A Case of Iron Overload–Associated Hypogonadism and Mayer–Rokitansky–Küster–Hauser Syndrome in a Patient With Thalassemia
Year: 2025
Type: article
Study design: Case Report
Abstract: We report a rare case of a 22-year-old woman with transfusion-dependent beta-thalassemia major who presented with primary amenorrhea. Work-up revealed dual etiologies: hypogonadotropic hypogonadism attributable to pituitary iron overload and müllerian agenesis consistent with Mayer–Rokitansky–Küster–Hauser syndrome. Magnetic resonance imaging demonstrated iron deposition in the anterior pituitary and hypoplastic müllerian structures. This case highlights a rare but possible coexistence of iron-induced hypogonadotropic hypogonadism and Mayer–Rokitansky–Küster–Hauser syndrome in patients with thalassemia major. Although each condition may occur independently, their co-occurrence is infrequently reported. Early recognition of overlapping pathologies is critical for timely diagnosis, management, and counseling.
Institution: Bangalore Medical College and Research Institute
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414902441