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363
Pictorial .;‘
,
.
Congenital John
Gambino,1
#{149}#{149}I#{149}
‘
#{149}
Disorders Brooke
A broad spectrum exist at birth. These
:
CaldweII,1
of Sexual
Rosalind
Dietrich,1
.
Walot,1
and Hooshang
may
Complete
include male and female pseudohermaphroditism, gonadal dysgenesis, and true hermaphroditism. When ambiguous genitalia are present, expedient identification of the anomaly is required for proper gender assignment and appropnate surgical or hormonal correction. As the appearance of the external genitalia often is not distinctive enough to make a spacific diagnosis, this must be accomplished by clinical findings along with a combination of cytogenetic, biochemical, and radiologic studies. Because the causes of abnormal sexual differentiation are diverse and often exhibit incomplete expression, they produce much anatomic variability. Sonographic and radiographic studies are often used initially to evaluate such conditions. The noninvasive multiplanar nature of MA imaging makes it a useful alternative method with which to characterize the abnormal anatomy in this group of disorders, as we illustrate in this pictorial essay.
an X-linked
Male
of anomalies
of sexual
differentiation
feminized, roditism
Kangarloo2
androgen
insensitivity
recessive
disorder
of internal
female
genital
tract
feminization)
is
of cyto-
be maldescended [3]. Multiplanar MR images
and demonstrate
and
2000/56)
[4], gonadal characterization
high
analysis.
intensity It is
T2-weighted
genitalia.
frequently
location
as,
of incomplete
masculinized.
images
the
development
show an outer rim of medium-intensity
1), which helps distinguish them It is noteworthy that testicular
variety
forms
In one form,
levels are normal.
from lymph feminization
where cytoplasmic
Defective
July 1 , 1991 ; accepted after revision August 26, 1991. Presented at the annual meeting of the American Roentgen Ray Society, Boston, MA, May 1991. I Department of RadiolOgiCal Sciences, University of California, Irvine, Medical Center, 101 City Dr., Orange,
1
(e.g.,
requires
his-
gonads,
as
of gonadal
images are helpful in defining on these sequences, gonads
MR
of gonads,
(Figs.
ovaries have (e.g., 500/28
ultimately
to locate
to prevent
of a uterus
testes
T2-weighted
important
neoplasms.
the
on
which may
the absence
or inguinal
[TR/TE])
Male pseudohermaphrodites all possess testes yet exhibit incomplete virilization of the genital ducts and/or external defect.
will confirm
and noncystic, immature on Ti -weighted images
is performed
Causes of male pseudohermaphroditism include inability of the testes to respond to gonadotropins, congenital errors of testosterone biosynthesis, failure of target tissues to convert testosterone to dihydrotestosterone, and insensitivity of target tissues to androgens [1].
factor by the testes,
intraabdominal
and 2). As both testes medium signal intensity
pseudohermaph[i ]. The absence reflects the synthesis
structures
of active mUllerian regression
orchiectomy
on the underlying
(testicular
in which the absence
in the other forms of male degrees of virilization occur
while various
tologic
depend
MR Findings
plasmic testosterone receptors prevents specific gene activation and subsequent differentiation of the external genitalia [2]. In this disorder, the external genitalia are completely
Pseudohermaphroditism
The MA findings
.
Differentiation:
Irwin
Essay
the genitalia testosterone
transcription
signal (Fig.
nodes. also exists
in a
are partially receptor
or posttranscrip-
Received
Dietrich. 2 Department AJR 158:363-367,
of Radiological February
Sciences, University
of California,
1992 0361-803X/92/1582-0363
Los Angeles,
C American
School
Roentgen
of Medicine,
Ray Society
Los Angeles,
CA 92668-3298. CA 90024.
Address reprint requests
to A.
364
GAMBINO
ET AL.
