46,XY DSD with Female or Ambiguous External Genitalia at Birth due to Androgen Insensitivity Syndrome, 5α-Reductase-2 Deficiency, or 17β-Hydroxysteroid Dehydrogenase Deficiency: A Review of Quality of Life Outcomes

Disorders of sex development refer to a collection of congenital conditions in which atypical development of chromosomal, gonadal, or anatomic sex occurs. Studies of 46,XY DSD have focused largely on gender identity, gender role, and sexual orientation. Few studies have focused on other domains, such as physical and mental health, that may contribute to a person's quality of life. The current review focuses on information published since 1955 pertaining to psychological well-being, cognition, general health, fertility, and sexual function in people affected by androgen insensitivity syndromes, 5-α reductase-2 deficiency, or 17β-hydroxysteroid dehydrogenase-3 deficiency—reared male or female. The complete form of androgen insensitivity syndrome has been the focus of the largest number of investigations in domains other than gender. Despite this, all of the conditions included in the current review are under-studied. Realms identified for further study include psychological well-being, cognitive abilities, general health, fertility, and sexual function. Such investigations would not only improve the quality of life for those affected by DSD but may also provide information for improving physical and mental health in the general population

Mission Impossible? Putting the Patient Back in Patient Care

The primary focus of this teaching case is the patient journey, as facilitated and influenced by an e-system or electronic health record (EHR) system. The goal of this case is to provide the learner with the knowledge and skills needed to effectively incorporate patient-centered e-health (PCEH) principles into existing and planned e-health systems such as EHRs. This case can be used to help students understand a hospital experience from the perspective of a patient and her family. It is loosely based on an experience one of the authors had with an actual patient. This case is intended for use with upper level undergraduate and graduate health informatics, information systems, and nursing students. Students assigned to this case should have a working knowledge of clinical terms and the general workings of a hospital. This teaching case is best suited to an advanced course in a health informatics curriculum. Possible applications of the case include, but are not limited to, describing the patient journey, modeling the process flow, diagramming the data flow, and applying the principles of patient-centered e-health