Abstract

Swyer syndrome (46 XY pure gonadal disgenesis) is a rare endocrine disorder which presents with primary amenorrhea and poor development of secondary sexual characteristics, normal female external genitalia, normal Müllerian structures and streak gonads.

In this case report, a 21 year old patient was admitted with the complaint of primary amenorrhea. Poorly developed secondary sexual characteristics and normal female external genitalia were detected during physical examination. FSH and LH levels were increased, estradiol levels were decreased. Transabdominal pelvic ultrasonography revealed, decreased uterine and left ovarian size, and right ovary was not observed. Swyer syndrome was diagnosed according to clinical findings and karyotype analysis that was reported to be 46 XY. Bilateral gonadectomy and hormonal replacement treatment was recommended however the patient refused the treatment. The patient applied for operation after 6 years, and underwent laparoscopic bilateral gonadectomy, incidentally disgerminoma was detected in left gonad. Adjuvant 3 cycles of chemotherapy including Bleomycin,Etoposide,Cisplatin was administered In genetic investigation of the patient who does not have a family history of cancer, BRCA2 gene mutation was detected and genetic counseling was given. The patient is out-of-disease after 42 months of operation.

This report on Swyer syndrome described an older case who refused gonadectomy and progressed into disgerminoma. In addition to SRY gene mutation Swyer syndrome may be associated with BRCA 2 mutation.