Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compo...

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Main Authors: Ingrid Nermoen, Ivar Følling, Kjetil Vegge, Arne Larmo, Bjørn Gunnar Nedrebø, Eystein Sverre Husebye, Kristian Løvås
Format: Article
Language:English
Published: Wiley 2009-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2009/916891
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author Ingrid Nermoen
Ivar Følling
Kjetil Vegge
Arne Larmo
Bjørn Gunnar Nedrebø
Eystein Sverre Husebye
Kristian Løvås
author_facet Ingrid Nermoen
Ivar Følling
Kjetil Vegge
Arne Larmo
Bjørn Gunnar Nedrebø
Eystein Sverre Husebye
Kristian Løvås
author_sort Ingrid Nermoen
collection DOAJ
description We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. The masses were not removed since myelolipomas are considered benign tumors, and the tumor size did not increase during four- and nine-year observation periods. An adrenal myelolipoma is an important exception to the rule that large tumours should be removed. Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should be considered as a differential diagnosis of patients with adrenal masses or adrenal myelolipomas.
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id doaj-art-6cf59dfcc98740e9a424048361bdeb39
institution Kabale University
issn 1687-9627
1687-9635
language English
publishDate 2009-01-01
publisher Wiley
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series Case Reports in Medicine
spelling doaj-art-6cf59dfcc98740e9a424048361bdeb392025-02-03T01:13:12ZengWileyCase Reports in Medicine1687-96271687-96352009-01-01200910.1155/2009/916891916891Two Adults with Adrenal Myelolipoma and 21-Hydroxylase DeficiencyIngrid Nermoen0Ivar Følling1Kjetil Vegge2Arne Larmo3Bjørn Gunnar Nedrebø4Eystein Sverre Husebye5Kristian Løvås6Department of Endocrinology, Akershus University Hospital, 1478 Lørenskog, NorwayDepartment of Endocrinology, Akershus University Hospital, 1478 Lørenskog, NorwayDepartment of Radiology, Akershus University Hospital, 1478 Lørenskog, NorwayDepartment of Radiology, Akershus University Hospital, 1478 Lørenskog, NorwayDepartment of Medicine, Haukeland University Hospital, 5021 Bergen, NorwayDepartment of Medicine, Haukeland University Hospital, 5021 Bergen, NorwayDepartment of Medicine, Haukeland University Hospital, 5021 Bergen, NorwayWe present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. The masses were not removed since myelolipomas are considered benign tumors, and the tumor size did not increase during four- and nine-year observation periods. An adrenal myelolipoma is an important exception to the rule that large tumours should be removed. Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should be considered as a differential diagnosis of patients with adrenal masses or adrenal myelolipomas.http://dx.doi.org/10.1155/2009/916891
spellingShingle Ingrid Nermoen
Ivar Følling
Kjetil Vegge
Arne Larmo
Bjørn Gunnar Nedrebø
Eystein Sverre Husebye
Kristian Løvås
Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
Case Reports in Medicine
title Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
title_full Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
title_fullStr Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
title_full_unstemmed Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
title_short Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
title_sort two adults with adrenal myelolipoma and 21 hydroxylase deficiency
url http://dx.doi.org/10.1155/2009/916891
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AT arnelarmo twoadultswithadrenalmyelolipomaand21hydroxylasedeficiency
AT bjørngunnarnedrebø twoadultswithadrenalmyelolipomaand21hydroxylasedeficiency
AT eysteinsverrehusebye twoadultswithadrenalmyelolipomaand21hydroxylasedeficiency
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