Paltiel 2014
Paltiel 2014
Paltiel 2014
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Harriet J. Paltiel, MD
This review presents the normal and pathologic develop-
Andrew Phelps, MD2
ment of the gonads and genitourinary tract and addresses
the role of ultrasonography in the diagnosis and manage-
ment of gynecologic disorders of the pediatric pelvis, in-
cluding ambiguous genitalia, prepubertal bleeding, pri-
mary amenorrhea, pelvic mass, and pelvic pain.
© RSNA, 2014
1
From the Department of Radiology, Boston Children’s
Hospital and Harvard Medical School, 300 Longwood Ave,
Boston, MA 02446. Received August 15, 2012; revision
requested September 10; revision received April 1, 2013;
accepted April 15; final version accepted June 6. Address
correspondence to H.J.P. (e-mail: harriet.paltiel@
childrens.harvard.edu).
2
Current address: Department of Radiology and
Biomedical Imaging, Benioff Children’s Hospital, University
of California, San Francisco.
q
RSNA, 2014
T
he most common indications for computed tomography (CT) and mag- the endometrial lining undergoes cycli-
imaging of the pelvis in girls in- netic resonance (MR) imaging are gen- cal changes associated with the men-
clude ambiguous genitalia, prepu- erally reserved for further characteriza- strual cycle (9).
bertal bleeding, primary amenorrhea, tion of congenital malformations or
pelvic mass, and pelvic pain. Ultrasonog- tumors (1–4).
raphy (US) is the main imaging modality Normal Development of the Gonads and
used in the investigation of these disor- Reproductive Tract
ders with cross-sectional modalities; Technique Development of the female reproduc-
The pediatric uterus, vagina, and ovaries tive tract involves cellular differentia-
are optimally imaged when the pa- tion, migration, fusion, and canalization
Essentials tient has a full bladder. All patients are with probable apoptosis (programmed
therefore asked not to void in the hour cell death). This complex and inte-
nn Anomalies of the reproductive
prior to undergoing imaging and are grated sequence of events is associated
tract may manifest at different
encouraged to drink fluids; teenagers with many opportunities for abnormal
stages of life; most abnormalities
are asked to drink 16 ounces. development and structural anomalies.
of the external genitalia are ob-
Transabdominal and linear-array US Anomalies of the reproductive tract
vious at birth, whereas obstruc-
transducers are generally adequate for may manifest at different stages of life.
tive and nonobstructive lesions
most pelvic US examinations. A trans- Most abnormalities of the external gen-
of the reproductive tract may
perineal approach is useful in young italia are obvious at birth, whereas ob-
be apparent at birth or only
girls with urogenital malformation, hy- structive and nonobstructive lesions of
later: during childhood, at pu-
drometrocolpos, labial mass, or anal the reproductive tract may be apparent
berty, in adolescence, or in
atresia (5) (Fig 1). In sexually active at birth or only later: during childhood,
adulthood.
adolescents, a transvaginal approach is at puberty, in adolescence, or in adult-
nn In patients with ambiguous geni- used to complement the transabdomi- hood (10).
talia, US is used to determine nal examination. In the setting of a
the location of the gonads and complex congenital anomaly, genitogra-
the presence of a uterus. phy performed with water-soluble con- Structural Anomalies of the
nn US is used to assess ovarian size trast material in conjunction with US is Reproductive Tract
and morphology and to confirm often helpful in identification and char- Reproductive tract anomalies may re-
or exclude a postpubertal ap- acterization of the vagina, urogenital sult from agenesis and/or hypoplasia or
pearance of the internal geni- sinus, or cloaca. abnormalities related to lateral fusion,
talia; US can be used to diagnose vertical fusion, or resorption. Although
an estrogen-secreting adrenal or various classifications of these anom-
Normal Anatomy alies have been proposed, each has its
ovarian tumor and to monitor
the effects of medical or surgical The size and shape of the uterus and limitations, and none is comprehensive.
treatment. ovaries are age dependent and subject to The American Society for Reproductive
nn Ovarian tumors in the pediatric hormonal influence. Maternal and pla- Medicine, or ASRM, system separates
population are usually benign, cental hormones result in a relatively the anomalies into groups with similar
with cystic teratoma accounting large size of the neonatal uterus (Fig 2) clinical manifestations and prognosis
for more than 90% of all benign and ovaries, compared with their size (Table 1, Fig E1 [online]). Vaginal
ovarian tumors; most cystic tera- later in infancy, where they remain rel- anomalies are not addressed. The Va-
tomas range from 5 to 10 cm in atively stable until the first growth spurt gina Cervix Uterus Adnexa–associated
diameter, have a complex ap- occurs at 7 to 8 years of age (6). Mature Malformations classification includes
pearance, and generally contain follicles may be documented within the abnormalities not found in the ASRM
fewer than 50% soft-tissue ele- ovary at all ages, owing to the secre- classification (Table 2).
