相关实验视频
Updated: Sep 13, 2025

09:45
Measuring Cardiac Autonomic Nervous System ANS Activity in Children
Published on: April 29, 2013
21.1K
性发育的差异:来自单一三级儿科内分泌学中心的420名患者的研究
Silvia Ventresca1,2, Laura Chioma3, Rosario Ruta4
1Department of Pediatrics, University Hospital Arcispedale Sant'Anna, University of Ferrara, 44124 Ferrara, Italy.
Children (Basel, Switzerland)
|July 29, 2025
概括
这项关于性别发育差异 (DSD) 的研究发现,下一代测序 (NGS) 显著改善了儿科患者的遗传诊断率. 多学科的方法是管理这些复杂的先天性疾病的关键.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 临床遗传学 临床遗传学
- 先天性疾病:先天性疾病.
背景情况:
- 性发育差异 (DSD) 包括具有异常生殖器发育的先天性疾病.
- 诊断需要复杂的临床,荷尔蒙和遗传评估.
- 管理包括早期识别,治疗和跟进.
研究的目的:
- 详细介绍儿科DSD患者的临床特征,诊断方法和管理策略.
- 强调基因诊断在DDS评估中的作用.
- 报告来自意大利一家三级护理儿科医院的发现.
主要方法:
- 对420名儿科DSD患者 (2016-2023) 的回顾性研究.
- 包括临床,荷尔蒙和遗传数据.
- 应用下一代测序 (NGS) 来识别遗传变异.
主要成果:
- 对型的分析:46,XY (75),46,XX (135) 和染色体马赛克 (210).
- 在AR,NR5A1和SRY基因中发现了三种新型遗传变异.
- NGS实现了84.76%的最终诊断率,显著提高了诊断产量.
结论:
- 有效的DSD管理需要多学科的团队方法.
- 了解已识别的遗传变异的临床意义至关重要.
- 早期识别和全面评估对于患者护理至关重要.
相关概念视频
Signs of Puberty
614
Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...
614
Socioemotional Experience and Gender Development
79
Social-emotional experiences and cultural influences play significant roles in shaping gender development. During middle childhood, from ages 6 to 11, peer groups become dominant in reinforcing gender norms. Children in this age group often align with same-gender peer groups, which actively encourage behaviors that conform to traditional gender roles. For instance, boys may be discouraged from engaging in activities perceived as feminine, reinforcing culturally dictated norms about masculinity...
79
Sex-linked Disorders
103.0K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
103.0K
Psychosexual Theory of Development
667
Sigmund Freud's psychosexual theory of development suggests that early childhood experiences significantly shape personality and behavior. Freud proposed that development is discontinuous, occurring in five distinct stages, each defined by a focus on different erogenous zones. He believed that failure to resolve the conflicts specific to each stage successfully could result in fixation, potentially influencing behavior as adults.
The Five Stages of Psychosexual Development
Freud's psychosexual...
The Five Stages of Psychosexual Development
Freud's psychosexual...
667
Longitudinal Research
12.5K
Sometimes we want to see how people change over time, as in studies of human development and lifespan. When we test the same group of individuals repeatedly over an extended period of time, we are conducting longitudinal research. Longitudinal research is a research design in which data-gathering is administered repeatedly over an extended period of time. For example, we may survey a group of individuals about their dietary habits at age 20, retest them a decade later at age 30, and then again...
12.5K
Development of the Sexual Organs in the Embryo and Fetus
1.5K
Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the...
1.5K

