Swyer syndrome is characterized by a 46 XY karyotype (Pic. a female phenotype with normal female external genitalia, and a hypoplastic to normal uterus, streak gonads and primary amenorrhea (missing menstruation cycles). Someone diagnosed with Swyer syndrome is a female having varied genetic information comprising male sexual chromosomes. It belongs to this kind of sexual abnormality. Gonads don’t have any hormonal or reproductive capacity. This also contributes to hormonal imbalance characterized by elevated gonadotropins, normal female levels of androgens and reduced levels of oestrogens. Streak gonads exhibit fibrous tissue which vaguely looks like ovarian stroma but no pores are available. Vast majority of patients afflicted by Swyer syndrome reveal minimal breast growth. Minimal breast augmentation reflects peripheral aromatization of androgens (the compound modification of androgens into female sexual hormones occurring in peripheral tissues of the body).
Swyer syndrome is really hard to discover as before puberty (even in ordinary females) the ovaries play minimum part in physiological alterations. The issue manifests itself in puberty as a consequence of an inability of this series gonads to produce sex hormones (both oestrogens and androgens). The prevalence of Swyer syndrome reported in literature is 1: 100 000.
Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. The person is externally female with streak gonads, and if left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing tumors) and a typical medical treatment would include hormone replacement therapy. The syndrome was named by Gerald Swyer, an endocrinologist, based in London, United Kingdom.
Symptoms of Swyer Syndrome
- delayed puberty
- primary amenorrhea
- increased level of FSH (follicle-stimulating hormone) and LH (luteinizing hormone)
- low oestrogen conecentrations
- minimal breast enlargement
- minimal development of pubic hair (sparse pubic hair)
Prevention of Swyer Syndrome
As stated previously, Swyer syndrome is closely related with genetic alterations. Nowadays there are processes focusing on genetic evaluation that could show this alteration in in gametes or embryos. Particularly, the PGS (pre-implantation genetic screening)/PGD (pre-implantation genetic analysis) allows analyzing the DNA of eggs or embryos to pick the ones that carry particular harmful characteristics. This assisted reproduction technique might help to show the abnormalities of sexual determining areas of DNA punctually.
