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

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

AACE Clinical Case Reports (Jan 2016)

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

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

Affiliations

Jamil B. Alkhaddo, MD: Division of Diabetes, Endocrinology and Metabolism, Department of Medicine,; Address correspondence to Dr. Jamil B. Alkhaddo, Department of Diabetes, Endocrinology and Metabolism, University of Minnesota, 516 Delaware Street, SE, MMC 101, Minneapolis, Minnesota 55455.
Ameer Khowaja, MD: Division of Diabetes, Endocrinology and Metabolism, Department of Medicine,
Asad Saeed, MD: Division of Diabetes, Endocrinology and Metabolism, Department of Medicine,
Katherine Cotter, MD: Department of Urology, and
Colleen Rivard, MD: Department of Obstetrics, Gynecology, and Women's Health, University of Minnesota, Minneapolis, Minnesota.
Melissa A. Geller, MD, MS: Department of Obstetrics, Gynecology, and Women's Health, University of Minnesota, Minneapolis, Minnesota.
Elizabeth Louise Dickson, MD: Department of Obstetrics, Gynecology, and Women's Health, University of Minnesota, Minneapolis, Minnesota.
Christopher J. Weight, MD, MS: Department of Urology, and
James Redmon, MD: Division of Diabetes, Endocrinology and Metabolism, Department of Medicine,

Journal volume & issue: Vol. 2, no. 2
pp. e129 – e132

Abstract

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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

Published in AACE Clinical Case Reports

ISSN: 2376-0605 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://www.journals.elsevier.com/aace-clinical-case-reports

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