Endocrine Abstracts

A 27 year old woman was examined in 1977 because of amenorrhea andhirsutism. Hormonal evaluation revealed elevated levels of gonadotrophins simoultaneously with biochemical and clinical hyperandrogenism. Cytogenetic evaluation confirmed presence of male karyotype (46XY) and Swyer syndrome (pure gonadal dysgenesis) was diagnosed. Patient underwent laparotomy, however no gonadal tissue was found during this procedure. A few years later molecular genetic evaluation demonstrated presence of Y sequencies PABY, SRY from the short arm of Y chromosome, DYZ3 sequencies from the centromeric region and sequencies SY85, SY132, SY156, DYZ1 from the long arm of Y chromosome. Patient did not visit endocrinologists for many years. She was treated by psychiatrists because of depression. In her 70-ties (2019) she was admitted to the hospital because ofabdominal pain. Imaging methods and physical examination did not confirman acute abdomen, but MRI demonstrated presence of testicular tissue and crurapenis in the pelvic region. Patient underwent laparoscopic surgery with exstirpation of gonads(testes, epididymis, d. epididymidis) and crura penis. Few months after surgery a marked regression of hirsutism, decrease in serum testosterone levels and marked improvement of depression was observed.

Conclusion: Swyer syndrome is a rare disease with a high risk of malignant transformation of residual gonadal tissue. This case study reports an unusual course of disease, where after 70 years we did not register malignant overthrow of gonads and their surgical extirpation has led to improvement of hyperandrogenism and quality of life.