Endocrine Abstracts

Introduction: Reports suggest the karyotype of up to 10% of women with Turner syndrome (TS) includes presence of a Y chromosome. Current guidelines recommend early gonadectomy given the potential risk of gonadoblastoma. However, the evidence basis for this practice is not strong. We aimed to assess pubertal development, clinical features, incidence of gonadoblastoma and long-term outcome including pregnancy in an adult-tertiary care TS clinic.

Methods: A quality improvement study (OUH 8477) was performed to retrospectively review consecutive data of patients (phenotypically female, without ambiguous genitalia) with 45,X, 46,XY mosaic karyotype.

Results: Y chromosome was identified in 12/168 (7.14%) using conventional cytogenetic analysis [median age 38 (range 17-65) years]. The median age of TS diagnosis was 13.5 (range 2-18) years. All had 45, X/46, XY mosaic karyotype with median percentage of XY cells of 43% (range 1%-91%). None of them had spontaneous puberty; median age of puberty induction 14 (12-18) years. Only 3/12 had pre-gonadectomy imaging available that showed bilateral ‘streak’ gonads. All except one (still pending gynaecology review) had bilateral gonadectomy [median age of surgery 15 (2-32) years], with 1/12 (8.33%) detected to have bilateral gonadoblastoma at the age of 20 years, presumed to be non-malignant with no recurrence during follow up. Out of 4 women who attempted pregnancy in-vitro-fertilization with donor eggs, 3 were successful including one twin pregnancy. During follow up, seven had bone density assessment, 2 women had osteoporosis (age of onset 41 years and 60 years) and one had osteopenia (age 28 years).

Conclusions: Prevalence of 45, X/46, XY karyotype in women with TS was similar to published studies. Non-functional gonads were universal requiring pubertal induction. Early bilateral gonadectomy was noted with low prevalence of gonadoblatoma.