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The notification of Turner syndrome (TS) is an important task for clinicians who are treating the condition. To clarify the situation regarding the notification process, we performed a questionnaire survey among 104 clinicians who were involved in the treatment of GH and estrogen for TS in the Kanto and Koshinetsu area of Japan. We distributed a questionnaire concerning both the ideal and actual timings of notifying the name of "Turner", short stature, hypogonadism, fertility, complications, karyotype, as well as asking "Who is the best person to notify the patient?" We received 34 completed questionnaires, 30 pediatricians, two physicians, and two gynecologists, who were treating a total of 352 cases with TS. Although most clinicians understood the gradual notification process, there were difference between the ideal and actual timings of notifying the name of the condition, short stature, hypogonadism/fertility and karyotype. To the question "Who is the best person to notify the patient?", replies were, ideally: the doctor followed by parent(s), and, actually: the parent(s). Only five institutes had medical teams to care for TS. The team consisted of clinicians, nurses, and genetic counselors. Concerning the notification process of TS, it is important for us to tell patients that Turner syndrome is a condition, not a disease, at an appropriate time with a gentle attitude. At the same time, we should realize TS support groups could play an important role in contributing to how to take care of the many problems of TS.

Issues Concerning the Notification of Turner Syndrome: A Questionnaire Study of Clinicians