普拉德-威利综合征中早产期:风险因素和后果
Emily Griffing1, Kelsee Halpin1,2, Brian R Lee2
1Division of Pediatric Endocrinology and Diabetes, Children's Mercy Kansas City, Kansas City, Missouri, USA.
Clinical endocrinology
|June 27, 2024
概括
在患有普拉德-威利综合征 (PWS) 的儿童中,早发性青春期 (PP) 是常见的,但不会影响最终的身高. 肥胖和胰岛素耐药性与PWS中的PP无关,与其他儿童不同.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 普拉德-威利综合征 (PWS) 是一种复杂的遗传疾病,与各种内分泌异常有关.
- 过早的青春期 (PP),青春期的早期发作,在一些患有PWS的儿童中观察到.
- 了解PP在PWS中的频率,前体和后果对于患者管理至关重要.
研究的目的:
- 为了确定患有普拉德-威利综合征 (PWS) 的儿童中过早性青春期 (PP) 的发生率.
- 调查潜在的诱导因素和与PWS中PP相关的临床后果.
- 为了比较PWS患者的结果与PP与那些正常 pubarche (NP).
主要方法:
- 对1990年至2021年期间接受PWS治疗的儿童进行了回顾性图表审查.
- 过早的青春期被定义为坦纳第2阶段阴毛发育的特定年龄标准.
- 人口统计,人体测量和实验室数据被收集和分析.
主要成果:
- 在43名患有PWS的儿童中,53.5%的儿童表现出PP,平均年龄为7.0岁,而NP组为10.0岁.
- 在青春期开始时,PP与生长激素发射,BMI z-score或胰岛素耐药性 (HOMA-IR) 没有相关性.
- 患有PP的儿童具有较低的高密度脂蛋白 (HDL) 水平,BMI z分数和青春期进步之间存在温和的相关性.
结论:
- 过早的青春期是普拉德-威利综合征的常见发现,似乎不会对最终身高产生负面影响.
- 与一般肥胖人口不同的是,肥胖和胰岛素耐药性没有被发现与PWS儿童的过早性青春期有关.
更多相关视频
相关概念视频
02:30Genomic Imprinting and Inheritance
34.3K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
34.3K
01:30Attention-Deficit/Hyperactivity Disorder
54
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
54
01:33Pleiotropy
40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K
01:10Nature and Nurture
20.4K
Many human characteristics, like height, are shaped by both nature—in other words, by our genes—and by nurture, or our environment. For example, chronic stress during childhood inhibits the production of growth hormones and consequently reduces bone growth and height. Scientists estimate that 70-90% of variation in height is due to genetic differences among individuals, and 10-30% of variation in height is due to differences in the environments that individuals experience,...
20.4K
01:20Inborn Errors of Metabolism
153
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
153
01:35Pedigree Analysis
84.2K
Overview
84.2K