A Case of Swyer Syndrome Diagnosed in Infant.
- Author:
Seung Taek YU
1
;
Il Ji OH
;
Eun Jung CHOI
;
Myoung Eun HONG
;
Jong Geon KIM
;
Chang Woo LEE
;
Yeon Kyun OH
Author Information
1. Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea. oyk5412@wonkwang.ac.kr
- Publication Type:Case Report
- Keywords:
Swyer syndrome
- MeSH:
Amenorrhea;
Female;
Fetal Growth Retardation;
Genitalia;
Gonadal Dysgenesis, 46,XY*;
Humans;
Infant*;
Karyotype;
Menstruation;
Ovary;
Phenotype;
Puberty, Delayed;
Sexual Infantilism;
Testis;
Uterus;
Vagina;
Young Adult
- From:Korean Journal of Perinatology
2005;16(2):171-175
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Swyer syndrome is characterized by a female phenotype, normal to tall stature, sexual infantilism with primary amenorrhea and 46,XY karyotype. The internal genitalia are female with uterus and full vagina, but have no ovaries or testis. Swyer syndrome is often diagnosed when young adults are evaluated for delayed puberty, as menstruation dose not occur naturally. We experienced a case of Swyer syndrome diagnosed incidentally in course of evaluating intrauterine growth retardation and delayed growth in infant. So, we report a case of Swyer syndrome with a brief review of literatures.
