The last day of February is the Rare Disease Day. Dr. Li Yu, Deputy Director of the Division of Reproductive Endocrinology and Infertility at Sun Yat-sen Memorial Hospital, presented five challenging cases related to a rare disease that they have treated. These cases have perplexed hospitals for years due to their unclear causes and all manifest as primary infertility.
Among them, one case had primary amenorrhea, three cases had recurrent benign ovarian follicular cysts and prolonged menstrual periods, and one case was previously misdiagnosed as polycystic ovary syndrome.
Ultimately, these cases were diagnosed as a rare disease called "congenital adrenal hyperplasia," a condition inherited in an autosomal recessive manner. This rare disease has been included in the initial list of recognized rare diseases by the Chinese health authority.
According to Dr. Li, reproductive endocrinologists are now able to assist these patients in achieving pregnancy through advanced methods, such as segmented ovarian stimulation and frozen-thawed embryo transfer. These methods help them fulfill their wishes of conceiving.
Author | Hannah
Editor | Steven, Monica, James
