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

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...

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Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2016-01-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520302947
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spelling doaj-8f1adf5e8ace404b8ed69b0339fdf6332021-04-30T07:24:16ZengElsevierAACE Clinical Case Reports2376-06052016-01-0122e129e132A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal HyperplasiaJamil B. Alkhaddo, MD0Ameer Khowaja, MD1Asad Saeed, MD2Katherine Cotter, MD3Colleen Rivard, MD4Melissa A. Geller, MD, MS5Elizabeth Louise Dickson, MD6Christopher J. Weight, MD, MS7James Redmon, MD8Division 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.Division of Diabetes, Endocrinology and Metabolism, Department of Medicine,Division of Diabetes, Endocrinology and Metabolism, Department of Medicine,Department of Urology, andDepartment of Obstetrics, Gynecology, and Women's Health, University of Minnesota, Minneapolis, Minnesota.Department of Obstetrics, Gynecology, and Women's Health, University of Minnesota, Minneapolis, Minnesota.Department of Obstetrics, Gynecology, and Women's Health, University of Minnesota, Minneapolis, Minnesota.Department of Urology, andDivision of Diabetes, Endocrinology and Metabolism, Department of Medicine,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 differentiationhttp://www.sciencedirect.com/science/article/pii/S2376060520302947
collection DOAJ
language English
format Article
sources DOAJ
author 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
spellingShingle 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
A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia
AACE Clinical Case Reports
author_facet 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
author_sort Jamil B. Alkhaddo, MD
title A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia
title_short A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia
title_full A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia
title_fullStr A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia
title_full_unstemmed A 78-Year-Old Infertile Man Presented With Sepsis and Abdominal and Pelvic Masses, A Rare Case of Congenital Adrenal Hyperplasia
title_sort 78-year-old infertile man presented with sepsis and abdominal and pelvic masses, a rare case of congenital adrenal hyperplasia
publisher Elsevier
series AACE Clinical Case Reports
issn 2376-0605
publishDate 2016-01-01
description 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
url http://www.sciencedirect.com/science/article/pii/S2376060520302947
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