BACKGROUND/AIMS Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families. METHODS Content f...

It is clear that the major issues raised by the Chicago Disorders of Sex Development (DSD) Consensus meeting primarily the need of more data, especially outcome information, are still not available. Hence, there are insufficient data to merit another consensus statement. However, there has been a major shift in the thinking and approach to the care of patients with DSD. This was a consequence o...

BACKGROUND 46,XY disorders of sex development (46,XY DSD) are genetically heterogeneous conditions. Recently, a few submicroscopic genomic rearrangements have been reported as novel genetic causes of 46,XY DSD. METHODOLOGY/PRINCIPAL FINDINGS To clarify the role of cryptic rearrangements in the development of 46,XY DSD, we performed array-based comparative genomic hybridization analysis for 24...

BACKGROUND Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or a...

Chromobox homolog 2 (CBX2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development [DSD]), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed large-scale mapping and analysis of in vivo target loci of the protein CBX2 in Sertoli-like NT-2D1 cells, using the DNA adenine methyltransfe...

Detrusor sphincter dyssynergia (DSD) is the urodynamic description of bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. DSD is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, ...

In the treatment of patients with disorders of sex development (DSD), multidisciplinary teams (MDTs) represent a new standard of care. While DSDs are too complex for care to be delivered effectively without specialized team management, these conditions are often considered to be too rare for their medical management to be a hospital priority. Many specialists involved in DSD care want to create...

Configuring and deploying a large software system is complicated when the system is composed of components and when there are numerous possible configurations for the system. In such a scenario, it is difficult for end-users to specify and install an appropriate configuration for their specific environment. Defining all valid configurations of a software system is challenging, and can be addres...

Variables that impact gender development in humans are difficult to evaluate. This difficulty exists because it is not usually possible to tease apart biological influences on gender from social variables. People with disorders of sex development, or DSD, provide important opportunities to study gender within individuals for whom biologic components of sex can be discordant with social componen...

BACKGROUND Dementia is a growing public health problem and a well-described risk factor for delirium. Yet little is known about delirium superimposed on dementia in community-dwelling populations. The purpose of this study was to examine the 3-year occurrence, healthcare utilization, and costs associated with delirium superimposed on dementia in community-dwelling persons. METHODS We used a 3...