This is the first published case study of a transsexual male with a rare orthopedic condition whose transsexualism was directly related to his severe orthopedic disability. In 1976, the patient, a 28-year-old single Caucasian male with a college education, was diagnosed as having progressive pseudorheumatoid arthrotropy of children (a very rare orthopedic disorder which also affected his sister). At this writing, he is 4 feet 9 inches tall and has multiple skeletal deformities, including twisted and gnarled joints; he wears braces on both legs, has had total hip replacements, is barrel chested, and has had many surgical procedures over his lifetime. The patient's presenting problems, his medical and social-psychological history, psychological testing results, and summaries of his 7-year supportive-expressive psychotherapy are presented. The patient endured a painful childhood in which children stared at him and ridiculed him for being a "funny little man." His sister, who had the same condition, was spared this teasing and humiliation. He came to believe that as a girl/woman he would be more socially acceptable (like his sister). Since age 11 he has cross-dressed and entertained hopes of becoming female. Psychological testing suggested that he viewed sexual transformation as leading away from a life of deformity and pain to an imagined state of perfection in which his primary narcissistic injury would be repaired. It is suggested that the patient's "transsexualism" evolved slowly as an adaptation to his profound physical deformity and his perceived status as a crippled and handicapped male.(ABSTRACT TRUNCATED AT 250 WORDS)