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Primary Ovarian Insufficiency Masquerading as Müllerian Agenesis: a Case Report

Year: 2026

Type: article

Abstract: Objective: To describe a case of primary ovarian insufficiency (POI) initially misdiagnosed as Müllerian agenesis and emphasize the importance of diagnostic reassessment in patients with inconsistent clinical findings. Design: Case report Materials and Methods: Clinical history, imaging, and laboratory evaluation were reviewed. Hormonal testing included follicle stimulating hormone (FSH), estradiol, and anti-Müllerian hormone. Genetic and autoimmune testing were performed. Prior and repeat imaging studies were compared to reassess the diagnosis. Case presentation/Results A 36-year-old G0P0 female with primary amenorrhea and osteopenia was previously diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome after initial imaging suggested the absence of a uterus. She had normal pubic hair development but minimal breast development, raising concern for underlying endocrine dysfunction. Pelvic imaging at age 28 again demonstrated remnant ovaries and uterine agenesis. She was subsequently started on transdermal estradiol by her gynecologist. Most recently, patient developed vaginal bleeding, which prompted referral to Reproductive Endocrinology and Infertility. Repeat pelvic ultrasound demonstrated a uterus, leading to reconsideration of the prior diagnosis of MRKH. Laboratory evaluation supported POI with hypoestrogenism, elevated FSH, and diminished ovarian reserve. Karyotype was 46, XX and autoimmune testing was negative. She was managed with increased dosing of transdermal estradiol and oral progesterone for endometrial protection with planned longitudinal follow-up. Conclusions: This case highlights the potential for misdiagnosis between POI and Müllerian anomalies when initial evaluation is limited. The presence of incomplete pubertal development and evolving clinical findings should prompt reassessment. Integration of imaging and laboratory data is essential to establish an accurate diagnosis, guide management, and optimize long-term reproductive outcomes.

Source: North American Proceedings in Gynecology and Obstetrics - Supplemental

DOI: 10.54053/001c.165562

Authors: Heather Wang, Nicolas Johnson, Michael Thomas

Institutions: Mercy St. Vincent Medical Center, University of Cincinnati

Language: English

Topic: Ovarian function and disorders

Subfield: Reproductive Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W7171043252

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