TY - JOUR
T1 - A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma
AU - Nigawara, Takeshi
AU - Kageyama, Kazunori
AU - Sakihara, Satoru
AU - Takayasu, Shinobu
AU - Kawahara, Masayuki
AU - Imai, Atsushi
AU - Ohyama, Chikara
AU - Usui, Takeshi
AU - Sasano, Hironobu
AU - Suda, Toshihiro
PY - 2008
Y1 - 2008
N2 - 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.
AB - 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.
KW - Adrenal incidentaloma
KW - Adrenocortical adenoma
KW - Congenital adrenal hyperplasia
KW - Nonclassical 21-hydroxylase deficiency
KW - Senescence
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U2 - 10.1507/endocrj.K07-119
DO - 10.1507/endocrj.K07-119
M3 - Article
C2 - 18323673
AN - SCOPUS:43449090716
VL - 55
SP - 291
EP - 297
JO - Endocrine Journal
JF - Endocrine Journal
SN - 0918-8959
IS - 2
ER -