Attitude survey on Japanese parents of children visiting the hospital for consultation on early puberty [0.03%]
日本儿童因性早熟就诊家长态度调查
Akiko Saito-Hakoda,Aki Nishii
Akiko Saito-Hakoda
Globally, the incidence of precocious puberty increases with a decline in age of pubertal onset. Simultaneously, the rate of hospital referrals for children in early puberty has increased. This study is the first survey of Japanese parents ...
A case of latent autoimmune diabetes in the young positive for zinc transporter 8 antibody with type 2 diabetes characteristics [0.03%]
一项特殊青年隐匿性自身免疫糖尿病病例报告：锌转运体8抗体阳性且具有2型糖尿病特征
Takaaki Matsuda,Yoshinori Osaki,Nao Soma et al.
Takaaki Matsuda et al.
Latent autoimmune diabetes in the young (LADY), also known as slowly progressive insulin-dependent diabetes mellitus (SPIDDM), is a slowly progressive form of type 1 diabetes (T1D) characterized by positive islet-related autoantibodies and,...
Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing [0.03%]
基于靶向下一代测序的干血斑基因 panel 检测在 46,XY 性发育 disorder 诊断中的应用价值研究
Erika Uehara,Kazuhisa Akiba,Keiko Matsubara et al.
Erika Uehara et al.
Rapid genetic diagnosis of differences/disorders of sex development (DSD) through minimally invasive testing is desirable. In this study, we performed PCR amplicon-based next-generation sequencing (NGS) targeting AR and SRD5A2 using dried b...
Kosei Hasegawa
Kosei Hasegawa
Osteogenesis imperfecta (OI) is a congenital skeletal disorder characterized by varying degrees of bone fragility and deformities. Extraskeletal manifestations, such as blue sclera, dentinogenesis imperfecta, growth disturbance, hearing imp...
A case of congenital hypopituitarism harboring a nonsense variant in the LHX4 gene [0.03%]
LHX4基因错义变异导致的先天性垂体功能减退症病例报告
Mikiko Koizumi,Yuri Etani,Saori Kinoshita et al.
Mikiko Koizumi et al.
Significance of assessing the severity of craniosynostosis in patients with X-linked hypophosphatemia (XLH) at diagnosis [0.03%]
X连锁低磷血症（XLH）患者初诊时评估颅缝早闭严重程度的意义
Shintaro Terashita,Takuya Akai,Ikue Hata et al.
Shintaro Terashita et al.
Toshiaki Tanaka
Toshiaki Tanaka
[This corrects the article DOI: 10.1297/cpe.2021-0044.]. 2025©The Japanese Society for Pediatric Endocrinology.
Yuko Tsujioka,Yoshitake Yamada,Tomonobu Hasegawa et al.
Yuko Tsujioka et al.
We review the imaging findings in pediatric thyroid diseases that necessitate prompt diagnosis and timely medical intervention. Congenital hypothyroidism particularly represents a critical pediatric emergency. Ultrasonography stands as the ...
Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D-dependent rickets type 2A: A case report [0.03%]
补钙治疗维生素D依赖性佝偻病2A型患儿骨骼畸形及皮肤丘疹组织病理的影响：1例报告
Kosei Hasegawa,Tomoko Miyake,Mina Kobashi et al.
Kosei Hasegawa et al.
Vitamin D-dependent rickets type 2A (VDDR2A) is an autosomal recessive disease caused by pathogenic variants of the vitamin D receptor (VDR) gene. VDDR2A rickets are usually resistant to native or active vitamin D treatment because of impai...
Cutoff value of serum 25-hydroxyvitamin D leading to vitamin D deficiency for children in Japan [0.03%]
日本儿童维生素D缺乏的血清25-羟基维生素D切割值
Yasuko Ogiwara,Nao Shibata,Akira Ishii et al.
Yasuko Ogiwara et al.
The 25-hydroxyvitamin D [25(OH)D] level and clinical symptoms are used to diagnose vitamin D deficiency (VDD). The current 25(OH)D cutoff value is based on biochemical findings, such as elevated parathyroid hormone (PTH) levels, rather than...