XO/XY MOSAICISM IN AN 18-YEAR-OLD GIRL WITH PRIMARY AMENORRHEA

Abstract

INTRODUCTION
45XO/46XY mosaicism is rare and may present with a wide spectrum of phenotypes which may go unrecognized. Y chromosome material has been shown to increase the risk for gonadal malignancy with gonadoblastoma being the most common germ cell tumour. Prophylactic gonadectomy has been recommended in all female individuals with Y chromosome material identified on standard karyotyping although it is debatable whether this may represent overtreatment.

CASE
We report an 18-year-old girl who was referred to endocrine clinic for primary amenorrhea. She is 145 cm tall with a mid-parental height of 152 cm. Breast development was Tanner 3 and pubic hair was Tanner 2. There were no obvious physical features of Turner syndrome, clitoromegaly or palpable gonads.

CONCLUSION
There are no guidelines on identifying the malignancy risk or timing of gonadectomy in patients with XY gonadal dysgenesis. This case illustrates the challenges in surveillance for these patients. A careful review of the physical features, hormonal evaluation, karyotype and malignancy risk should be undertaken and the findings discussed with the patient and family