Endocrinol Metab > Volume 23(4); 2008 > Article
Journal of Korean Endocrine Society 2008;23(4):277-283.
DOI: https://doi.org/10.3803/jkes.2008.23.4.277    Published online August 1, 2008.
A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene.
Jun Mo Sung, Hyung Young Yoon, Hyon J Kim, Mi Ran Kim, Tae Hi Lee, Hee Jae Joo, Won Il Park, Yoon Sok Chung
1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Korea.
2Department of Medical Genetics, Ajou University School of Medicine, Korea.
3Department of Obstetrics and Gynecology, Ajou University School of Medicine, Korea.
4Department of Pathology, Ajou University School of Medicine, Korea.
5Department of Obstetrics and Gynecology, Eulji University School of Medicine, Korea.
Abstract
Androgen insensitivity syndrome (AIS) is a hereditary disorder that's characterized by the female phenotype in spite of the 46, XY karyotype, and this is caused by mutation of the androgen receptor gene. We experienced a case of the complete type of AIS. A 20-yr-old woman was evaluated for primary amenorrhea. The patient had external genitalia of the female phenotype, but she had no ovaries or uterus. The abdominal computed tomography scan revealed suspected testes in the pelvic cavity. The chromosome analysis was reported as 46, XY. We identified an androgen receptor gene novel mutation, including CAT deletion at the position 1925~1927 and AG deletion at the position 2129~2130 of exon 5, in both the proband and her sister. The patient underwent laparoscopic gonadectomy due to the possibility of malignant tumor developing in the testes. The subject is now on estrogen supplementation and she is under regular follow-up; she is in a good condition.
Key Words: androgen-insensitivity syndrome, androgen receptor, novel mutatio


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