Endocrine Abstracts

Introduction

Turner syndrome (TS) is one of the most common types of aneuploidy; its etiology is associated with total or partial X-chromosome monosomy. In 5–12% of patients, mosaicism for a cell line with Y chromosome is identified. The presence of Y-chromosome increases the risk of gonadal tumors, especially gonadoblastoma and subsequent dysgerminoma. Here we report on the case of a girl with a rare 45X0/46XY mosaic TS exhibiting a primary amenorrhea and delayed puberty; she received preventive surgical treatment by resection of the ovarian strips under laparoscopy and hormonal supplementation.

Case report

The patient was diagnosed with TS at the age of 16 years, upon a diagnostic work-up for a primary amenorrhea, a delayed puberty and short stature without dysmorphic syndrome. Chromosome analysis revealed a mosaic karyotype (45X0/46XY). A physical examination revealed a Tanner stage I for breast and Tanner stage II for pubic hair development. Psychological evaluation showed normal global developmental with highschooler level, together with emotional and social maturity. Her bone age was 13 years. Pelvic magnetic resonance imaging and ultrasound demonstrated a small uterus with unseen ovaries. A laparoscopic exploration was performed which revealed a hypoplastic uterus with normal tubes with ovarian strips; preventive resection of the strips was performed with histology related to bilateral gonadal dysgenesis. In addition, a substitute hormonal treatment based on estrogen and progesterone was instituted to improve pubertal development.

Conclusion

Turner syndrome and Y chromosome material mosaicism is associated with an increased risk of gonadal tumors, prophylactic gonadectomy is recommended at the time of diagnosis.

Keywords

Turner syndrome, Y-chromosome, gonadoblastoma, preventive gonadectomy.