Shizuka Kirino
Tokyo, Japan
Last Updated: 09/26/2026
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Found 14 publications
Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency.
Journal: Endocrinology, diabetes & metabolism
Published: June 27, 2026
Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.
Journal: Endocrine journal
Published: November 24, 2025
A Two-Step LC-MS/MS method to differentiate 21OHD and PORD in Screen-Positive newborns.
Journal: Endocrine
Published: November 14, 2025
Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 30, 2025
Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 30, 2025
Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.
Journal: Journal of human genetics
Published: January 10, 2025
Analysis of Functional cis-Regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: September 05, 2024
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: January 09, 2024
A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.
Journal: The Journal of clinical endocrinology and metabolism
Published: May 31, 2023
Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: September 07, 2022
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant.
Journal: European journal of medical genetics
Published: April 29, 2022
Autonomously functioning thyroid nodule due to a somatic TSHR mutation.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: December 02, 2021
Last Updated: 09/26/2026