成年男性腺性白细胞衰竭的阴性腺症
Jonanlis Ramirez Alcantara1, Natalie R Grant2, Takara Stanley3
1Department of Pediatric Endocrinology, Nicklaus Children's Hospital, Miami, FL, United States; Department of Pediatric Endocrinology, Massachusetts General Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States.
Annales d'endocrinologie
|October 17, 2025
概括
患有X链 adrenoleukodystrophy (ALD) 的成年男性面临中央和补偿原发性阴性腺体缺陷症的风险. 丸功能在青少年和婴儿中保持正常,这表明功能障碍在ALD进展的晚期发展.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 与X结合的上腺核衰竭 (ALD) 是一种影响上腺,神经系统和丸的遗传性疾病.
- 低阴腺症是已知的ALD并发症,但其患病率和特征需要进一步调查.
研究的目的:
- 鉴定X链 adrenoleukodystrophy (ALD) 的男性阴性腺体的患病率和性质.
- 调查ALD患者的神经功能障碍和阴性腺功能障碍之间的潜在联系.
主要方法:
- 回顾性图表审查和前性研究94名患有ALD的男性 (56名成年人,32名青少年,6名婴儿).
- 血清淋巴激素和丸激素水平被用于诊断成年人的阴道淋巴症.
- 调查收集了包括勃起功能障碍在内的症状数据.
主要成果:
- 在被追溯研究的成年男性中,有13%患有中央性阴性腺缺陷症.
- 亚临床补偿的初级丸功能障碍在10% (追溯) 和64% (前) 的正常丸水平的成年人中被观察到.
- 勃起功能障碍影响了51%的正常丸激素的成年人,这表明神经学的基础.
结论:
- 患有ALD的成年男性有很大的风险发展中央和补偿的原发性性性质下症.
- 丸功能障碍似乎在晚年随着疾病的进展而发展.
- 需要进行进一步的前性研究,以充分了解ALD中的垂体 - 淋巴腺功能障碍.
相关概念视频
Adrenal Gland Disorders
2.9K
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...
2.9K
Sex-linked Disorders
108.2K
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.
108.2K
Alzheimer's Disease: Overview
1.6K
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
1.6K
Disorders of the Male Reproductive System
4.0K
Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
4.0K
Infertility in Males
522
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
522


