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

研究成果: Article査読

15 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)291-297
ページ数7
ジャーナルendocrine journal
55
2
DOI
出版ステータスPublished - 2008

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

フィンガープリント

「A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル