A male case of nonclassical 21-hydroxylase deficiency first manifested in his sixties with adrenocortical incidentaloma.
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.
Nigawara
Takeshi
T
Department of Endocrinology and Metabolism, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
Kageyama
Kazunori
K
Sakihara
Satoru
S
Takayasu
Shinobu
S
Kawahara
Masayuki
M
Imai
Atsushi
A
Ohyama
Chikara
C
Usui
Takeshi
T
Sasano
Hironobu
H
Suda
Toshihiro
T
D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000302:Adrenal Cortex / Q000378:metabolism / Q000473:pathology; D000306:Adrenal Cortex Neoplasms / Q000175:diagnosis* / Q000201:enzymology / Q000601:surgery; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000201:enzymology; D018246:Adrenocortical Adenoma / Q000175:diagnosis* / Q000201:enzymology / Q000601:surgery; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000368:Aged; D006801:Humans; D033162:Incidental Findings; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase