Ryosei Iemura

Gonadotropin Suppression During Mini‐Puberty as an Early Biomarker of Classic 21‐Hydroxylase Deficiency

Ryosei Iemura, Yuri Suzuki, Maki Gau, Ryuta Orimoto et autres

ABSTRACT Introduction Newborn screening (NBS) for congenital adrenal hyperplasia caused by 21‐hydroxylase deficiency (21OHD) relies on elevated 17‐hydroxyprogesterone (17OHP) levels but is limited by a high false‐positive rate and difficulty in distinguishing classic from non‐classic forms. To evaluate whether the suppression of …

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Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature

Maki Gau, Ryosei Iemura, Ryuta Orimoto, Eriko Adachi et autres

X-linked adrenal hypoplasia congenita (AHC) is a rare, life-threatening disorder caused by pathogenic variants in NR0B1 (DAX1), leading to adrenal insufficiency and hypogonadotropic hypogonadism. AHC is often associated with Xp21 contiguous gene deletion syndrome, which involves the deletion of multiple genes, including …

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Clinical features of neonatal Graves’ disease revealed by twelve cases that require- antithyroid therapy

Eriko Adachi, Ryosei Iemura, Yumi Tanaka, Hisae Nakatani et autres

Neonatal Graves’ disease (GD) is rare and serious condition with a complicated clinical course, its details of the clinical features have not been clarified. This study aimed to clarify the clinical course of neonatal GD cases requiring anti-thyroid treatment. We retrospectively analyzed …

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Fibrosis and severe steatosis contribute to liver dysfunction in patients with insulin resistance after hematopoietic stem cell transplantation

Haruki Yamano, Kei Takasawa, Reiko Kagawa, Yoko Saito et autres

Impact of the COVID-19 Pandemic on Epidemiological Trends in Pediatric Cervical Abscess-Forming Infections

Shuhei Takahashi, Ai Kishino, Kentaro Miyai, Shigeru Takishima et autres

Abscess-forming cervical bacterial infections are rare and serious infections. Methods: We retrospectively examined the trends in abscess-forming cervical bacterial infections in children who required inpatient treatment in three periods before (January 2016 to June 2020), during (July 2020 to December 2022) and …

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Classic 21‐hydroxylase deficiency in opposite‐sex twins

Shiori Shirakawa, Haruki Yamano, Ryosei Iemura, Akito Sutani et autres

The authors declare no conflicts of interest.

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Severe hepatic steatosis contributes to liver dysfunction in non‐obese patients with insulin‐resistant diabetes mellitus after hematopoietic stem cell transplantation

Haruki Yamano, Reiko Kagawa, Yoko Saito, Ryosei Iemura et autres

BACKGROUND: Non-obese survivors of childhood hematopoietic stem cell transplantation (HSCT) often exhibit severe insulin resistance and mild hepatic dysfunction. Although the exact pathophysiology remains unclear, one possible explanation is the increasingly recognized condition known as HSCT-associated partial lipodystrophy. In lipodystrophy, hepatic dysfunction …

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Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience

Kei Takasawa, Ryosei Iemura, Ryuta Orimoto, Haruki Yamano et autres

The most common cause of persistent hypoglycemia in newborns and children is congenital hyperinsulinism (CHI). Remarkable advancements in diagnostic tools and treatments, including novel imaging and genetic techniques, and continuous subcutaneous octreotide administration, have improved the prognosis of diazoxide-unresponsive CHI; however, in …

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Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL

Yuri Suzuki, Ryosei Iemura, Akito Sutani, Yuki Mizuno et autres

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote gene-adjusted, specific follow-up, and surveillance protocols for both patients and their families at risk. We report the case of a 7-yr-old boy with bilateral …

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BMP2 is a potential causative gene for isolated dextrocardia situs solitus

Analia Yogi, Ryosei Iemura, Hisae Nakatani, Kei Takasawa et autres

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Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report

Shizuka Kirino, Analia Yogi, Eriko Adachi, Hisae Nakatani et autres

INTRODUCTION: The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the …

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Supplementary Material for: Phenotypic Variation in 46,XX Disorders of Sex Development due to the 4th Zinc Finger Domain Variant of WT1 : A Familial Case Report

Shizuka Kirino, Yogi A.G., Eriko Adachi, H. Nakatani et autres

Introduction: The variants in the zinc finger (ZF) domains 1–3 in WT1 are one of the major causes of 46,XY disorders of sex development. Recently, the variants in fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the nine …