Swyer’s Syndrome: In a Fifty-Year-Old Female

Swyer's Syndrome with Mixed Ovarian Malignant Germ Cell Tumor and Ovarian Gonadoblastoma

“…Affected individuals have an XY karyotype but the external and internal genitalia is of the female type. [ 1 ] It is estimated that 15% of complete sporadic 46, XY sex reversal cases (pure gonadal dysgenesis) are due to Sex-detemining Region Y (SRY) point mutations, another 15% are due to SRY deletions from aberrant X/Y recombinations, but almost 70% of all cases have unknown origin. [ 2 ] It is an extremely rare condition.…”

“…Given the high oncogenic potential of the disease, bilateral oophorectomy should be seriously taken into account in this condition as a prophylactic and therapeutic treatment. [ 1 2 3 ] These patients could have a normal life expectancy, provided that they have undergone bilateral gonadectomy without malignant change. They need to be on lifelong HRT and could have normal sexual relations and theoretically they can conceive using donor oocytes and artificial reproductive techniques.…”

Kadın İnfertilitesinin Genetik Nedenlerine Güncel Yaklaşım ve Genetik Danışmanlık

“…Studies have shown that the risk of developing PCOS in daughters of women with PCOS is five times higher than in a healthy society (36). Similarly, it has been observed that PCOS disease develops in approximately 60-70% of the daughters of women with PCOS (37). PCOS-related candidate genes (DENND1A, LHCGR, FSHR, ZNF217, YAP1, INSR, RAB5B, C9orf3) have been identified via genome-wide association studies.…”

“…The vagina, uterus, and fallopian tube are developed in the female gender in a hypoplaztic manner. The gonads consist of fibrous stroma, also usually there is no breast development (37,38). The phenotypic…”

“…difference between complete and incomplete gonadal dysgenesis depends on the level of differentiation of the testicular tissue and the production of testosterone and AMH by the fetal testicle (37).…”