In order to explore the clinical characteristics of children with supergynous syndrome, We retrospectively analyzed the clinical data of 4 patients with supergynous syndrome, including karyotype, height, hormone level and other related data, and their clinical characteristics were discussed in combination with literature review. Two patients with 45, X/47, XXX mosaic type all had different degrees of short stature, and 1 case was complicated with partial growth hormone deficiency; 2 cases of non-chimeric type 47, XXX patients did not appear short stature, and among non-chimeric type patients One case was within the range of the normal population, and the other had a tall stature, and one of them showed symptoms of more typical superfemale syndrome, such as mild mental retardation. The sex hormone levels of Case 1, Case 2, and Case 4 were in line with the age characteristics of the children, and the sex hormone examination of Case 3 was not perfect. None of the 4 patients had abnormal gonadal development through physical examination and imaging studies, and the development of the uterus was in line with the age characteristics of the children. Symptoms of patients with superfemale syndrome are diverse and lack typical features. The clinical symptoms of patients with 45, X mosaicism are similar to those of Turner syndrome.

Li Yilin, Sheng Sihan, Han Xinyi, Zheng Rongxiu. Analysis of Clinical Characteristics of 4 Patients with Super-female Syndrome. International Journal of Frontiers in Medicine (2023), Vol. 5, Issue 9: 48-54. https://doi.org/10.25236/IJFM.2023.050909.

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