ments by volume. tion of follicle-stimulating hormone (7,8)
(Fig 3). The prepubertal cervix is equal
nn In the setting of adnexal torsion,
to or greater in thickness than the uter-
the affected ovary is always
ine fundus, and the endometrial lining Published online
enlarged, with a median volume 10.1148/radiol.13121724 Content codes:
is relatively inconspicuous (Fig 4). Uter-
12 times that of the contralateral
ine length varies, on average, from 2.5 Radiology 2014; 270:644–657
normal ovary.
to 4 cm, with a thickness less than or
nn US is a critical tool in the evalua- equal to 1 cm. Prepubertal ovarian vol- Abbreviations:
tion of pelvic pain in girls, in- DSD = disorders of sex development
ume is slightly less than 1 cm3. During
cluding those suspected of having PCOS = polycystic ovarian syndrome
puberty, the uterine fundus elongates
acute appendicitis. and thickens and is larger than the cervix; Conflicts of interest are listed at the end of this article.
Figure 1 Table 1
Classification of Müllerian Anomalies
according to the American Society for
Reproductive Medicine System
Anomaly
Type Classification
1 Other
# Unknown
Figure 5 Figure 7
Ambiguous Genitalia
Although a child born with ambiguous
genitalia is a rare event, the potential
psychological damage to the patient
and his or her family that is caused by
a delayed or incorrect diagnosis war-
rants the need for some familiarity of
the underlying origins and the initial
Figure 9: Distal vaginal atresia in a 15-year-old girl with no vaginal orifice. (a) Sagittal US approach to diagnosis and management
image of the pelvis demonstrates a dilated uterus and upper vagina filled with blood and secre- on the part of healthcare providers.
tions. (b) Sagittal transperineal US image used to measure the distance (between calipers) from Any deviation from the normal appear-
the perineum to the obstructed, fluid-filled vagina. There is no vaginal tissue distal to the ance of the genitalia, such as labial fu-
obstruction. sion or clitoromegaly, should prompt
immediate investigation.
Table 3 In 2006, the Lawson Wilkins Pediat-
ric Endocrine Society and the European
DSD Definitions Society for Pediatric Endocrinology or-
Disorder Definition ganized an International Consensus
Conference on Intersex and published
Sex chromosome DSD 45,X and 46,XY mixed gonadal dysgenesis; 46,XX and a consensus statement proposing the
46,XY chimerism term disorders of sex development
46,XX DSD (chromosomally female) Defect in ovarian development; disorder leading to high levels (DSD) to indicate congenital conditions
of androgens (congenital adrenal hyperplasia most common);
with atypical development of chromo-
abnormality of müllerian ducts (dysgenesis or hypoplasia),
somal, gonadal, or anatomic sex (19).
uterus, or vagina
The DSDs are classified as sex
46,XY DSD (chromosomally male) Defect in testicular development; disorder of androgen synthesis
chromosome DSD (karyotype is not
or action; syndrome associated with defects in genital
development (cloacal anomaly, genetic syndrome, vanishing
the usual 46,XX or 46,XY); 46,XX
testis syndrome, congenital hypogonadotropic hypogonadism)
DSD (chromosomally female); and
46,XY DSD (chromosomally male)
(Table 3). Karyotyping, hormonal
analysis, and imaging evaluation are
obstructed septate uterus, or a rudimen- formed to confirm the presence of nor- required for proper characterization of
tary uterus with functional endometrium mal ovaries, to characterize any mülleri- these disorders.
(17). Auditory, renal, and skeletal anom- an tissue, and to determine renal US is used to determine the location
alies occur in a substantial proportion of presence, position, and morphology. of the gonads and the presence of a
patients. Affected individuals have a nor- Distal vaginal atresia occurs when uterus and to assess the adrenal glands
mal female 46,XX karyotype with nor- the lower portion of the vagina fails to for diffuse enlargement or masses. A
mal ovarian hormonal and oocyte func- develop from the urogenital sinus and retrograde genitogram, obtained by in-
tion. At physical examination, patients fibrous tissue replaces the absent distal jecting contrast material through the
exhibit normal secondary sexual charac- vagina. The uterus, cervix, and upper urogenital orifice (Fig 10), and/or a
teristics and a normal perineum. The vagina are normal. Affected individuals voiding cystourethrogram will delineate
hymen is usually present, along with a usually present with primary amenor- the anatomy of the urethra, vagina (if
small distal vaginal pouch or vaginal rhea and may develop cyclical or chronic present), urogenital sinus, and occa-
dimple, since the hymen and distal va- pain and a pelvic or abdominal mass as sionally the cervix. In the setting of a
gina are both derived embryologically the upper vagina becomes distended cloacal anomaly, delineation of the con-
from the urogenital sinus. US is per- with blood and secretions. Patients nections of the urinary, genital, and
Figure 17 Figure 18 rhagic ovarian cysts reflect the age of
the blood: Fresh blood is hyperechoic
relative to the ovarian parenchyma,
older blood has a heterogeneous ap-
pearance, and a blood clot undergoing
lysis becomes anechoic.
