AJR 2002; 178:1496-1498
© American Roentgen Ray Society
Stromal Tumor of the Sex Cord in a Woman with Testicular Feminization Syndrome: Imaging Features
Nevzat Karabulut1,
Aysun Karabulut2,
Emre Pakdemirli1,
Nuran Sabir1,
Seyide Kara Soysal3 and
M. Emin Soysal3
1 Department of Radiology, Pamukkale University Hospital, 20010 Denizli,
Turkey.
2 Clinic of Obstetrics and Gynecology, Denizli State Hospital, 20010 Denizli,
Turkey.
3 Department of Obstetrics and Gynecology, Pamukkale University Hospital, 20010
Denizli, Turkey.
Received May 29, 2001;
accepted after revision August 21, 2001.
Address correspondence to N. Karabulut.
Introduction
Testicular feminization is a form of male pseudohermaphroditism that is
inherited as a sex-linked recessive disorder. It is characterized by androgen
insensitivity resulting from an absence or qualitative abnormality of the
cytosol receptor for androgens
[1]. Despite having a male
genotype, most patients with testicular feminization (androgen insensitivity)
syndrome are asymptomatic and function as normal, although sterile, females.
Undescended testes have a well-recognized propensity for tumoral
proliferation, and the risk of gonadal malignancies increases with age
[2]. Although the diagnosis of
androgen insensitivity syndrome is based primarily on clinical features,
imaging modalities may provide complementary findings. Nevertheless, the
imaging findings in patients with testicular feminization syndrome have been
poorly documented. We describe the imaging features in a 54-year-old patient
with testicular feminization syndrome in whom a stromal tumor of the sex cord
developed within an intraabdominal testis. To our knowledge, this case is the
first to be reported with CT and MR imaging documentation.
Case Report
A 54-year-old patient who was phenotypically a woman presented with lower
abdominal pain and constipation. The patient had been amenorrheic for her
entire life. The physical examination revealed normal breast development and
external genitalia, although pubic and axillary hair was sparse. She had a
huge mass in the lower abdomen, and a smaller one was palpated in the right
inguinal region. The diameter and depth of the vagina were normal, but no
cervix or uterus was noted.
Sonography revealed a heterogeneous abdominopelvic mass with solid and
cystic components in the midline and left lower quadrant, measuring 15 x
14 x 12 cm. Color Doppler sonography revealed the mass to be
hypovascular (Fig. 1A). CT
revealed a huge mass of heterogeneous density with well-circumscribed and
somewhat lobulated borders situated in the lower abdomen between the aortic
bifurcation and supravesical region (Fig.
1B). The mass had multiloculated hypodense areas centrally,
separated by thick septa and surrounded by a thick rim of an enhancing outer
wall. Enhancing solid nodules were present and were most prominent
anterolaterally on the left.
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Fig. 1A. —54-year-old woman with testicular feminization syndrome and
abdominal mass. Transabdominal color Doppler sonogram reveals hypovascular,
mixed solid and cystic mass anterior to left iliac vein. Note low-impedance
blood flow on spectral analysis.
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Fig. 1B. —54-year-old woman with testicular feminization syndrome and
abdominal mass. Contrast-enhanced CT scan obtained through pelvis shows
well-delineated heterogeneous mass with lobulated borders conforming to
surrounding anatomy. Note cystic spaces centrally and contrast-enhanced solid
components left anterolerally. Also note contrast enhancement in capsule and
septa as well as absence of uterus.
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MR imaging revealed a well-encapsulated mass of heterogeneous intensity in
the supravesical region. On fat-suppressed T1-weighted images, the lesion was
primarily of low signal intensity with scattered areas of high intensity
consistent with subacute hemorrhage. On T2-weighted images, the mass
predominantly had high signal intensity, but the outer wall, septa, and some
of the solid nodular components had low signal intensity
(Fig. 1C). The solid
components, septa, and outer wall exhibited intense enhancement after the IV
administration of gadolinium (Fig.
1D). The mass was in close contact with the sigmoid colon, bladder
dome, and left iliac vessels, but no evidence indicated organ or vascular
invasion, lymphadenopathy, or distant metastasis. The cervix and uterus were
absent on all imaging modalities. An oval mass in the right inguinal
canal—representing the right testis—was seen. Subsequent
cytogenetic analysis confirmed 46, XY karyotype.
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Fig. 1C. —54-year-old woman with testicular feminization syndrome and
abdominal mass. Sagittal T2-weighted MR image (TR/TE, 1800/100) obtained
through midline shows heterogeneous hyperintense mass with hypointense capsule
and septa. No uterus is visualized between rectum and bladder.
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Fig. 1D. —54-year-old woman with testicular feminization syndrome and
abdominal mass. Sagittal fat-suppressed T1-weighted MR image (525/14) obtained
through midline after IV administration of gadolinium shows contrast
enhancement to be most prominent at periphery of lesion. Enhancement is also
seen in septa and solid components.
