• Clinical and Experimental Reproductive Medicine
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• 제28권2호
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• pp.169-171
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• 2001

Objective: To study the etiology of primary amenorrhea in 19-aged woman. Materials and Methods: Case report. Results: I found that there were not gonads and organ of mullerian ducts origin on diagnostic laparoscopy. She was normal 46XX on chromosomal study and normal external genitalia except short vaginal canal. Conclusion: It is very rare that absent gonads and lack of mullerian ducts with 46XX female and primary amenorrhea.

• 대한영상의학회지
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• 제79권6호
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• pp.337-339
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• 2018

난소위체 낭종은 대부분 양성 단순 낭종의 형태로 나타나며 자궁부속기 종괴의 10~20%를 차지한다. 경계성 혹은 악성 난소위체 종양은 드물며, 매끈한 내부 벽에 유상돌기를 포함한다. 저자들은 2일간의 좌하복부 불편감을 주소로 내원한 19세 여성에서 발생한 난소위체 장액성 경계성 종양을 경험하여 초음파, 컴퓨터단층촬영과 자기공명영상의 소견을 보고하고자 한다.

• Clinical and Experimental Reproductive Medicine
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• 제50권3호
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.