Formerly known as 'intersex' conditions, disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal or anatomical sex is atypical. A complete revision of the nomenclature and classification of DSDs has been undertaken, which emphasizes the genetic aetiology of these disorders and discards pejorative terms. Uptake of the new terminology is widespread. DSDs affecting gonadal development are perhaps the least well understood. Unravelling the molecular mechanisms underlying gonadal development has revealed new causes of DSDs, although a specific molecular diagnosis is made in only ∼20% of patients. Conversely, identification of the molecular causes of DSDs has provided insight into the mechanisms of gonadal development. Studies of N-ethyl-N-nitrosourea mutagenesis in the mouse, and multigene diagnostic screening and genome-wide approaches, such as array-comparative genomic hybridization and next-generation sequencing, in patients with DSDs are accelerating the discovery of genes involved in gonadal development and DSDs. Furthermore, long-range gene regulatory mutations and multiple gene mutations are emerging as new causes of DSDs. Patients with DSDs, their parents and medical staff are confronted with challenging decisions regarding gender assignment, genital surgery and lifelong care. These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs.

Past research has revealed that individuals with agenesis of the corpus callosum (ACC) have deficits in interhemispheric transfer, complex novel problem-solving, and the comprehension of paralinguistic aspects of language. Case studies and family reports also suggest problems in social cognition. The performance of 11 individuals with complete ACC and with normal intelligence was compared to that of 13 IQ- and age-matched controls on three measures of social cognition. Individuals with ACC were indistinguishable from controls on the Happe Theory of Mind Stories and the Adult Faux Pas Test, but performed significantly worse on various portions of the Thames Awareness of Social Inference Test (TASIT) involving interpretations of videotaped social vignettes. Further analysis of the TASIT indicated that individuals with ACC showed deficiency in the recognition of emotion, weakness in understanding paradoxical sarcasm, and particular difficulty interpreting textual versus visual social cues. These results suggest that the tendency for deficient social cognition in individuals with ACC stems from a combination of difficulty integrating information from multiple sources, using paralinguistic cues for emotion, and understanding nonliteral speech. Together, these deficits would contribute to a less robust theory of mind.

A stationary, quiescent H-mode (QH-mode) regime with a wide pedestal and improved confinement at low rotation has been discovered on DIII-D with reactor relevant edge parameters and no ELMs. As the injected neutral beam torque is ramped down and the edge E  ×  B rotation shear reduces, the transition from standard QH to the wide pedestal QH-mode occurs. At the transition, the coherent edge harmonic oscillations (EHO) that usually regulate the standard QH edge cease and broadband edge MHD modes appear along with a rapid increase in the pedestal pressure height (by  ⩽60%) and width (by  ⩽50%). We posit that the enhanced edge turbulence-driven transport, enabled by the lower edge E  ×  B flow shear due to lower torque reduces the pedestal gradient and, combined with the high edge instability limit provided by the balanced double-null plasma shape, permits the development of a broader and thus higher pedestal that is turbulence-transport-limited. Even with the significantly enhanced pedestal pressure, the edge operating point is below the peeling ballooning mode stability boundary and thus without ELMs. Improved transport in the outer core region (0.8  ⩽  ρ  ⩽0.9) owing to increased E  ×  B flow shear in that region and the enhanced pedestal boost the overall confinement by up to 45%. These findings advance the physics basis for developing stationary ELM-free high-confinement operation at low rotation for future burning plasma where similar collisionality and rotation levels are expected.