Revisiting Primary Amenorrhea in an Adult Woman with 46,XY Complete Gonadal Dysgenesis: A Case Report.
- 1Department of Obstetrics and Gynecology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin General Hospital, Bandung, Indonesia.
Abstract
46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of primary amenorrhea characterized by a female phenotype, gonadal failure, estrogen deficiency, and an increased risk of gonadal malignancy. A 29-year-old woman was referred for primary amenorrhea with a previous suspicion of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. She had absent breast development (Tanner B1), sparse pubic hair (Tanner P2), normal female external genitalia, and a visible vaginal introitus. Review of investigations performed during her earlier evaluation showed a 46,XY karyotype, hypergonadotropic hypogonadism, severe hypoestrogenism, and very low testosterone. Current pelvic imaging demonstrated a hypoplastic uterus with a central stripe and non-visualization of the ovaries or gonadal structures. Reassessment of the previously documented cytogenetic, endocrine, clinical, and imaging findings was highly consistent with 46,XY complete gonadal dysgenesis rather than MRKH syndrome. The case illustrates the importance of integrating previously available diagnostic information when evaluating adults with longstanding primary amenorrhea. Careful review of previous investigations may prevent persistent diagnostic misclassification in patients with primary amenorrhea. This case also highlights the need for individualized multidisciplinary evaluation when definitive gonadal localization and histopathological confirmation are not yet available.
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BibTeX
@article{putri2026revisiting,
title = {{Revisiting Primary Amenorrhea in an Adult Woman with 46,XY Complete Gonadal Dysgenesis: A Case Report.}},
author = {Diah Arumsari Sanrisa Putri and Ruswana Anwar},
journal = {International journal of women's health},
year = {2026},
month = nov,
doi = {10.2147/ijwh.s629200},
url = {https://europepmc.org/article/MED/42999841},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Revisiting Primary Amenorrhea in an Adult Woman with 46,XY Complete Gonadal Dysgenesis: A Case Report.
AU - Diah Arumsari Sanrisa Putri
AU - Ruswana Anwar
PY - 2026
DA - 2026/11/03
JO - International journal of women's health
DO - 10.2147/ijwh.s629200
UR - https://europepmc.org/article/MED/42999841
AB - 46,XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of primary amenorrhea characterized by a female phenotype, gonadal failure, estrogen deficiency, and an increased risk of gonadal malignancy. A 29-year-old woman was referred for primary amenorrhea with a previous suspicion of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. She had absent breast development (Tanner B1), sparse pubic hair (Tanner P2), normal female external genitalia, and a visible vaginal introitus. Review of investigations performed during her earlier evaluation showed a 46,XY karyotype, hypergonadotropic hypogonadism, severe hypoestrogenism, and very low testosterone. Current pelvic imaging demonstrated a hypoplastic uterus with a central stripe and non-visualization of the ovaries or gonadal structures. Reassessment of the previously documented cytogenetic, endocrine, clinical, and imaging findings was highly consistent with 46,XY complete gonadal dysgenesis rather than MRKH syndrome. The case illustrates the importance of integrating previously available diagnostic information when evaluating adults with longstanding primary amenorrhea. Careful review of previous investigations may prevent persistent diagnostic misclassification in patients with primary amenorrhea. This case also highlights the need for individualized multidisciplinary evaluation when definitive gonadal localization and histopathological confirmation are not yet available.
SN - 1179-1411
ER -