Initial clinical manifestations in a young male with RFX6-variant-associated diabetes [0.03%]
RFX6变异相关糖尿病的青年男性患者的初始临床表现
Kazuhisa Akiba,Hiroaki Zukeran,Yukihiro Hasegawa et al.
Kazuhisa Akiba et al.
To date, heterozygous loss-of-function variants of RFX6 have been identified in 13 families with diabetes. Here, we present initial clinical information regarding a young male with diabetes who carried a heterozygous nonsense variant of RFX...
Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL [0.03%]
VHL新移码突变导致的家族性和儿童复发性嗜铬细胞瘤
Yuri Suzuki,Ryosei Iemura,Akito Sutani et al.
Yuri Suzuki et al.
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 ...
A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism [0.03%]
一名患垂体功能低下性性腺功能低下的男婴中发现的SOX2转录激活域内新的移码致病突变
Ayano Kimura-Yoshida,Takeshi Sato,Yosuke Ichihashi et al.
Ayano Kimura-Yoshida et al.
Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases [0.03%]
两例儿童起病的缓慢进展性1型糖尿病患者内源性胰岛素分泌能力及抗胰岛自身抗体滴度的变化趋势
Dai Suzuki,Hirohito Shima,Sayaka Kawashima et al.
Dai Suzuki et al.
Slowly progressive insulin-dependent (type 1) diabetes mellitus (SPIDDM) is a subtype of type 1 diabetes. Although SPIDDM is not rare among Japanese children, there are few reports on endogenous insulin secretory capacity and anti-pancreati...
Delayed menarche in children and adolescents with type 1 diabetes mellitus: a systematic review and meta-analysis [0.03%]
1型糖尿病儿童及青少年继发性青春期延迟的系统评价和.meta.分析
Nida Ghitha,Nabila Vathania,Lowilius Wiyono et al.
Nida Ghitha et al.
Several studies have reported an association between age at menarche and the onset of type-1 diabetes mellitus (T1DM). This review compared the age at menarche in patients who had menarche after T1DM diagnosis with that of patients who were...
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience [0.03%]
单中心起源的不适宜使用 Diazoxide 治疗的先天性高胰岛素血症的临床管理经验
Kei Takasawa,Ryosei Iemura,Ryuta Orimoto et al.
Kei Takasawa et al.
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 subcut...
Severe growth retardation during carbohydrate restriction in type 1 diabetes mellitus: A case report [0.03%]
一例1型糖尿病患儿低碳水化合物饮食导致生长迟缓的病例报告
Sayaka Kawashima,Chisumi Sogi,Miki Kamimura et al.
Sayaka Kawashima et al.
Carbohydrate restriction is not typically recommended for children with type 1 diabetes mellitus (T1DM) because of concerns regarding growth retardation, ketoacidosis, severe hypoglycemia, and dyslipidemia. There is no consensus regarding t...
Use of a long-term continuous glucose monitor for predicting sulfonylurea dose in patients with neonatal diabetes mellitus: a case series [0.03%]
持续葡萄糖监测预测新生儿糖尿病患者磺脲类药物剂量的使用：系列病例报道
Koji Tagawa,Katsuyuki Matsui,Atsushi Tsukamura et al.
Koji Tagawa et al.
Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that presents with uncontrolled hyperglycemia during the first 6 months of life. NDM is a rare disease in which gene variants mainly cause β-cell loss or dysfunction (6q24 du...
Siblings of neonatal hyperbilirubinemia with UGT1A1 double missense variants [0.03%]
UGT1A1双错义变异的新生儿高胆红素血症患儿的同胞兄弟姐妹
Yoshiki Kubota,Takeshi Sato,Mai Matsuyama et al.
Yoshiki Kubota et al.
Adipsic hypernatremia with marked hyperprolactinemia and GH deficiency in a 9-year-old boy [0.03%]
一名9岁男孩出现显著催乳素和GH缺乏的低食欲性高钠血症病例报告
Hisato Segoe,Akie Nakamura,Kimiaki Uetake et al.
Hisato Segoe et al.
Adipsic hypernatremia is typically caused by congenital dysplasia of the hypothalamus and pituitary or brain tumors. However, cases of adipsic hypernatremia without underlying organic abnormalities are rare, and some cases have been reporte...