| Autor: |
Yen-Chun Huang, Cheng-Ting Lee, Mu-Zon Wu, Shih-Yao Liu, Yi-Ching Tung, Hong-Nerng Ho, Wen-Yu Tsai |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Journal of the Formosan Medical Association, Vol 118, Iss 1, Pp 450-456 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
0929-6646 |
| DOI: |
10.1016/j.jfma.2018.07.003 |
| Popis: |
Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016. The diagnosis of 45,X/46,XY mosaicism was made by karyotyping peripheral blood lymphocytes. All medical records were thoroughly reviewed. Results: Of the 19 patients, 16 were reared as females and 3 as males. The age at diagnosis ranged from 1 month to 15 years and 9 months. Atypical genitalia, short stature, and Turner stigmata were common manifestations. No patient exhibited a cardiac malformation but 29% had renal malformations and 12.5% had autoimmune thyroid disease who developed thyroid dysfunction later. Nine girls with short stature received growth hormone therapy and their height standard deviation score rose from −3.4 ± 1.1 to −1.4 ± 0.9 in adulthood (P |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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