46,XX karyotype中的前列腺发育和verumontanum:一个胚胎学悖论重新定义丸DSD的诊断算法
Rifqi Yanda Muhammad1, Joko Pitoyo2
1Department Urology, Hasan Sadikin Academic Medical Center, Universitas Padjajaran Bandung, Indonesia.
Urology case reports
|January 23, 2026
概括
46,XX 性发育障碍 (DSD) 中严重的男性化可能具有挑战性. 诊断性尿路透镜检测出前列腺组织,证实了46,XX丸DSD,并指导了适当的管理.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 是一个遗传学.
- 儿科手术 儿科手术
背景情况:
- 46,XX 性发育障碍 (DSD) 与严重的男性化存在诊断挑战.
- 现型-型不一致是常见的,使准确的诊断和管理变得复杂.
- 标准诊断协议可能无法解决复杂的DSD病例.
研究的目的:
- 报告一个46,XX DSD病例,其中替代诊断解决了显著的表型-型异常.
- 突出诊断尿道镜在复杂的DSD评估中的实用性.
- 为了证明精确的解剖学发现如何改变患者管理.
主要方法:
- 评估一个2岁的46,XX karyotype和penoscrotal hypospadias的2岁儿童.
- 诊断性尿路透镜可视化内部解剖学.
- 鉴定组织的组织病理学检查.
主要成果:
- 诊断性尿路透镜显示出确定的前列腺组织和一个verumontanum.
- 这些发现表明了Wolffian分化,与先天性上腺增生不一致 (CAH).
- 诊断被修订为46,XX 丸 DSD.
结论:
- 诊断性尿路透镜对于解决46,XX DSD的诊断差异至关重要.
- 前列腺的鉴定证实了46,XX丸DSD,将管理从淋巴切除术转移到下修复.
- 这一案例强调了在DSD管理中详细解剖评估的重要性.
相关概念视频
Karyotyping
68.2K
Overview
68.2K
Chemical Equilibria: Redefining Equilibrium Constant
1.1K
The effect of an inert salt on the solubility of a sparingly soluble salt is known as the salt effect. The degree of the salt effect varies with the ionic strength of the solution, which in turn depends on the activity of the species in the solution. The activity is expressed as the product of concentration and the activity coefficient of the species.
To calculate the equilibrium constants of solutions of moderately high ionic strength, one must account for the salt effect. This redefined...
To calculate the equilibrium constants of solutions of moderately high ionic strength, one must account for the salt effect. This redefined...
1.1K
Trial and Error and Algorithm
403
A problem-solving strategy is a plan of action used to find a solution. Different strategies have distinct action plans. Trial and error involves trying different solutions until one works. For instance, to fix a broken printer, you might check ink levels, ensure the paper tray isn't jammed, and verify the printer's connection to your laptop. This method can be time-consuming but is commonly used. Thomas Edison, for example, used trial and error to find a suitable filament for the light...
403
Mechanistic Models: Compartment Models in Algorithms for Numerical Problem Solving
302
Mechanistic models play a crucial role in algorithms for numerical problem-solving, particularly in nonlinear mixed effects modeling (NMEM). These models aim to minimize specific objective functions by evaluating various parameter estimates, leading to the development of systematic algorithms. In some cases, linearization techniques approximate the model using linear equations.
In individual population analyses, different algorithms are employed, such as Cauchy's method, which uses a...
In individual population analyses, different algorithms are employed, such as Cauchy's method, which uses a...
302
Appendicitis-II: Diagnostic Studies and Management
541
Diagnosing and managing appendicitis requires a structured and comprehensive approach that spans from initial assessment to postoperative care. Here is an overview of the process:
Diagnosing Appendicitis
It requires a multifaceted approach, starting with a detailed physical examination to pinpoint the location and nature of the pain and identify any associated symptoms. Laboratory tests play a crucial role. A complete Blood Count (CBC) typically reveals leukocytosis (an increased number of...
Diagnosing Appendicitis
It requires a multifaceted approach, starting with a detailed physical examination to pinpoint the location and nature of the pain and identify any associated symptoms. Laboratory tests play a crucial role. A complete Blood Count (CBC) typically reveals leukocytosis (an increased number of...
541
Asthma-IV: Diagnostic and Management
3.1K
The diagnosis and management of asthma are comprehensive, encompassing clinical assessments, lung function tests, and pharmacological interventions. Here's an overview:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
Clinical Assessment for Asthma:
This is the first step in diagnosing and managing asthma. It includes:
3.1K

![An Automated Radiosynthesis of [68Ga]Ga-FAPI-46 for Routine Clinical Use](/_next/image?url=https%3A%2F%2Fcloudfront.jove.com%2FCDNSource%2Fteasers%2F66708.jpg&w=3840&q=50)
