[Mosaic Turner syndrome with a 45, X/46, XX/47, XXX karyotype presenting with recurrent fractures: a case report and literature review].

A case of a patient with Turner syndrome (TS) with a karyotype of 45, X/46, XX/47, XXX who was admitted to the Department of Endocrinology at Peking Union Medical College Hospital in March 2025 were reported. The patient presented with primary amenorrhea and recurrent fractures. Dual-energy X-ray absorptiometry revealed osteoporosis, and spinal X-rays showed multiple vertebral wedge-shaped deformities. Screening for other secondary causes of osteoporosis revealed no significant abnormalities. Based on these results, together with the patient's sex hormone levels indicating hypergonadotropic hypogonadism and a peripheral blood karyotype of 45, X/46, XX/47, XXX, the patient was diagnosed with mosaic TS complicated by osteoporosis. The patient was treated with denosumab 60 mg subcutaneously once every 6 months, in combination with calcium carbonate/vitamin D3 600 mg orally once daily and vitamin D3 2 000 U orally once daily. No new fractures occurred through 9 months of follow-up. A literature review revealed that 26 cases of 45, X/46, XX/47, XXX mosaic TS with complete clinical data have been reported worldwide to date. The median age at diagnosis was 20.50 (range, 7.38-32.75) years. Patients diagnosed under 18 years of age predominantly presented with short stature; patients of reproductive age may present with infertility, with some achieved a successful pregnancy through assisted reproductive technology; and patients over 40 years of age often presented with other systemic diseases, such as hearing impairment, psychiatric disorders, epilepsy, ovarian stromal cell tumors, multiple myeloma, and sideroblastic anemia.