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Korean Journal of Obstetrics & Gynecology 2005;48(6):1578-1584.
Published online June 1, 2005.
A Case of Early Fetal Testicular Regression Syndrome.
Ja Yeon Kim, Ku Ri Hwang, Young Min Choi, Kyung Soo Lee, Seung Soo Han, Jae Man Bae, Seung Ho Lee, Byung Chul Jee, Seung Yup Ku, Chang Suk Suh, Seok Hyun Kim, Jung Gu Kim, Shin Yong Moon
Department of Obstetrics and Gynecology, College of Medicine, Institute of Reproductive Medicine, Seoul National University, Seoul, Korea. ymchoi@snu.ac.kr
Abstract
A 29-year-old phenotypic female with 46,XY genotype presented with primary amenorrhea, no breast development, no axillary hair, no pubic hair, and clitomegaly. The vagina was blind pouch. The vagina and urethra shared same outlet. Plasma follicle-stimulating hormone (FSH) was in the normal range for female subject. Plasma luteinizing-hormone (LH) and testosterone were elevated. Plasma estradiol (E2) level was markedly low. At laparoscopy, no uterus, only vestigial remnants of fallopian tube was seen and very small streak gonad was found. According to the pathologic report, they were remnant of Mullerian duct and salpinx ("right adnexa") and streak gonad with vas deference ("left adnexa"). On the basis of the clinical, genotypic, and endocrine feature, the patient was diagnosed as testicular regression syndrome. We present it with brief review of literature.
Key Words: Testicular regression syndrome, 46, XY agonadal person


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