Diagnostics

The physical examination reveals only a small proportion of all testicular tumors in CAH, depending on their size. For more accurate detection of these tumors, imaging techniques, such as ultrasound and magnetic resonance imaging (MRI), are required (3,5,6,9,17,18). A comparative study in males with CAH concluded that ultrasound is the method of choice, because it is as sensitive as MRI and more accessible (19). Reports of ultrasound features show a similar picture of hypoechoic lesions adjacent to the mediastinum testis, often lobulated and mostly bilateral (see Fig. 2) (9,18-25). In larger tumors, we have observed hyperechoic reflections (25a). Tumor margins may be blurred on ultrasound but are always well defined on MRI (19,26). On MRI, most of the masses are isointense on T1-weighted images and hypointense on T2-weighted images, as are adrenal glands (19).

Adrenal Rest Tissue Ultrasound

Fig. 2. (A) Small adrenal rest tumors in a 17.9-yr-old male patient with 21-hydroxylase deficiency. (A) Longitudinal ultrasonographic image of the left testis in the plane of the mediastinum showing three small well-delineated conflating tumors (arrows). The tumors are hypoechoic compared to the normal testicular tissue. Their maximal lengths were 0.4, 0.3, and 0.2 cm, respectively. (B) Ultrasonographic image obtained in the transverse plane. Note that the tumors are located around the mediastinum, which is visible as a small white line (curved arrow). (C) Large palpable adrenal rest tumor in a 17.3-yr-old male patient with 21-hydroxylase deficiency. Longitudinal ultrasonographic image of the left testis showing a well-delineated mass with marked irregular echo texture (arrows). Note that only a small rim of normal testicular tissue is visible (asterisks). (D) Ultrasonographic image obtained in the transverse plane. The tumor measured 3.8 X 3.8 X 2.0 cm. (Reproduced with permission from ref. 6.)

Fig. 2. (A) Small adrenal rest tumors in a 17.9-yr-old male patient with 21-hydroxylase deficiency. (A) Longitudinal ultrasonographic image of the left testis in the plane of the mediastinum showing three small well-delineated conflating tumors (arrows). The tumors are hypoechoic compared to the normal testicular tissue. Their maximal lengths were 0.4, 0.3, and 0.2 cm, respectively. (B) Ultrasonographic image obtained in the transverse plane. Note that the tumors are located around the mediastinum, which is visible as a small white line (curved arrow). (C) Large palpable adrenal rest tumor in a 17.3-yr-old male patient with 21-hydroxylase deficiency. Longitudinal ultrasonographic image of the left testis showing a well-delineated mass with marked irregular echo texture (arrows). Note that only a small rim of normal testicular tissue is visible (asterisks). (D) Ultrasonographic image obtained in the transverse plane. The tumor measured 3.8 X 3.8 X 2.0 cm. (Reproduced with permission from ref. 6.)

Testicular tumors in CAH may resemble malignant testicular tumors on ultrasonography and MRI (24,27). However, characteristics such as the bilateral presence of lesions and the location of the lesions adjacent to the mediastinum are helpful in differentiating between a testicular tumor in CAH and a malignant testicular lesion (21,26,28). On the other hand, the ultrasound characteristics of a testicular tumor can suggest the diagnosis CAH in males with previously undiagnosed CAH who present with a testicular mass (28). In that case, elevated 17-hydroxyprogesterone levels may indicate 21-hydroxylase deficiency. However, 17-hydroxyprogesterone production by a Leydig cell tumor (LCT) in a patient without CAH has also been reported once (29).

Adrenal Rest Tissue

Fig. 3. (A) Light micrograph (original magnification X130) showing hyperplastic nodular adrenal rest tissue (AT) and the adjacent area with few atrophic seminiferous tubules (ST) that contains Sertoli cells and a few spermatogonia and early spermatocytes. (B) Light micrograph (original magnification X350) showing confluent polygonal eosinophilic cells of uniform appearance, with interspersed bands of connective tissue stroma. (C) Electron micrograph (original magnification X6000) showing ultrastructural detail of representative cell from the adenomatous adrenal rest demonstrating abundant smooth endoplasmic reticulum (SER), mitochondria with tubular cristae (MITO), and nucleus (NUC) with dense heterochromatin and prominent nucleolus. (Reproduced with permission from ref. 38.)

Fig. 3. (A) Light micrograph (original magnification X130) showing hyperplastic nodular adrenal rest tissue (AT) and the adjacent area with few atrophic seminiferous tubules (ST) that contains Sertoli cells and a few spermatogonia and early spermatocytes. (B) Light micrograph (original magnification X350) showing confluent polygonal eosinophilic cells of uniform appearance, with interspersed bands of connective tissue stroma. (C) Electron micrograph (original magnification X6000) showing ultrastructural detail of representative cell from the adenomatous adrenal rest demonstrating abundant smooth endoplasmic reticulum (SER), mitochondria with tubular cristae (MITO), and nucleus (NUC) with dense heterochromatin and prominent nucleolus. (Reproduced with permission from ref. 38.)

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