The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center

ConclusionsThe 45,X/46,XY phenotype varies widely and a high index of suspicion is important to ensure early diagnosis. Cardiac and renal malformations should be screened ultrasonically at diagnosis and thyroid status should be monitored annually. Growth hormone effectively improves adult height in short girls. Prophylactic gonadectomy is indicated for those with intra-abdominal streaks or dysgenetic gonads to prevent the development of a malignancy.
Source: Journal of the Formosan Medical Association - Category: General Medicine Source Type: research