Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level [0.03%]
电化学发光免疫分析法测量雌二醇的误区：一个假性(pubertal)女孩血清雌二醇水平升高的病例研究
Kyohei Furusawa,Rumi Hachiya,Hironori Shibata et al.
Kyohei Furusawa et al.
A novel variant of IGSF1 in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups [0.03%]
罹患先天性中枢性甲状腺功能减退症的兄弟的新IGSF1基因变异体，其诊断由学校健康检查提示
Yoshiko Yamamura,Maki Fukami,Misayo Matsuyama et al.
Yoshiko Yamamura et al.
Following the partial revision of the enforcement regulations of the School Health and Safety Act, school health checkups incorporated growth evaluation of schoolchildren in April 2016 using growth charts. We report cases of congenital cent...
Switching to burosumab from conventional therapy in siblings with relatively well-controlled X-linked hypophosphatemia [0.03%]
从常规疗法转换到布罗索姆-ab治疗X-连锁低磷血症且病情相对控制良好的兄弟中的应用
Shintaro Senoo,Masanobu Fujimoto,Yukiko Yamaguchi et al.
Shintaro Senoo et al.
Burosumab, a fully human monoclonal antibody against fibroblast growth factor 23, is mainly administered to patients with severe X-linked hypophosphatemia (XLH). However, there have been few reports on its use in relatively mild cases. In t...
A Japanese school urine screening program led to the diagnosis of KCNJ11-MODY: A case report [0.03%]
日本某学校的尿筛查计划导致了KCNJ11-MODY的诊断：病例报告
Akito Hattori,Koji Okuhara,Yasuhiro Shimizu et al.
Akito Hattori et al.
Although KCNJ11 mutation is the main cause of neonatal diabetes mellitus, reports of maturity-onset diabetes in the young (MODY) related to KCNJ11 are rare. Here, we report a case of KCNJ11-MODY in a 12-yr-old Japanese female. Hyperglycemia...
A thyroid adenoma in a pubertal male with thyroxine-binding globulin deficiency [0.03%]
甲状腺结合球蛋白缺乏青春期男性患者的甲状腺腺瘤
Heeyung Kim,Yasuhiro Naiki,Megumi Iwahashi-Odano et al.
Heeyung Kim et al.
Complete deficiency of thyroxin-binding globulin (TBG-CD) is not commonly associated with clinical symptoms, and little is known about thyroid tumors associated with TBG-CD. We present a case report of an asymptomatic follicular adenoma tha...
A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY [0.03%]
一个SRY新错义变异的完全性生殖腺发育不全症病例报告（46,XY）
Chisato Narita,Noriyuki Takubo,Manami Sammori et al.
Chisato Narita et al.
Disorders of sex development (DSD) with mild external genital abnormalities may be diagnosed after puberty. Here, we report a case of 46,XY complete gonadal dysgenesis with a novel missense variant in sex-determining region Y (SRY), diagnos...
Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods [0.03%]
五个日本假性软骨发育不全患者的新型和复发性COMP基因变异：从新生儿期到婴儿期的骨骼变化
Kosei Hasegawa,Natsuko Futagawa,Yuko Ago et al.
Kosei Hasegawa et al.
Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by pathogenic variants of cartilage oligomeric matrix protein (COMP). Clinical symptoms of PSACH are characterized by growth disturbances after the first year o...
Treatment strategy for maturity-onset diabetes of the young 3 (MODY3): Experience with two sisters and their mother [0.03%]
成人起病的青年发病糖尿病3型(MODY3)的治疗策略——两姐妹及其母亲的诊治经验
Yoshihiko Yuyama,Tomoyuki Kawamura,Yuko Hotta et al.
Yoshihiko Yuyama et al.
Maturity onset diabetes of the young (MODY) is a relatively young-onset diabetes mellitus with an autosomal dominant inheritance. Among these phenotypes, MODY3, caused by mutations in HNF1A, is one of the most frequent. Although MODY3 is kn...
Utility of basal and peak TSH values in TRH stimulation testing for predicting the long-term therapeutic prognosis of primary congenital hypothyroidism [0.03%]
基础和刺激后TSH值对原发性先天性甲状腺功能减退症长期治疗转归的预测价值
Kazuhiro Shimura,Kento Ikegawa,Yukihiro Hasegawa
Kazuhiro Shimura
In Japan, most neonates undergo screening for congenital hypothyroidism (CH). A TRH stimulation test (TRH-T) may be performed after initial treatment as a useful method for reevaluating the patient's thyroid status. However, no studies have...
Analysis of the distribution of adult height standard deviation scores in relation to prepubertal height standard deviation scores using longitudinal growth data: -Investigation of the catch-up rates of children with short stature to attain normal adult height [0.03%]
基于纵向生长数据，分析成人身高标准差评分与学龄前儿童身高标准差评分的分布关系：矮小儿童追赶速度对成年期身高达到正常的补偿作用的研究
Toshiaki Tanaka,Susumu Yokoya,Keisuke Yoshii
Toshiaki Tanaka
Using the longitudinal growth data of 13,809 individuals in the Akita Prefecture, the percentage distributions of their adult height (AH) standard deviation scores (SDS) in relation to their prepubertal height SDS were obtained. The AH SDS ...