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An unusual case of ovarian resistance syndrome
Simone Katz1, John Marshall, Omid Khorram
1Department of Obstetrics and Gynecology, Harbor-UCLA Medical Center, Torrance, California 90509, USA.
Background:
Women who present with elevated gonadotropins, primary amenorrhea, and sexual infantilism usually have an abnormal karyotype or premature ovarian failure. We describe a rare case of ovarian resistance secondary to a gonadotropin post-receptor defect.
Case:
An 18-year-old presented with amenorrhea and sexual infantilism. Original workup led physicians to believe the patient had uterine agenesis with premature ovarian failure. Ovarian biopsy proved the presence of follicles. After 48 months on hormone replacement, the patient went through the stages of puberty, including menarche. Re-evaluation proved the presence of a uterus.
Conclusion:
Ovarian resistance is a rare cause of hypergonadotropic hypogonadism. With this type of ovarian dysfunction, women present early in life with amenorrhea, elevated gonadotropins, and normal karyotypes.