相关实验视频
Updated: Jun 15, 2025

08:20
A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
11.2K
46,XX男性患有先天性上腺增生症:临床和生化描述
Bas P H Adriaansen1,2, Agustini Utari3,4, Dineke Westra5
1Department of Pediatrics, Division of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
Frontiers in endocrinology
|August 23, 2024
概括
未经治疗的46,XX先天性上腺增生症 (CAH) 患者作为男性抚养,尽管皮质醇低,但男性雄激素水平正常. 由于雄激素产量减少,拒绝使用葡萄糖皮质激素治疗,需要个性化护理.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 由于21-酶缺乏 (21OHD) 或11-酶缺乏 (11OHD) 的先天性上腺增生症 (CAH) 会导致皮质醇缺乏和雄激素过量.
- 这可能导致46,XX个体的男性化,往往导致诊断延迟和男性分配,特别是在发展中国家.
研究的目的:
- 在印度尼西亚,对未经治疗的男性养殖46,XX经典CAH患者的临床和生化特征.
- 讨论与管理这种独特患者队列相关的挑战.
主要方法:
- 包括9名未经治疗的经典CAH患者 (46,XX基因型;6名21OHD,3名11OHD) 年龄为3-46岁.
- 评估生物识别数据,临床特征和生物化学标志物,包括皮质醇,,雄激素和 pituitary-gonadal轴.
主要成果:
- 患者表现出较低的早晨皮质醇水平 (中位数为89nmol/L),没有显著的ACTH刺激的增加.
- 尽管皮质醇水平较低,但大多数患者缺乏严重的疾病;成年患者保持正常的男性丸激素水平.
- 在21OHD患者中观察到血胆氨酸升高,在11OHD患者中观察到低正常. 在21OHD患者中,11-氧化构成了总的很大一部分.
结论:
- 这项研究突出了一个独特的队列,不接受治疗的46,XX CAH患者被养成为男性,没有明显的皮质醇缺乏症症状.
- 成年患者保持男性范围的雄激素水平,该水平将通过葡萄糖皮质激素治疗降低.
- 个性化治疗策略和全面的咨询对于管理46,XX CAH患者至关重要,这些患者在出生时被分配为男性.
相关概念视频
Adrenal Gland Disorders
1.4K
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...
1.4K
Sex-linked Disorders
101.8K
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.
101.8K
Hormones of the Adrenal Glands
2.3K
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...
2.3K
Smooth Endoplasmic Reticulum
5.7K
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...
5.7K
Pedigree Analysis
84.1K
Overview
84.1K
The Y Chromosome Determines Maleness
6.5K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.5K

