Combined pituitary hormone deficiency in a patient with an FGFR1 missense variant: case report and literature review [0.03%]
FGFR1错义变异患者的联合垂体激素缺乏症：病例报告和文献回顾
Shinichiro Sano,Yohei Masunaga,Fumiko Kato et al.
Shinichiro Sano et al.
Recent studies have indicated that heterozygous loss-of-function variants in fibroblast growth factor receptor 1 (FGFR1) are involved in the development of congenital hypogonadotropic hypogonadism and combined pituitary hormone deficiency (...
Successful transition from insulin to sulphonylurea in a child with neonatal diabetes mellitus diagnosed beyond six months of age due to C42R mutation in the KCNJ11 gene [0.03%]
由于KCNJ11基因C42R突变而在6个月后诊断的新生儿糖尿病患儿从胰岛素顺利过渡到磺脲类药物治疗
Sarah Wing-Yiu Poon,Brian Hon-Yin Chung,Mandy Ho-Yin Tsang et al.
Sarah Wing-Yiu Poon et al.
Neonatal diabetes mellitus is a rare monogenic condition affecting 1 in 100,000-300,000 live births. Mutations in the subunits of ATP-sensitive potassium (KATP) channels, which are the central gatekeepers of electrical activity, are the com...
Hyperandrogenism correlates with psychological symptoms in adolescents with polycystic ovary syndrome [0.03%]
青少年多囊卵巢综合征患者高雄激素血症与心理症状相关性研究
Zeynep Donbaloğlu,Hale Tuhan,Özge Gizli Çoban et al.
Zeynep Donbaloğlu et al.
This study aimed to analyze the depressive and anxiety states of adolescent girls with polycystic ovary syndrome (PCOS). This was a cross-sectional, multicenter, case-control study. A total of 100 participants (PCOS group, 51; control group...
High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency [0.03%]
一例21-羟化酶缺乏症女婴短期需要大剂量氟氢可的松治疗
Yusuke Kawasaki,Takeshi Sato,Satsuki Nakano et al.
Yusuke Kawasaki et al.
For salt-wasting 21-hydroxylase deficiency (21OHD), fludrocortisone (FC) is usually supplemented at 0.05-0.2 mg/d dose. To date, no report has described 21OHD neonates requiring > 0.4 mg/d of FC. Our female 21OHD patient was lethargic and e...
Severe hypernatremia in soft drink ketoacidosis and hyperglycemic hyperosmolar state at the onset of type 2 diabetes mellitus: a case series of three adolescents [0.03%]
糖尿病二级糖尿病 mellitus 起始的严重高渗性状态和酮症软饮酸中毒的重度高钠血症：三个青少年病例系列
Soo Jeong Choo,Hyun Gyung Lee,Chan Jong Kim et al.
Soo Jeong Choo et al.
Diabetic ketoacidosis (DKA) and hyperglycemic hyperosmolar state (HHS) are diabetic emergencies. Some patients with a hyperglycemic crisis can present with an overlap of DKA and HHS. The coexistence of DKA and HHS is associated with higher ...
Various phenotypes of short stature with heterozygous IGF-1 receptor (IGF1R) mutations [0.03%]
异构体IGF1受体(IGF1R)突变的矮小表型多样性
Yuki Kawashima-Sonoyama,Tomoyuki Hotsubo,Takashi Hamajima et al.
Yuki Kawashima-Sonoyama et al.
Type 1 insulin-like growth factor receptor (IGF1R) plays an important role in normal fetal and postnatal growth. Over 30 pathogenic variants of IGF1R have been identified in patients with short stature. Yet, 20 years after the first report,...
Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: a case report [0.03%]
抗利尿激素类似物治疗AVPR2突变所致部分性肾源性尿崩症有效：1例报告
Kento Ikegawa,Rumi Hachiya,Kazuhisa Akiba et al.
Kento Ikegawa et al.
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease that causes polydipsia and polyuria, and there are currently no effective treatments for most cases, particularly severe ones. The present report describes the case of a 1-yr...
Autoimmune thyroid disease following hematopoietic stem cell transplantation in childhood cancer survivors [0.03%]
儿童癌症幸存者造血干细胞移植后自身免疫性甲状腺疾病的发生
Shunsuke Shimazaki,Itsuro Kazukawa,Masanori Minagawa
Shunsuke Shimazaki
Thyroid dysfunction has been observed in childhood cancer survivors (CCSs) who have undergone hematopoietic stem cell transplantation (HSCT). We retrospectively analyzed the thyroid function of 54 CCSs who underwent HSCT and were referred t...
Transient hypercalcemia followed by hypocalcemia in a preterm infant after maternal magnesium sulfate therapy [0.03%]
早产儿一例：母体使用硫酸镁治疗后的暂时性高血钙症继发低血钙症
Takahiro Tominaga,Kazushige Ikeda,Midori Awazu
Takahiro Tominaga
Maternal use of magnesium sulfate has been associated with neonatal hypocalcemia and bone changes. We report the case of a preterm male infant who presented hypercalcemia before developing hypocalcemia after maternal magnesium sulfate thera...