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Pelvis » Scrotum And Testicles
Congenital Adrenal Hyperplasia
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Presentation 42 year old male presented with enlargement of both testicles
 
 
 
Caption: Right testicle sagittal
Description: 
 
 
 
Caption: Right testicle, sagittal, slightly different plane
Description: Size is upper normal and shape roughly normal, but internal structure is highly heterogenous and suggestion of nodular formations
 
 
 
Caption: Left testicle, transverse
Description: 
 
 
 
Caption: Left testicle, sagittal
Description: The left testicle also exhibits roughly normal size and shape, but a highly heteregeneous internal echo pattern.
 
 
 
Caption: Sagittal, right lobe of liver.
Description: A rounded mass appears posterior to the right lobe of the liver and superior to the upper pole of the right kidney.
 
 
 
Caption: Sagittal left upper quadrant
Description: Another rounded mass is seen
 
 
 
Caption: MRI T1 AXIAL
Description: 
 
 
 
Caption: MRI T2 SPAIR
Description: Normal testicular structure replaced by nodules of variably signal consistent with adrenal remains
 
 
 
Caption: MRI T2 CORONAL
Description: 
 
 
 
Caption: MRI T1 IN FASE
Description: 
 
 
 
Caption: MRI, transverse
Description: 
 
 
 
Caption: MRI T1 OUT  FASE
Description: Enlargement and deformation of both suprarenal glands with homogeneous signal.
 
Differential Diagnosis Adrenal adenoma
Adrenal metastases and lymphoma

Adrenal hemorraghe

Pheochromocytoma

Congenital adrenal hyperplasia
 
Final Diagnosis Congenital adrenal hyperplasia
 
Discussion Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. The most frequent is steroid 21-hydroxylase deficiency, accounting for more than 90 percent of cases

As a result, the adrenal cortex is stimulated by corticotrophin and overproduces cortisol precursors. Some of these precursors are diverted to the biosynthesis of sex hormones, which may cause signs of androgen excess, including ambiguous genitalia in newborn girls and rapid postnatal growth in both sexes. Concomitant aldosterone deficiency may lead to salt wasting with consequent failure to thrive, hypovolemia, and shock. Congenital adrenal hyperplasia is seen in three forms: classic(neonatal) with or without salt wasting, late onset and asymptomatic.  Classic 21-hydroxylase deficiency is characterized by markedly elevated serum levels of 17-hydroxyprogesterone, the main substrate for the enzyme.

Ectopic adrenal rest tissue may be seen at several sites throughout the body including the celiac plexus region, broad ligaments and normal fetal ovaries. Careful microscopic examination suggest that adrenal rest cells are present in the testicles of all male patients with congenital adrenal hyperplasia. Some patients with unrecognized or poorly controlled congenital adrenal hyperplasia present testicular masses consisting of adrenal rest tissue. Both MRI and sonography detect and display masses composed of testicular adrenal rest tissue equally well, the value is defining the extent, size and follow up.

Imaging characteristics that support the diagnosis include peripheral location which is often in the area of mediatinum testis, absence of distortion of the testicular contour, and bilaterality.

Recognizing adrenal rest tissue is important because the appropriated treatment is glucocorticoid therapy.

 
Case References

Testicular adrenal rest tissue in congenital adrenal hyperplasia: findings at Gray-scale and color Doppler US. , , , , ,    Radiology, 1996, Vol.198: 99-104, 10.1148/radiology.198.1.8539414

Congenital Adrenal Hyperplasia. Phyllis W. Speiser, M.D., and Perrin C. White, M.D.. N Engl J Med 2003; 349:776-788 August 21, 2003 DOI: 10.1056/NEJMra021561

 
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