Novel associations in disorders of sex development: findings from the I-DSD registry

Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report the range of associated conditions identified in the international DSD (I-DSD) Registry.<p></p> Design, Setting, and Patients: Anonymized data were extracted from the I-DSD Registry for diagnosis, karyotype, sex of rearing, genetic investigations, and associated anomalies. If necessary, clarification was sought from the reporting clinician.<p></p> Results: Of 649 accessible cases, associated conditions occurred in 168 (26%); 103 (61%) cases had one condition, 31 (18%) had two conditions, 20 (12%) had three conditions, and 14 (8%) had four or more conditions. Karyotypes with most frequently reported associations included 45,X with 6 of 8 affected cases (75%), 45,X/46,XY with 19 of 42 cases (45%), 46,XY with 112 of 460 cases (24%), and 46,XX with 27 of 121 cases (22%). In the 112 cases of 46,XY DSD, the commonest conditions included small for gestational age in 26 (23%), cardiac anomalies in 22 (20%), and central nervous system disorders in 22 (20%), whereas in the 27 cases of 46,XX DSD, skeletal and renal anomalies were commonest at 12 (44%) and 8 (30%), respectively. Of 170 cases of suspected androgen insensitivity syndrome, 19 (11%) had reported anomalies and 9 of these had confirmed androgen receptor mutations.<p></p> Conclusions: Over a quarter of the cases in the I-DSD Registry have an additional condition. These associations can direct investigators toward novel genetic etiology and also highlight the need for more holistic care of the affected person.<p></p&gt

The distance selling directive: consumer champion or complete irrelevance?

This paper investigates the origins, significant content, UK and EU implementation and outcomes of Directive 97/7/EC on distance selling, hereafter referred to as the Distance Selling Directive (DSD). The DSD has been implemented in national legislation by all EU Member States. In the UK this legislation was the Consumer Protection (Distance Selling) Regulations 2000 (SI 2000 No. 2334), hereafter referred to as the CPDSR

How often are clinicians performing genital exams in children with disorders of sex development?

Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic. Methods: Medical records of children with DSD and AG seen at one large academic center since 2007 were reviewed. Data analyzed included diagnosis, sex of rearing, age, initial or follow up visit, number of individuals present and sex of the pediatric endocrinologist. Repeated measures analysis was performed to evaluate associations between GEs and patient/physician factors. Results: Eighty-two children with DSD and AG who had a total of 632 visits were identified. Sex of rearing was female in 78% and the most common diagnosis was congenital adrenal hyperplasia (CAH) (68%). GEs were performed in 35.6% of visits. GEs were more likely in patients with male sex of rearing (odds ratio [OR] 17.81, p=0.006), during initial vs. follow-up visits (OR 5.99, p=0.012), and when the examining endocrinologist was female (OR 3.71, p=0.014). As patients aged, GEs were less likely (OR 0.76, p<0.0001). Conclusions: GEs were performed in approximately one-third of clinic visits in children with DSD and AG. Male sex of rearing, initial visits and female pediatric endocrinologist were associated with more frequent GEs

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

Objective: Disorders in sex development (DSD) can be treated well medically, but families will encounter many psychosocial challenges. Promoting counselling to facilitate acceptance and coping is important yet equality of access is unknown. This study investigated the modalities of psychosocial care provided in centres of DSD care. Methods: An international survey conducted among 93 providers of psychosocial care, identified through clinical networks, registries and professional forums. Results: Forty-six respondents from 22 different countries filled out the survey (49%). Most respondents (78%) were based in hospital-based expert teams. Referrals came from paediatric endocrinologists (76%), gynaecologists (39%) and paediatric urologists (37%). Psychological counselling was most frequently given to parents (74%), followed by children (39%), adolescents (37%) and adults (11%) and was most frequently focused on coping and acceptance of DSD (54%), education (52%), the atypical body (39%) and genital (41%), decisions on genital surgery (33%), complications with sexual intercourse (29%), disclosure (28%) and acceptance of infertility (11%). Respondents most frequently observed DSD related confusion about gender (54%), acceptance of cross gender behaviour (50%), anxiety (43%) and sadness and depression (38%). Conclusions: Most psychosocial care is provided to parents. It is assumed that parental support is important as acceptance is conditional to become affectionate caretakers. Although it may be more difficult for youngsters to communicate about their condition and treatment, providing opportunity to bring up issues that are important for them, is imperative. Clinicians and parents should be aware that parental and patients’ interests may not correspond completely. Psychosocial management should also include transition and adult care

SHADOW PRICE IMPLICATIONS OF SEVERAL STOCHASTIC DOMINANCE CRITERIA

Stochastic dominance criteria can be, but seldom are explicitly, applied to problems having continuous variables. A previously developed model is modified to facilitate exploration of sets of shadow price vectors for decreasing (non-increasing) absolute risk aversion stochastic dominance (DSD), a combination, TGSD, of third degree stochastic dominance (TSD) and generalized stochastic dominance (GSD) and a combination, DGSD, of DSD and GSD. The model is illustrated by applying it to two risk efficient (primal) solutions of a problem by Anderson, Dillon and Hardaker. For each of the two primal solutions and, where relevant, three risk aversion coefficient intervals, selected aspects of the sets of shadow price vectors consistent with TSD, DSD, TGSD and DGSD are compared with each other and with sets of shadow price vectors consistent with GSD and second degree stochastic dominance (SSD).Demand and Price Analysis,

Geostatistical simulation of two-dimensional fields of raindrop size distributions at the meso-¿ scale

The large variability of the raindrop size distribution (DSD) in space and time must be taken into account to improve remote sensing of precipitation. The ability to simulate a large number of 2-D fields of DSDs sharing the same statistical properties provides a very useful simulation framework that nicely complements experimental approaches based on DSD ground measurements. These simulations can be used to investigate radar beam propagation through rain and to evaluate different radar retrieval techniques. The proposed approach uses geostatistical methods to provide structural analysis and stochastic simulation of DSD fields. First, the DSD is assumed to follow a Gamma distribution with three parameters. As a consequence, 2-D fields of DSDs can be described as a multivariate random function. The parameters are normalized using a Gaussian anamorphosis and simulated by taking advantage of fast Gaussian simulation algorithms. Variograms are used to characterize the spatial structure of the DSD fields. The generated fields have identical spatial structure and are consistent with the observations. Because intermittency cannot be simulated using this technique, the size of the simulation domain is limited to the meso-¿ scale (2-20 km). To assess the proposed approach, the method is applied to data collected during intense Mediterranean rainfall. Taylor's hypothesis is invoked to convert time series into 1-D range profiles. The anisotropy of the fields is derived from radar measurements. Simulated and measured reflectivity fields are in good agreement with respect to the mean, the standard deviation, and the spatial structure, demonstrating the promising potential of the proposed stochastic model of DSD field