A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene
새로운 유전자 돌연변이가 자매에게서 확인된 완전형 안드로겐 저항성 증후군 1예
성, 준모; 윤, 형영; 김, 현주; 김, 미란; 이, 태희; 주, 희재; 박, 원일; 정, 윤석
Journal of Korean Endocrine Society, 23(4):277-283, 2008
Journal of Korean Endocrine Society; 대한내분비학회지
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.
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