MRI Evaluation of Disorder of Sex Development with Uterus, Ovaries, and Bilateral Adrenal Hyperplasia in a Phenotypic Male: A Case Report

Abstract

Abstract Disorders of sex development (DSD) are rare congenital conditions characterized by discordance between chromosomal, gonadal, and phenotypic sex. Adult presentation is uncommon and frequently associated with delayed diagnosis. We report a rare case of a 42-year-old phenotypic male presenting with infertility, ambiguous genitalia, and bilateral non-palpable testes. Magnetic resonance imaging (MRI) performed for evaluation of suspected undescended testes revealed a rudimentary uterus, bilateral ovarian tissue, a proximal vaginal canal, hypoplastic prostate, and bilateral adrenal hyperplasia. A fat-containing left adrenal lesion consistent with adrenal myelolipoma was also identified. Hormonal evaluation demonstrated elevated serum 17-hydroxyprogesterone levels with reduced testosterone levels. Karyotype analysis revealed a 46,XX chromosomal pattern. MRI provided comprehensive anatomical characterization of internal reproductive and adrenal abnormalities, facilitating the diagnosis of congenital adrenal hyperplasia-associated disorder of sex development. This case highlights the indispensable role of MRI in evaluating adult DSD and emphasizes the importance of multidisciplinary clinical, endocrine, genetic, and radiological correlation for accurate diagnosis and management.