AJR:158,
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r
February 1992
.-
Fig. 1.-Male
pseudohermaphroditism resulting from complete androgen insensitivity in an adolescent with characteristic female external genitalia, uterus, and ingulnal gonads that histologically proved to be testes. A, Coronal MR image (SE 500/28) shows absence of uterus and vagina. This was verified by evaluation of sequential thin MR sections in two planes. B and C, Axial MR images (SE 2000/56) show bilateral inguinal testes (arrows). Note rim of medium signal intensity around gonads.
absent
A Fig. 2.-Complete descent
androgen
who had undescended
insensitivity abdominal
In adtestes
before gonadectomy and a feminized perineum that contained a blind vaginal pouch. Coronal MR Image (SE 499/28) shows bilateral abdominal testes (arrows) and absence of a uterus.
B
Fig. 3.-Female pseudohermaphrodltism caused by congenital adrenal hyperplasia in an 8-yearold girl. Internal genital ducts are female while external genitalia are masculinized. A and B, Sagittal SE 500/28 (A) and axial SE 800/28 (B) MR images show marked clitoromegaly and a rudimentary uterus (arrow).
modification of androgen-regulated loci has been implicated as the responsible mechanism [2].
extent of masculinization is determined by the time and degree of androgen exposure. Exposure before the 12th week
Female
of gestation leads to ambiguous genitalia, whereas later exposure leads to clitoromegaly [2]. Primordia for male internal genital structures, the mesonephric ducts, do not differentiate
tional
Pseudohermaphroditism
because
they require
Female pseudohermaphrodites are 46,XX genetic females with normal ovaries who are exposed to androgens in utero and undergo vinlization of their external genital primordium. The most common cause is congenital adrenal hyperplasia
genic
resulting
gen-producing
from
21 -hydroxylase
causes salt wasting virilization
from
deficiency
due to diminished
an excess
(Figs.
3 and 4). This
mineralocorticoids
of androgenic
sex
steroids.
and The
stimulation
maphroditism
[2]. include
local, as opposed Unusual
causes
maternal
drug
thetic progestins with androgen in addition to the rare presence On MA strate
to systemic, of female
ingestion
andro-
pseudoher(notably
syn-
activity) in the first trimester, of adrenal or ovarian andro-
tumors.
studies,
masculinized
female external
pseudohermaphrodites genitalia
with
normal
demonovaries,
AJR:158,
February
Fig. 4.-Congenital ing from
female
DISORDERS
1992
adrenal
21-hydroxylase pseudohermaphrodite.
hyperplasia
OF SEXUAL
DIFFERENTIATION
365
resuit-
deficiency In a neonate Incidentally noted
was a fluid-containing urachus and hydrometrocolpos. A, Sagittal MR Image (SE 2000/30) shows cli-
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toromegaly (arrow). B, Parasagittal MR image (SE 2000/80)
shows bladder (B); urachus (Ur); fluid-filled, distended uterus (U); and vagina (V). C and D, Axial MR Images (SE 2500/80) show fluid-filled vagina (V) posterior to bladder (B) and merging of vagina and urethra (arrow).
Fig. 5.-Turner syndrome In a 45,X 16-year-old girl with a hypoplastic uterus, streak ovaries, and female external genitalia. A and B, Sagittal SE 500/30 (A) and axial 700/ 30 (B) MR Images show bilateral streak ovaries (arrows) In association with a rudimentary uterus and cervix (arrowhead). Streak ovaries may be difficult to appreciate even with thin-section technlques.
fallopian tubes, and uterus. Thin, contiguous multiplanar sections (3 mm or less) through the pelvis confirm the presence of an immature uterus. Occasionally, unassociated anomalies such as a patent urachus or an obstructed distended vagina and uterus are seen (Fig.4).
Gonadal
Gonadal organization
Dysgenesis
dysgenesis
is characterized
and function.
7) refers to individuals
Pure gonadal
with bilateral
by abnormal dysgenesis
dysfunctional
gonadal (Figs.
gonads.
5-
On
366
GAMBINO
ET AL.
AJR:158,
Fig. 6.-45,X/45,XY mosaic Turner syndrome and bilateral
February
1992
with features of gonadal dysgene-
515 resulting in neoplasms. A and B, Coronal SE 500/28 (A) and SE 2000/ 84 (B) MR images show abnormal right adnexal
mass. Left gonad is also abnormal because streak
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gonad should not exhibit such high signal on T2weighted Images. Bilateral gonadoblastoma (arrows) was found at laparotomy.
