Swyer syndrome: discordance in genotype and phenotype
- Author:
Ong-Jao Ednalyn T.
;
Oblepias Enrico Gil C.
- Publication Type:Journal Article
- MeSH:
Human;
Adult;
GONADAL DYSGENESIS, 46,XY;
AMENORRHEA
- From:
Philippine Journal of Reproductive Endocrinology and Infertility
2010;7():30-34
- CountryPhilippines
- Language:English
-
Abstract:
Swyer syndrome is a medical condition that begins with a mutation in the SRY gene that favors the development of female reproductive organs despite the presence of Y chromosome. The aberrancy in testicular differentiation will lead to abnormal testosterone production and impaired Mullerian Inhibiting Substance secretion resulting in the formation of Mullerian derived structures and regression of Wolffian ducts. Since an XY karyotype is incompatible with follicle formation, the gonads will degenerate and become streak fibrous tissue. Patients are phenotypically female at birth with a uterus, fallopian tubes and bilateral steak gonads. Management involves puberty induction and bone loss prevention through combined hormonal replacement therapy. Bilateral gonadectomy should be performed soon after the diagnosis because of the risk of malignancy. Infertile, childbearing is only through assisted reproductive technology and oocyte donation.
