Journal List > J Korean Endocr Soc > v.22(5) > 1003390

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Cho, Chueh, Kim, Jung, Yoo, Yoon, and Hwang: A Case of Congenital Adrenal Hyperplasia Combined with a Testicular Adrenal Rest Tumor and Adrenal Incidentaloma
Case Report
Journal of Korean Endocrine Society

Journal of Korean Endocrine Society 2007; 22(5): 365-370.

Published online: 20 October 2007

DOI: https://doi.org/10.3803/jkes.2007.22.5.365

A Case of Congenital Adrenal Hyperplasia Combined with a Testicular Adrenal Rest Tumor and Adrenal Incidentaloma

Gyu-Rang Cho, Hee-Won Chueh, Jung-Pyo Kim, Jin-A Jung, Jae-Ho Yoo, Sung-Kook Yoon1, Kyu-Geun Hwang

Department of Pediatrics, Dong-A University College of Medicine, Korea.

1Department of Diagnostic Radiology, Dong-A University College of Medicine, Korea.

Received 31 May 2007       Accepted 1 August 2007

Copyright © 2007 Korean Endocrine Society

Abstract

The fundamental defect among patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylse deficiency is the inability to synthesize cortisol and aldosterone adequately. Ineffective cortisol synthesis signals the hypothalamus and pituitary to increase the production of corticotropin releasing hormone and adrenocorticotropic hormone, respectively. Consequently, the adrenal glands become hyperplastic. It is well known that an adrenal adenoma can develop from hyperplastic tissue under increased corticotropin stimulation of the adrenal cortex in patients that are suffering with CAH. The etiologic mechanism of adrenal incidentaloma remains uncertain, but several hypotheses have been suggested. A testicular adrenal rest tumor has been reported to form in association with the excessive secretion of adrenal androgen by inadequate control after adolescence in CAH. We present a case of poorly controlled salt-losing CAH due to 21-hydroxylase deficiency combined with a testicular adrenal rest tumor and adrenal incidentaloma.

Keywords: Adrenal incidentaloma, Congenital adrenal hyperplasia, Testicular adrenal rest tumor

Figures and Tables

Fig. 1
Serial levels of 17-OHP. After detecting testicular adrenal rest tumor and adrenal incidnetaloma, the patient's drug compliance improved and serum 17-OHP levels was well controlled. Dotted line shows reference ranges (0.45~3.5 ng/mL).
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Fig. 2
Gene study of 21-hydroxylase deficiency. By allele specific PCR-sequencing method, the case shows the fusion of the 5' CYP21A2 (active gene) and 3' CYP21A1 (pseudogene). There is a complete defect to amplify no active gene at all.
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Fig. 3
Image of testicular ultrasonography. Longitudinal sonogram of the right testis shows a 1.2 × 1.6 cm sized poorly defined intratesticular mass with variable echogenicity (A). Longitudinal sonogram of the left testis shows a 0.7 × 0.8 cm sized poorly defined heterogeneous hypoechoic intratesticular mass (B).
jkes-22-365-g003
Fig. 4
Image of adrenal computed tomography. The transverse view (A) and coronal view (B) of contrast material enhanced CT scan demonstrate a 2.7 × 3.5 cm sized left adrenal incidentaloma, which is well defined ovoid enhancing mass with multiple cystic areas.
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