title: Long-term outcome and adjustment among patients with DSD born with testicular differentiation and masculinized external genital genitalia.
abstract: This report of long-term outcome and quality of life among 6 patients with DSD born with varying amounts of both testicular differentiation and masculinization of external genitalia, with 46,XY karyotypes among 4, attempts to assess numerous aspects. Assessment of 5 patients who were assigned female at birth and a sixth whose maleness was never questioned. Findings from the neonatal period are reported, focusing upon initial diagnosis, gender assignment, parental involvement, surgical and medical care, gender behaviors, psychological counseling and support, mental health and school experiences through adolescent years. Family, social, work, and physical, sexual and mental health status during adult life forms a basis for quality of life. Outcome vary from poor to good; influenced by parents' ability and commitment to support, the patients' personality and ability to accept their condition, quality of medical and surgical care, and family and friend support. Each of these factors could be improved by newer surgical techniques and more skilled psychological support. A basic underlying principal is the fact that in such complex cases, all factors cannot become ideal, especially those related to fertility potential and sexual responsiveness, while with support of family and loved ones, quality of life can be satisfying and productive.
authors.affiliation: Department of Pediatrics, Penn State College of Medicine, The Milton S. Hershey Medical Center Hershey, PA 17033, USA. plee@psu.edu
authors.forename: Peter A
authors.initials: PA
authors.lastname: Lee
authors.forename: Christopher P
authors.initials: CP
authors.lastname: Houk
mesh_terms: D058490:Disorder of Sex Development, 46,XY / Q000235:genetics / Q000523:psychology / Q000628:therapy; D012734:Disorders of Sex Development / Q000235:genetics / Q000523:psychology / Q000628:therapy; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D005783:Gender Identity; D005835:Genitalia / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D010290:Parents; D011379:Prognosis; D011788:Quality of Life; D012725:Sexual Behavior; D013737:Testis; D016896:Treatment Outcome