J Korean Endocr Soc.  2007 Oct;22(5):365-370. 10.3803/jkes.2007.22.5.365.

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

• Cho GR
• Chueh HW
• Kim JP
• Jung JA
• Yoo JH
• Yoon SK
• Hwang KG

• KMID: 1523107
• DOI: http://doi.org/10.3803/jkes.2007.22.5.365

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.

Keyword

Adrenal incidentaloma; Congenital adrenal hyperplasia; Testicular adrenal rest tumor

MeSH Terms

Adenoma
Adolescent
Adrenal Cortex
Adrenal Glands
Adrenal Hyperplasia, Congenital*
Adrenal Rest Tumor*
Adrenocorticotropic Hormone
Aldosterone
Corticotropin-Releasing Hormone
Humans
Hydrocortisone
Hypothalamus
Steroid 21-Hydroxylase
Adrenocorticotropic Hormone
Aldosterone
Corticotropin-Releasing Hormone
Hydrocortisone
Steroid 21-Hydroxylase

Figure

• 

  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).

• 

  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.

• 

  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).

• 

  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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