Diņo, Erness Mae T., MD.

Swyer syndrome : a gonadal switch / Erness Mae T. Diņo. - Fairview, Quezon City Department of Obstetrics and Gynecology, FEU-NRMF, 2018 - illustrations (black and white), photos (colored); (in folder)

Includes appendices and bibliographical references.

ABSTRACT: 46 XY complete gonadal dysgenesis of Swyer Syndrome is a rare type of Disorder of Sex Development (DSD). This is a case of 32-year old, nulligravid, who has primary amenorrhea, with normal internal and external female genitalia, but has underdeveloped secondary sexual characteristics. Biochemically, a hypergonadotropic hypogonadism state is depicted by the elevated luteinizing hormone (LH) at 33.53 mIU/ml and low serum estradiol level at <5.00 pg/ml. A 46 XY karyotype through chromosomal analysis established its diagnosis. ultrasound revealed small uterus with small bilateral ovaries. The patient had withdraw bleeding after 5 months of estrogen therapy, which was then shifted to combined oral contraceptive pills that led to development of the breast and regular menstruation. Bilateral gonadectomy was subsequently done due to the increased risk of gonadal malignant.

Research - Department of Obstetrics & Gynecology

OB20180003