Late-diagnosed Nonclassical 21-hydroxylase Deficiency in Two Elderly Men with Adrenal Incidentalomas: Clinical Clues to the Underlying Diagnosis
Abstract
Nonclassical 21-hydroxylase deficiency (21-OHD) is a mild form of congenital adrenal hyperplasia (CAH) that may remain unrecognized until adulthood. We herein report two elderly men with undiagnosed nonclassical 21-OHD and different adrenal morphologies. Case 1 had a large unilateral adrenal tumor, and an inadequate residual adrenal function became apparent after adrenalectomy, while Case 2 showed bilateral adrenal enlargement. Both patients had a short stature. Because newborn screening for CAH has been available in Japan for less than 40 years, an evaluation of adrenal insufficiency, in addition to hormonal excess, may help to identify latent 21-OHD, thereby allowing for the administration of appropriate management in elderly men with adrenal incidentalomas.
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BibTeX
@article{nezu2026latediagnosed,
title = {{Late-diagnosed Nonclassical 21-hydroxylase Deficiency in Two Elderly Men with Adrenal Incidentalomas: Clinical Clues to the Underlying Diagnosis}},
author = {Masahiro Nezu and Yuto Yamazaki and Kazumasa Tanaka and Reo Ishii and Yuki Hosaka and Jun Toyama and Soichi Takizawa and Toshio Oyama and Masaharu Inoue and Hironobu Sasano},
journal = {Internal Medicine},
year = {2026},
month = jul,
doi = {10.2169/internalmedicine.7667-26},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7667-26/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Late-diagnosed Nonclassical 21-hydroxylase Deficiency in Two Elderly Men with Adrenal Incidentalomas: Clinical Clues to the Underlying Diagnosis
AU - Masahiro Nezu
AU - Yuto Yamazaki
AU - Kazumasa Tanaka
AU - Reo Ishii
AU - Yuki Hosaka
AU - Jun Toyama
AU - Soichi Takizawa
AU - Toshio Oyama
AU - Masaharu Inoue
AU - Hironobu Sasano
PY - 2026
DA - 2026/07/04
JO - Internal Medicine
DO - 10.2169/internalmedicine.7667-26
UR - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7667-26/_article
AB - Nonclassical 21-hydroxylase deficiency (21-OHD) is a mild form of congenital adrenal hyperplasia (CAH) that may remain unrecognized until adulthood. We herein report two elderly men with undiagnosed nonclassical 21-OHD and different adrenal morphologies. Case 1 had a large unilateral adrenal tumor, and an inadequate residual adrenal function became apparent after adrenalectomy, while Case 2 showed bilateral adrenal enlargement. Both patients had a short stature. Because newborn screening for CAH has been available in Japan for less than 40 years, an evaluation of adrenal insufficiency, in addition to hormonal excess, may help to identify latent 21-OHD, thereby allowing for the administration of appropriate management in elderly men with adrenal incidentalomas.
SN - 1349-7235
SN - 0918-2918
ER -