A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma

Takeshi Nigawara, Kazunori Kageyama, Satoru Sakihara, Shinobu Takayasu, Masayuki Kawahara, Atsushi Imai, Chikara Ohyama, Takeshi Usui, Hironobu Sasano, Toshihiro Suda

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)291-297
Number of pages7
Journalendocrine journal
Volume55
Issue number2
DOIs
Publication statusPublished - 2008

Keywords

  • Adrenal incidentaloma
  • Adrenocortical adenoma
  • Congenital adrenal hyperplasia
  • Nonclassical 21-hydroxylase deficiency
  • Senescence

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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