Fig. 7.-46,XY
gonadal dysgenesis in a 17patient. Bilateral inguinal dysgenetic testes did not produce mUllerian regression factor, so internal female genital ducts developed. The patient had partially virilized external genitalia at birth and was raised as a female. At age 12, phallus enlargement occurred. A and B, Midsagittal(A)and parasagittal(B) MR year-old
images (SE 600/20) and unicomuate
uterus
show a phallus, vagina (V), (U).
SE 800/30 (C) and SE 3700/30 (D) MR images show bilateral, high inguinal testes (arrows) and a uterus (U). Uterus lacks normal C and D, Axial
myometrial and endometrial definition, reflecting lack of estrogen and progesterone. Patient subsequentiy had gonadectomy and phallus reduc-
MR imaging, the dysgenetic gonads may show a spectrum of appearances ranging from normal size to bilateral streak. The clinical manifestations are variable, depending on chromosome composition and gene expression. In mixed gonadal
dysgenesis (Fig. 8), a testis is present along with a histologically abnormal or streak gonad. Sex chromosome karyotypes are usually mosaic (XO/XY, XO/XYY), although XY conditions with an aberrant V chromosome occur. The risk of developing
AJA:158,
DISORDERS
February 1992
Fig. 8.-Mixed
gonadal
dysgenesis
OF SEXUAL
367
DIFFERENTIATION
in a 46,XY/
46,XO
mosaic infant Normal testis is present in association with a dysgenetic gonad. Female genital ducts are absent if mUllerian regression factor Is produced. Appearance of external genitalia may
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vary. A, Photograph shows ambiguous external genitalla. B, Sagittal MR image (SE 500/28) shows absence of a vagina and uterus. C, Axial MR Image (SE 500/28) shows a testis (arrow) In left ingulnal region. D, At gonadectomy, histologically aberrant left pelvic gonad (G) was found in association with right testis (1), which crossed midline and was
lying In left inguinal canal.
gonadal neoplasms (dysgerminoma and gonadoblastoma) is increased (approximately 25%) in dysgenetic gonads containing V chromosomes [2]. Therefore, chromosome analysis and removal of streak gonads is recommended. Prior to laparotomy, MA may be useful in identifying the location of dysgenetic gonads and characterizing the internal genitalia. In Turner syndrome, 45,XO individuals are sterile and possess bilateral streak ovaries that produce inadequate estrogen (Fig. 5). The external genitalia are female, but remain infantile
at puberty.
Patients
with
XO/XY
dysgenetic
gonads
possess bilateral aberrant gonads and may have features of Turner syndrome [2]. They must be recognized because of the risk of gonadal neoplasms developing (Fig. 6). In 46,XY gonadal dysgenesis (Fig. 7), there is failure of testicular differentiation with aberrant gonads and female external genitalia. Female genital ducts are usually present, in contrast to complete androgen insensitivity. Incomplete forms with partial masculinization exist owing to varying extents of testicular differentiation with associated residual ability to produce testosterone or mUllerian regression factor.
True
Hermaphroditism
True
hermaphrodites
have
both
ovarian
and testicular
tis-
sue that may exist in separate gonads or in the same gonad (ovotestes). The karyotypic distribution is approximately 80%, 46,XX, 1 0% XV, and 10% mosaics [2]. Ovaries are intraabdominal,
while testes
The external
tion of the internal
arotomy again
or ovotestes
genitalia
and external
and histologic
because
of the
may exhibit
are frequently
genitalia
evaluation increased
rate
cryptorchidism.
ambiguous. varies
Differentiagreatly.
Lap-
of gonads
are required,
of gonadal
neoplasms.
REFERENCES 1 . Allen TD. Disorders ofsexualdifferentiation. In: Kelalis PP, King LA, Belman AB, eds. Clinicalpediatric urology. Philadelphia: Saunders, 1985:904-921
2. Saenger P. Abnormal 3. Langman 1981
J. Medical
sex differentiation. J Pediatr 1984;104: 1-16 embryology, 4th ed. Baltimore: Williams & Wilkins,
4. Hricak H, Chang V. The female Magnetic 433-467
resonance
imaging
pelvis. In: Higgins CB. Hricak H, eds. body. New York: Raven, 1987:
of the