Introduction: Disorders of sex development (DSD) is a congenital condition in which the development of chromosomal, gonadal or genital sex is atypical. A female appearance patient with secondary amenorrhea and 46 XY karyotype seems to be solid evidences to diagnose Y-chromosome-related DSD diseases, while it is not necessarily the accurate diagnosis. We here report a case of a 16- year-old girl with secondary amenorrhea and 46 XY karyotype after bone marrow transplantation (BMT) and adjuvant chemotherapy misdiagnosed as DSD.
Case report: A 16-year-old lady who gets her first period at age 13, was referred with a 3 years history of secondary amenorrhoea. The patient presented female appearance. She had normal female genitalia and she was at Tanner stage 3. Her medical history included BMT and chemotherapy because of acute leukemia (AL) when she was 13 years old. So far there is no sign of AL recurrence. Laboratory examination showed a 46 XY karyotype, elevated follicle stimulating hormone and luteinizing hormone, low estrogen, and normal prolactin. Perineal and pelvic ultrasound scans showed developed uterus and vagina, and two small ovaries with no follicular activity. Furthermore, we found that she received BMT from her brother and adjuvant chemotherapy 3 years ago. Her karyotype changed from normal female to a karyotype of donor (her brother) origin after BMT. Adjuvant chemotherapy for AL may impair her ovarian function and finally bring about primary ovarian insufficiency.
Conclusion: The present case serves as a reminder that a correct diagnosis depends on the comprehensive collection of present and past medical history, complete physical examination, and careful evaluation of related adjuvant tests.
20 - 23 May 2017
European Society of Endocrinology