Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of gonadoblastoma. We experienced a short statured 45,X Turner girl with normal external genitalia. Because SRY gene was positive, laparascopic gonadectomy was performed. The dysgenetic gonads revealed bilateral gonadectomy tissues. The authors report a pure gonadal dysgenesis with partial testicular development associated with Turner syndrome with SRY gene. Screening for SRY gene should be done even though Turner patient have the 45, X monosomy and no evidence of virilization.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology