016-04-01

Close Date: 2019-03-31

Grant: Close

Elucidation of genotype-phenotype association and identification of the novel responsible genes in patients with 46,XY disorders of sex development

Open Date: 2014-04-01

Close Date: 2015-03-01

Grant: Close

In vivo functional analysis of mutant steroidogenic acute regulatory proteins and remodeling of adrenal glands and gonads in congenital lipoid adrenal hyperplasia

Open Date: 2014-04-01

Close Date: 2015-03-01

Tomohiro Ishii

Associate Professor

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Research Interests

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Recent Grants

Articles20

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

Biochemical monitoring of 21-hydroxylase deficiency: a clinical utility of overnight fasting urine pregnanetriol.

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

Siblings of neonatal hyperbilirubinemia with <i>UGT1A1</i> double missense variants.

Potential indication of chemotherapy for hypodipsia and arginine vasopressin deficiency secondary to hypothalamic-pituitary Langerhans cell histiocytosis: a case report and literature review.

Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia

A novel 2.4-kb PHKA2 deletion in a boy with glycogen storage disease type IXa.

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

Letter to the Editor regarding "Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis".

RMRP-related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review.

Potential usefulness of assessing serum betamethasone levels during betamethasone therapy

Two Japanese Infants With Hypothyroidism Following Exposure to Iodinated Contrast Media

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

Continuous glucose monitoring in an infant with panhypopituitarism having hypoglycemia on growth hormone therapy

Fetal growth restriction and a single umbilical artery are independent predictors of hypospadias during pregnancy.

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

Molecular Basis for Hypochondroplasia in Japan

GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.

The first adult case of cytochrome <scp>P450</scp> oxidoreductase deficiency with sufficient semen volume and sperm concentration

High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency.

Collaborators4

Tomonobu Hasegawa

Peter Kühnen

Keisuke Nagasaki

Satoshi Narumi

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