BILATERAL TESTICULAR ADRENAL RESTS AFTER BILATERAL
ADRENALECTOMIES IN A CUSHINGOID PATIENT WITH
VON HIPPEL-LINDAU DISEASE
D. CHAMP WEEKS, M
C
CLELLAN M. WALTHER, CONSTANTINE A. STRATAKIS,
JONATHAN J. HWANG, W. MARSTON LINEHAN,
AND
JOHN L. PHILLIPS
ABSTRACT
We report a case of bilateral testicular masses in a 25-year-old man with von Hippel-Lindau disease
presenting with cushingoid symptoms. His medical history was significant for bilateral adrenalectomies
secondary to pheochromocytomas, and he began steroid therapy at that time. After exhaustive endocrino-
logic, radiographic, and physical examinations, the testicular masses were postulated to be active adrenal
rest tissue. Bilateral testicular venous sampling found elevated glucocorticoids that were responsive to
dexamethasone suppression, which confirmed the testicular masses as testicular adrenal rests without the
need for surgical intervention. Successful conservative management consisted of appropriate steroid ma-
nipulation and radiographic evaluation and resulted in the resolution of presenting symptoms, a decrease in
size of the bilateral testicular masses, and testicular conservation in this young man.
UROLOGY
63:
981.e13–981.e14, 2004. © 2004 Elsevier Inc.
T
esticular adrenal rests might pose a diagnostic
challenge in a patient with Cushing’s syn-
drome after bilateral adrenalectomy. We report a
case of bilateral testicular adrenal rests diagnosed
and managed conservatively in a patient with von
Hippel-Lindau disease (VHL).
CASE REPORT
A 25-year-old man with VHL (germline
guanosine to thymidine [missense] mutation at
VHL nucleotide 657) presented to our clinical cen-
ter 13 years after bilateral adrenalectomy for pheo-
chromocytomas. He had not been initially compli-
ant with oral adrenal steroid replacement and had
developed salt craving, skin pigmentation, and ep-
isodes of abdominal pain. Aggressive endocrino-
logic intervention restored hormonal homeostasis
by the age of 20. The patient eventually reported
bilateral testicular masses, although he denied pain
or sexual dysfunction. On physical examination,
the patient had palpable, nontender bilateral testic-
ular masses. A testicular ultrasound demonstrated
bilateral superoposterior hypoechoic lesions (Fig.
1), which were brightly enhanced with T1-
weighted magnetic resonance imaging (Fig. 2).
Levels of human chorionic gonadotropin, alpha-
fetoprotein, thyroid-stimulating hormone, and fol-
licle-stimulating hormone/luteinizing hormone
were within normal limits. Laboratory evaluation
in the absence of oral hydrocortisone revealed a
very low morning free cortisol (F) level of 2.8
g/
dL, whereas the patient’s morning adrenocortico-
tropic hormone (ACTH) level was elevated at 341
pg/mL. An ovine corticotropin-releasing hormone
test showed lack of significant F response (peak F
of 3.5
g/dL), despite significant ACTH response
(peak ACTH of 1090 pg/mL). A Liddle’s dexameth-
asone (DEX) test suppressed cortisol production,
thus demonstrating non-pituitary-dependent
Cushing’s syndrome. Iodocholesterol scintigraphy
showed an increase in uptake of contrast by the
testicular masses bilaterally that was suppressed
with DEX (data not shown). Testicular venous
sampling confirmed the testicular origin of the cor-
tisol production. After ACTH suppression, left and
right testicular vein cortisol increased from 9.3 to
126.4
g/dL and from 8.9 to 82.8
g/dL, respec-
tively. Serum cortisol levels remained stable at 9.2
From the Urologic Oncology Branch, National Cancer Institute,
and Unit on Genetics and Endocrinology, Developmental Endo-
crinology Branch, National Institute of Child Health and Human
Development, National Institutes of Health, Bethesda, Maryland
Address for correspondence: D. Champ Weeks, M.D., 3212
Landover Street, Alexandria, VA 22305
Submitted: September 11, 2003, accepted (with revisions):
January 14, 2004
CASE REPORT
© 2004 E
LSEVIER
I
NC
. 0090-4295/04/$30.00
ALL RIGHTS RESERVED
doi:10.1016/j.urology.2004.01.023 981.e13