A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia

ABSTRACT Objective: The condition of 46XX congenital adrenal hyperplasia (CAH) causes a wide spectrum of phenotypic manifestations, ranging from ambiguous genitalia to complete virilization with an absence of testicular tissue. While this condition is usually diagnosed during childhood, rare cases have been diagnosed later in life. Methods: We report the case of an elderly male patient presenting at a tertiary health care facility in the United States with severe CAH. He was diagnosed as a chromosome 46XX phenotypic male with metastatic cervical cancer during a workup for gross hematuria. Results: A 78-year-old infertile male presented with sepsis, abdominal pain, and abdominal and pelvic masses. Imaging studies unexpectedly showed a uterus and an adnexal mass. Karyotype analysis revealed the patient as 46XX. The results of subsequent laboratory analyses were consistent with CAH. Surgical removal of the uterus revealed a cervical adenocarcinoma and a benign ovarian mass. Conclusion: This case highlights the potential for late diagnosis of severe CAH in 46XX individuals and the risks associated with unrecognized CAH. Abbreviations: CAH = Congenital adrenal hyperplasia DSD = disorder of sexual differentiation