A Male Case of Nonclassical 21-hydroxylase Deficiency First Manifested in His Sixties with Adrenocortical Incidentaloma

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  • NIGAWARA Takeshi
    Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
  • KAGEYAMA Kazunori
    Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
  • SAKIHARA Satoru
    Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
  • TAKAYASU Shinobu
    Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
  • KAWAHARA Masayuki
    Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine
  • IMAI Atsushi
    Department of Urology, Hirosaki University Graduate School of Medicine
  • OHYAMA Chikara
    Department of Urology, Hirosaki University Graduate School of Medicine
  • USUI Takeshi
    Department of Clinical Research, Kyoto Medical Center
  • SASANO Hironobu
    Department of Pathology, Tohoku University Graduate School of Medicine
  • SUDA Toshihiro
    Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine

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Abstract

Nonclassical form of 21-hydroxylase deficiency (NC 21OHD) as a frequent variant on the milder end of the disease spectrum has been widely acknowledged, but its potential contribution to adrenocortical tumorigenesis has not been fully elucidated. We report a 66-year old male case of bilateral adrenocortical incidentaloma, associated with partial 21OHD without any episodes of hypoadrenocorticism in his past history. He was demonstrated to be a compound heterozygous mutant of CYP21A2 gene (IVS2-13A/C>G/I172N). The two tumors in the left adrenal, which were interpreted as myelolipoma by imaging studies, were followed by sequential observation, whereas the contralateral large solid tumor associated with inhomogeneous radiological appearance was subsequently removed. The resected tumor was diagnosed an adrenocortical adenoma, which was devoid of P450c21 immunoreactivity. 21OHD is often associated with benign adrenocortical tumors, but bilateral adrenal tumors with heterogeneous components in both adrenals have not been reported to the best of our knowledge.<br>

Journal

  • Endocrine Journal

    Endocrine Journal 55 (2), 291-297, 2008

    The Japan Endocrine Society

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