Clinical Characteristics of End-Organ Failure as a Cause of Primary Amenorrhea: Multicenter Study in Korean Population
7 affiliations
- 1Department of Obstetrics and Gynecology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea .
- 2Department of Obstetrics and Gynecology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea .
- 3Department of Obstetrics and Gynecology, CHA Bundang Medical Center, CHA University, Seongnam, Korea .
- 4Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Korea .
- 5Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea .
- 6Department of Obstetrics and Gynecology, Ajou University School of Medicine, Suwon, Korea .
- 7Department of Obstetrics and Gynecology, Eunpyeong St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea .
Abstract
Background: Primary amenorrhea is defined as the absence of menstruation by the age of 13 years in the absence of secondary sexual characteristics or by age 15 in the presence of normal secondary sexual development. It has multiple potential causes, and accurate diagnosis is crucial for effective treatment. This study aimed to provide insights into the incidence and distribution of primary amenorrhea due to congenital anomalies or disorders of sexual development (DSD) in Korea.
Methods: A retrospective multicenter cohort study was conducted, analyzing data from January 2001 to December 2016. Patient history, clinical characteristics, and management approaches for primary amenorrhea were compared based on the underlying causes. The DSD group included individuals with XX DSD, XY DSD, and sex chromosome DSD. The Müllerian agenesis group consisted of 7 different types of anomalies: Mayer–Rokitansky–Küster–Hauser syndrome, uterine agenesis, cervical agenesis, cervicovaginal agenesis, vaginal agenesis, transverse vaginal septum, and imperforate hymen.
Results: A total of 359 patients were enrolled in the study, including 73 patients in the DSD group and 286 patients in the Müllerian anomaly groups. The age at diagnosis differed significantly among the Müllerian anomaly groups (P < 0.001), while no significant age differences were observed among the DSD groups (P = 0.259). Treatment approaches varied depending on the type of anomaly: approximately 38.8% of patients with Müllerian anomalies underwent surgical procedures for vaginal construction, while 62% of patients with XY DSD underwent gonadectomy.
Conclusion: The findings from the past 16 years highlight key clinical characteristics of DSD and Müllerian agenesis in Korea.
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BibTeX
@article{chung2026clinical,
title = {{Clinical Characteristics of End-Organ Failure as a Cause of Primary Amenorrhea: Multicenter Study in Korean Population}},
author = {Yun Soo Chung and Bo Hyon Yun and Hyun Jin Kim and Mee-Hwa Lee and Hoon Kim and Dong-Yun Lee and Sa Ra Lee and Miran Kim and Hyun Hee Cho and Byung Moon Kang},
journal = {Journal of Korean Medical Science},
year = {2026},
month = jul,
doi = {10.3346/jkms.2026.41.e270},
url = {https://doi.org/10.3346/jkms.2026.41.e270},
note = {CC BY-NC 4.0},
}
RIS
TY - JOUR
TI - Clinical Characteristics of End-Organ Failure as a Cause of Primary Amenorrhea: Multicenter Study in Korean Population
AU - Yun Soo Chung
AU - Bo Hyon Yun
AU - Hyun Jin Kim
AU - Mee-Hwa Lee
AU - Hoon Kim
AU - Dong-Yun Lee
AU - Sa Ra Lee
AU - Miran Kim
AU - Hyun Hee Cho
AU - Byung Moon Kang
PY - 2026
DA - 2026/07/06
JO - Journal of Korean Medical Science
DO - 10.3346/jkms.2026.41.e270
UR - https://doi.org/10.3346/jkms.2026.41.e270
AB - Background: Primary amenorrhea is defined as the absence of menstruation by the age of 13 years in the absence of secondary sexual characteristics or by age 15 in the presence of normal secondary sexual development. It has multiple potential causes, and accurate diagnosis is crucial for effective treatment. This study aimed to provide insights into the incidence and distribution of primary amenorrhea due to congenital anomalies or disorders of sexual development (DSD) in Korea. Methods: A retrospective multicenter cohort study was conducted, analyzing data from January 2001 to December 2016. Patient history, clinical characteristics, and management approaches for primary amenorrhea were compared based on the underlying causes. The DSD group included individuals with XX DSD, XY DSD, and sex chromosome DSD. The Müllerian agenesis group consisted of 7 different types of anomalies: Mayer–Rokitansky–Küster–Hauser syndrome, uterine agenesis, cervical agenesis, cervicovaginal agenesis, vaginal agenesis, transverse vaginal septum, and imperforate hymen. Results: A total of 359 patients were enrolled in the study, including 73 patients in the DSD group and 286 patients in the Müllerian anomaly groups. The age at diagnosis differed significantly among the Müllerian anomaly groups (P < 0.001), while no significant age differences were observed among the DSD groups (P = 0.259). Treatment approaches varied depending on the type of anomaly: approximately 38.8% of patients with Müllerian anomalies underwent surgical procedures for vaginal construction, while 62% of patients with XY DSD underwent gonadectomy. Conclusion: The findings from the past 16 years highlight key clinical characteristics of DSD and Müllerian agenesis in Korea.
SN - 1011-8934
SN - 1598-6357
ER -