The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome [0.03%]
青年期起病的糖尿病5型(MODY 5)和17q12微缺失综合征患者中首例高渗性 diabetic ketoacidosis 病例报道
Jun Lee,Minji Kim,Sukdong Yoo et al.
Jun Lee et al.
Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review [0.03%]
LHCGR活化突变所致家族性男性限性的青春期提前一例报道及文献复习
Jihyun Ha,Yunha Choi,Mo Kyung Jung et al.
Jihyun Ha et al.
Familial male-limited precocious puberty (FMPP) is a rare form of gonadotropin-independent precocious puberty that is caused by an activating mutation of the LHCGR gene. Herein, we report a case of FMPP with a mutation of the LHCGR gene in ...
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene [0.03%]
通过CYP21A2基因的分子遗传分析对21-羟化酶缺乏引起的先天性肾上腺皮质增生症进行产前诊断
Ji-Hee Yoon,Soojin Hwang,Ja Hye Kim et al.
Ji-Hee Yoon et al.
Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utilit...
Effectiveness and safety of pamidronate treatment in nonambulatory children with low bone mineral density [0.03%]
pamidronate治疗对低骨矿物密度不能行走的儿童的有效性和安全性研究
Myeongseob Lee,Ahreum Kwon,Kyungchul Song et al.
Myeongseob Lee et al.
Purpose: Nonambulatory pediatric patients may have low bone mineral density (BMD) and increased risk of pathologic fractures. Though bisphosphonate therapy is the mainstream medical intervention in these children, clinica...
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience [0.03%]
使用下一代测序对矮小儿童进行基因评估：一个三级诊疗中心的临床经验
Su Jin Kim,Eunyoung Joo,Jisun Park et al.
Su Jin Kim et al.
Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. ...
Comparison of anthropometric, metabolic, and body compositional abnormalities in Korean children and adolescents born small, appropriate, and large for gestational age: a population-based study from KNHANES V (2010-2011) [0.03%]
韩国出生体重小于、符合和大于相应胎龄儿童和青少年的人体测量、代谢及身体成分异常的比较：KNHANES V(2010-2011)人口研究
Tae Kwan Lee,Yoo Mi Kim,Han Hyuk Lim
Tae Kwan Lee
Purpose: The impacts of growth restriction and programming in the fetal stage on metabolic and bone health in children and adolescents are poorly understood. Moreover, there is insufficient evidence for the relationship b...
Association of maternal insulin resistance with neonatal insulin resistance and body composition/size: a prospective cohort study in a sub-Saharan African population [0.03%]
母体胰岛素抵抗与新生儿胰岛素抵抗和身体组成/大小的关联：来自撒哈拉以南非洲人群的前瞻性队列研究
Ibironke J Akinola,Peter O Ubuane,Adeyemi O Dada et al.
Ibironke J Akinola et al.
Purpose: We prospectively evaluated the association of the insulin resistance of third-trimester Nigerian pregnant women with their newborn infants' insulin resistance and birth size. Pregnancy-associated insulin resistan...
Hanene Lassoued Ferjani,Ines Cherif,Dorra Ben Nessib et al.
Hanene Lassoued Ferjani et al.
Pediatric osteoporosis (PO) is a condition that is currently gaining recognition. Due to the lack of official definitions over the past few decades, the exact incidence of PO is unknown. The research does not provide a specific prevalence o...
An overview of growth hormone therapy in pediatric cases documented in the Kabi International Growth Study (Pfizer International Growth Database) [0.03%]
卡比国际成长研究(辉瑞国际成长数据库)记载的儿科病例中生长激素治疗概览
Mitchell E Geffner,Michael B Ranke,Michael P Wajnrajch;Pfizer International Growth Database Strategic Executive Committee et al.
Mitchell E Geffner et al.
The Kabi International Growth Study (KIGS) was first established in 1987 and is the largest pharmaco-epidemiological study of recombinant human growth hormone (rhGH). KIGS is aimed at evaluating long-term safety and treatment outcomes in pe...