Abstract Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome. We present a pateint that missed treatment opportunity due to delayed diagnosis, with multiple serious complications. Patients and their families are not vigilant enough to early symptoms of growth retardation, delayed puberty and even infertility. We should pay attention to early diagnosis and treatment of rare disease patients.
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Chen et al. (2024) studied this question.
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