In the prepubertal child, ovarian
cysts may be functional or nonfunctional.
Functional cysts develop as a result of
gonadotropin stimulation of the ovary,
with a decreased incidence in early
childhood after the neonatal period and
an increase as puberty is approached.
Figure 17: Polycystic ovarian syndrome in an
Some functional cysts will be hormonally
11-year-old girl with secondary amenorrhea.
active and cause gonadotropin-indepen-
Sagittal US image of the right ovary (volume, 20.5
mL) demonstrates multiple, small intraparenchy- dent (peripheral) precocious puberty,
mal follicles with a predominantly peripheral which manifests as premature breast de-
distribution. velopment or vaginal bleeding. Nonfunc-
tional ovarian cysts also occur in child-
hood and will appear as nonresolving
small follicles (Fig 17, Fig E5 [online]). cystic masses. Both types of cyst often
The Rotterdam US criteria define poly- appear as an asymptomatic abdominal
cystic ovaries as the presence of 12 or mass or increasing abdominal girth
more follicles measuring 2 to 9 mm in noted by a parent or physician. Other
diameter or an ovarian volume of more modes of presentation include chronic
than 10 mL in at least one ovary, as abdominal pain, intermittent pain from
measured at transvaginal US (35). torsion without complete compromise of
Since most adolescent girls will un- the vascular supply, or acute, severe
dergo transabdominal US and not Figure 18: Prenatal ovarian cyst complicated by pain that mimicks appendicitis or perito-
transvaginal US, a determination of torsion. (a) Prenatal US image shows a simple ovarian nitis from hemorrhage, torsion, or per-
the number of ovarian follicles is diffi- cyst (between cursors). A large mass was palpable at foration. Nonspecific symptoms, such as
cult, and volume measurements are birth. (b) Sagittal postnatal US image obtained at 10
nausea, vomiting, bloating, urinary
days of age shows a cystic structure filled with layer-
generally used as the main diagnostic frequency, or retention, may also occur.
ing debris extending out of the pelvis and into the
criterion. US is used to document cyst size and to
abdomen (arrow). Ovarian torsion was subsequently
determine if a lesion is a simple cyst, a
identified at surgery. RK 5 right kidney.
complex cyst, or a solid mass. Simple
Gynecologic Pelvic Masses cysts or cysts with debris suggestive of
Gynecologic masses in girls include ovar- tion by maternal and fetal gonadotro- hemorrhage are managed conserva-
ian cyst, hematocolpos, primary ovarian pins. Ovarian cysts are often displaced tively, with follow-up imaging examina-
neoplasm, metastatic ovarian disease, into the abdomen, where they may be tions performed after 4–8 weeks to doc-
primary vaginal and uterine neoplasms, palpable and are simple or complex at ument regression. If the cyst persists at
and pregnancy. US. Most are asymptomatic, and spon- follow-up but the US features are reas-
taneous regression occurs after birth. suring, continued observation is appro-
Ovarian Masses Regression usually occurs within 3–4 priate. When a prepubertal simple ovar-
Ovarian masses include nonneoplastic months but can take as long as a year ian cyst persists, increases in size to
cysts and benign and malignant tumors. (36). Serial US studies are performed more than 5 cm in diameter, or is symp-
Most tumors in the pediatric population to document regression. tomatic, then surgery should be consid-
are benign and of germ cell origin, un- The development of hemorrhage ered (39,40). Simple ovarian cysts and
like adults, where epithelial neoplasms within an ovarian cyst in utero or post- hemorrhagic corpus luteum cysts are
predominate. natally has a high association with long- common in postpubertal girls.
term ovarian loss, generally thought to
Ovarian Cyst be due to torsion (Fig 18), although Ovarian Tumors
Fetal ovarian cysts are occasionally de- there has been some speculation in the Ovarian tumors may arise from germ
tected at antenatal sonography. They literature that the underlying origin cells, stroma, or surface epithelium. Most
are usually unilateral, and most are may be related instead to ovarian dys- occur in the 2nd decade of life, with
thought to result from ovarian stimula- genesis (37,38). US features of hemor- teratoma being the most common type.
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