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A solid 15-cm intraabdominal mass was removed at laparotomy. A dystrophic
right gonad was removed from the right inguinal canal. The absence of the
cervix, uterus, and fallopian tubes was confirmed at laparotomy. Macroscopic
examination revealed multilocular cysts containing heterogeneous purplish
brown material and homogeneous yellowish fluid in addition to solid areas of
grayish yellow. At microscopic examination, the tumor consisted of areas of
necrosis and hemorrhage surrounded by fibrous tissue. The final
histopathologic diagnosis was stromal tumor of the sex cord. The right gonad
was a small testicle consisting of immature seminiferous tubules surrounded by
a fibrous stroma containing nests of Leydig's cells.
Discussion
Testicular feminization, or androgen insensitivity, is a rare syndrome that
is characterized by primary amenorrhea; a 46, XY karyotype; female phenotype;
and the presence of testes rather than ovaries
[1,2,3].
Patients have a congenital resistance to the effects of androgens, which
results in an absence of wolffian duct derivatives and development of a female
phenotype. However, production of the müllerian inhibitory factor
persists, which accounts for the complete regression of the müllerian
duct system. Therefore, patients with testicular feminization have no uterus
or fallopian tubes and are without the upper third of the vagina. Despite
having a male genotype, most patients with testicular feminization are
asymptomatic and function as normal, although sterile, females. The disorder
is usually discovered during the perimenarchal stage when the individual fails
to menstruate. It is rarely diagnosed in patients older than 50 years
[4].
Although the diagnosis of testicular feminization syndrome is based
primarily on clinical findings, imaging findings may provide complementary
information. Sonography, CT, and MR imaging not only confirm the absence of
müllerian duct derivatives but also show the location of the undescended
testes, tissue characteristics of a potential neoplasm arising from the
gonads, and evidence of invasion or lymphadenopathy.
Our patient was 54 years old at time of the diagnosis of testicular
feminization syndrome. We were helped in our diagnosis by imaging techniques
that revealed a complete picture, consisting of the absent cervix and uterus
as well as an abdominopelvic mass that probably arose from the left
intraabdominal gonad. An oval mass in the right spermatic canal was thought to
represent the dystrophic undescended right testis with areas of fibrosis. The
constellation of these imaging findings was quite similar to the findings in a
man with bilateral cryptorchidism who developed a tumor in one gonad
[5]. Because our patient was
phenotypically a woman, the diagnosis of testicular feminization syndrome was
straightforward.
Orchidectomy is recommended to avoid malignant change within the
intraabdominal testis, but the surgery is usually deferred because such
malignancy is quite uncommon before puberty. Delaying surgery until after
puberty allows endogenous estrogen to engender secondary sex characteristics
in the patient [6]. The risk of
malignancy in testicular feminization is estimated to be 5%, and the
malignancy typically occurs at a later age than with other intersex disorders
[7]. However, the risk of
malignant transformation increases for patients older than 30 years, reaching
33% in patients older than 50 years
[6]. In a series of 43 patients
with testicular feminization, Rutgers and Scully
[2] reported four (9%)
malignant tumors (two seminomas, a germ cell neoplasm, and a malignant
sex-cord stromal tumor). Two (40%) of the five patients who were older than 50
years had malignant tumors. As is the case with cryptorchidism, most neoplasms
in patients with testicular feminization originate in the germ cells.
Although unequivocal neoplasms of the sex cords are rare, hamartomas
composed of sex cord cells are common in the testes of patients with
testicular feminization syndrome. In the study by Rutgers and Scully
[2], stromal tumors of the sex
cord were found in 10 (23%) of 43 patients. Ramaswamy et al.
[8] described a patient with
testicular feminization syndrome in whom a large multicystic tumor developed
and proved to be a sex cord tumor with annular tubules. Nevertheless, the
imaging features of a tumor that developed in an undescended testis have not
been emphasized in the literature.
Stromal tumors in otherwise normal testes and seminomas complicating
undescended intraabdominal testes in a man are usually well delineated without
evidence of hemorrhage or necrosis
[5]. However, the
intraabdominal mass in our patient harbored cystic areas that were consistent
with necrosis and focal areas with high signal intensity on both T1- and
T2-weighted MR images that were consistent with subacute hemorrhage. Unlike a
seminoma that developed in an undescended testis
[5], the mass in our patient
exhibited heterogeneity in both texture and contrast enhancement.
Similarities are found between the imaging examinations in patients with
testicular feminization syndrome and those with cryptorchidism. The presence
of a heterogeneous mass in the pelvis or abdomen of a phenotypic female
without a uterus and ovaries or a similar mass in a phenotypic male with
cryptorchidism should raise the possibility of a neoplasm generating from the
abnormally positioned gonad. These neoplasms may be either germ cell tumors or
sex-cord stromal tumors. Because the imaging features can be nonspecific and
because the potential for malignancy cannot be accurately assessed, surgical
excision is recommended, especially in older patients.
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Introduction
Case Report
