相关实验视频
Updated: Sep 14, 2025

06:08
A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
23.6K
非经典的先天性上腺增生症:关于临床影响,诊断和治疗的最新见解
Paola Loli1, Sara Menotti2, Luigi di Filippo2
1Institute of Endocrine and Metabolic Sciences, San Raffaele Vita-Salute University and IRCCS San Raffaele Hospital, Milan, Italy. loli.paola@hsr.it.
Endocrine
|July 23, 2025
概括
非古典性先天性上腺增生症 (NCCAH) 是21-基酶缺乏症的较温和形式. 这种情况往往在女性中模仿PCOS,在男性中经常无症状,强调需要更好的诊断和治疗策略.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 生殖健康 生殖健康
背景情况:
- 非经典先天性上腺增生症 (NCCAH) 是21-基酶缺乏症的较温和变体,其特征是皮质醇生物合成受损和上腺激素过多.
- 与经典形式不同,NCCAH在晚年出现,在女性中经常被误诊为多囊卵巢综合征 (PCOS),在男性中保持无症状.
研究的目的:
- 审查目前对非经典先天性上腺增生症 (NCCAH) 的理解.
- 探索性别差异,诊断挑战,遗传因素,临床表现,代谢风险,生育影响和NCCAH的治疗选择.
主要方法:
- 在2024年10月在MEDLINE (PubMed) 进行了全面的文献搜索.
- 关键词包括"非经典先天性上腺增生症"与与性别差异,诊断,遗传学,临床表现,代谢风险,生育能力和治疗相关的术语相结合.
主要成果:
- 在民族上,NCCAH的患病率有所不同. 女性出现雄激素过量的症状 (,,不规则的月经),经常被误诊为PCOS. 男性通常无症状,通过家庭查或生育评估来诊断.
- 建议使用胰岛素抵抗和心血管问题等代谢风险,但这些风险是相互矛盾的. 骨矿物质密度正常或增加. 治疗重点是使用葡萄糖皮质激素,抗雄激素或口服避孕药缓解症状,由于副作用,喜欢使用葡萄糖皮质激素的替代品.
- 由于雌激素过量和排卵问题,女性的生育能力是可变的. 男性的生育能力通常不会显著受损. 丸上腺休息瘤 (TARTs) 可能发生在男性身上.
结论:
- 对于NCCAH的诊断不足,了解不足,特别是在男性中.
- 进一步的研究对于标准化诊断标准,长期代谢风险评估和NCCAH优化治疗策略至关重要.
相关概念视频
Adrenal Gland Disorders
1.9K
Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
1.9K
Attention-Deficit/Hyperactivity Disorder
294
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....
294
Smooth Endoplasmic Reticulum
6.2K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.2K
Hormones of the Adrenal Glands
2.9K
Adrenal hormones play a pivotal role in maintaining the body's electrolyte balance and orchestrating responses to stress, showcasing the intricate functions of the adrenal cortex and medulla.
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
2.9K
COPD: Pathogenesis and Clinical Features
529
Chronic obstructive pulmonary disease (COPD) is a group of lung conditions that progressively worsen over time, including chronic bronchitis and emphysema. This cluster of diseases collectively leads to a gradual and irreversible decline in lung function over time.
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
529
Chronic Pancreatitis II: Collaborative Care
128
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
128

