Polandʹs Syndrome and premature ovarian failure

A 19-year-old female with Polandʹs Syndrome with associated left amastia, scoliosis, and left Sprengel deformity developed secondary amenorrhea from premature ovarian failure. Her menarche was at 13 years of age, and periods were regular and monthly until 15 years of age when her periods suddenly stopped. Her hormonal evaluation was significant for elevated FSH (46.5 mIU/ml) and LH (28.5 mIU/ml), and low estradiol (23 pg/ml). Anti-ovarian antibody level was less than 2 units (normal < 4 units). Her chromosomes were 46XX, by both standard karyotype and by fluorescence in situ hybridization. On transabdominal and transvaginal ultrasonography, ovaries were not visualized, the uterus was of normal size and anteverted and both kidneys were normal. The patient began hormone replacement therapy with conjugated estrogen (Premarin®) 0.625 mg po daily and progestin (Provera®) 5 mg on days 20 to 25. Because of menopausal symptoms, she was switched to a combination oral contraceptive (OC) with 20 mcg ethinyl estradiol that was eventually increased to 30 mcg. Her menopausal symptoms (hot flashes and sweating) improved on the continuous 30 mcg ethinyl estradiol combination OC. Following a comprehensive review of the literature, this is the first reported case of Polandʹs Syndrome associated with premature ovarian failure; however, this association may be coincidental.