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

Jamil B. Alkhaddo, Ameer Khowaja, Asad Saeed, Katherine Cotter, Colleen Rivard, Melissa A. Geller, Elizabeth Louise Dickson, Christopher J. Weight, James Redmon

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish (US)
Pages (from-to)e129-e132
JournalAACE Clinical Case Reports
Volume2
Issue number2
DOIs
StatePublished - Apr 1 2016

Fingerprint

Dive into the research topics of 'A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia'. Together they form a unique fingerprint.

Cite this