Abstract
Turner syndrome (TS) is a difference in sex development (DSD) affecting 25-50 per 100,000 females with many cardiac, endocrine, neurocognitive, genitourinary, and reproductive implications.1 There is a spectrum of TS depending on degree of chromosomal mosaicism, with particular interest given to those with Y chromosome material present (∼5.5% of TS), which may increase the risk of gonadal malignancy.2 In particular, the expression of testis-specific protein-Y gene is implicated in development of gonadoblastoma (Gb), a premalignant condition found in some patients with DSD.
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